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Sample records for disease prenatal sonographic

  1. Prenatal sonographic diagnosis of ectopia cordis.

    PubMed

    Tongsong, T; Wanapirak, C; Sirivatanapa, P; Wongtrangan, S

    1999-10-01

    We present a small series of prenatally diagnosed cases of ectopia cordis. Four fetuses with prenatally diagnosed ectopia cordis were sonographically evaluated and followed up. The fetuses were diagnosed with ectopia cordis at 9, 13, 21, and 29 weeks' menstrual age. The case diagnosed at 9 weeks is the earliest prenatal diagnosis reported, to our knowledge. The diagnoses were based on the demonstration of a fetal heart outside the thoracic cavity with Doppler waveforms typical of intracardiac flow. One fetus had isolated ectopia cordis, and 3 had other associated anolmalies. The diagnosis was postnatally confirmed in all cases. Therapeutic abortion was done in 2 cases. One infant survived, and the fourth died shortly after birth. Chromosome study was successfully performed in 2 cases and was normal in both of them. This small series suggests that ectopia cordis can be readily diagnosed in utero as early as the first trimester. Later in pregnancy, sonography provides important information for planning surgical correction. Copyright 1999 John Wiley & Sons, Inc.

  2. Prenatal sonographic diagnosis of the 49,XXXXY syndrome.

    PubMed

    Schluth, Caroline; Doray, Bérénice; Girard-Lemaire, Françoise; Kohler, Monique; Langer, Bruno; Gasser, Bernard; Lindner, Véronique; Flori, Elisabeth

    2002-12-01

    The 49,XXXXY syndrome is a rare sex chromosome anomaly with an approximate incidence of 1 in 85,000 male live births. The diagnosis is usually ascertained postnatally by the association of mental retardation, variable growth deficiency, Down syndrome-like facial dysmorphy, hypogenitalism and other malformations, especially involving the heart and skeleton. Prenatal diagnosis of the pentasomy 49,XXXXY is generally fortuitous and sonographic features have rarely been described in the literature. We report here on two cases of 49,XXXXY syndrome diagnosed prenatally because of sonographic abnormalities. In the first, amniocentesis was performed at 26 weeks' gestation for polyhydramnios, unilateral clubfoot and micropenis. In the second, a karyotype was carried out on chorionic villi at 13 weeks' gestation for cystic hygroma. These observations and the six previously reported cases demonstrate that cystic hygroma in first or second trimester of pregnancy may be associated with sex chromosome aneuploidy other than Turner syndrome. Moreover, they emphasize the importance of detailed sonographic examination in the second trimester, as small penis and abnormal posturing of the lower extremities are very suggestive of the 49,XXXXY syndrome.

  3. Prenatal sonographic diagnosis of Aarskog syndrome.

    PubMed

    Sepulveda, W; Dezerega, V; Horvath, E; Aracena, M

    1999-10-01

    In 1970, Aarskog described a rare X-linked developmental disorder characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia (faciodigitogenital syndrome). The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak hair anomaly, and ocular and ear anomalies. Limb abnormalities consist of short broad hands, brachydactyly, interdigital webbing, hypoplasia of the middle phalanges, proximal interphalangeal joint laxity with concomitant flexion and restriction of movement of distal interphalangeal joints, and flat broad feet with bulbous toes. Genital anomalies are characteristics and include shawl scrotum, cryptorchidism, and inguinal hernia. Most affected patients have normal intelligence, but some authors have noted mild neurodevelopmental delay in up to 30% of the cases. We describe a case of Aarskog syndrome diagnosed prenatally by sonography at 28 weeks' gestation in a high-risk pregnancy for this disorder.

  4. Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis.

    PubMed

    Giancotti, Antonella; D'Ambrosio, Valentina; Marchionni, Enrica; Squarcella, Antonia; Aliberti, Camilla; La Torre, Renato; Manganaro, Lucia; Pizzuti, Antonio

    2017-09-01

    Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes. Given its wide range of clinical expression and severity, early prenatal diagnosis is difficult and genetic counseling is desirable. We report a literature review of all prenatal diagnosis of PS and a case report, with a focused description of ultrasound findings. After literature search, we selected 14 studies of antenatal diagnosis of PS. Prenatal ultrasound findings, outcome, maternal and obstetrical data and genetic tests were recorded and analyzed. A total of 18 cases including the one we present were selected. Among the most frequent sonographic features, skull shape anomalies were evident in 72.2% of cases, nasal abnormalities in 50%, proptosis and hypertelorism in 44.4% and frontal bossing in 22.2%. Thumbs' anomalies were present in 33.3% of cases and toes' abnormalities in 38.9%. In all cases, postnatal or postmortem examination confirmed the prenatal diagnosis of PS. We provide a literature review of prenatal diagnosis of PS to identify ultrasound features that may be supportive in the diagnosis of this rare disease, helping in making a differential diagnosis with the other possible craniosynostosis syndromes and in suggesting gene molecular testing.

  5. New sonographic aspects of peyronie disease.

    PubMed

    Prando, Décio

    2009-02-01

    The aim of this study was to evaluate the role of sonography in the identification of several types of lesions seen in patients with Peyronie disease (PD). A total of 78 patients were examined. Penile lesions were counted, classified, and categorized according to their anatomic location and sonographic presentation. The classic sonographic presentation, as well as less common and novel findings, are described and correlated with clinically relevant data and physical examination findings. Sonography can precisely assess the size and location of the plaques found in PD and can also aid in treatment.

  6. Prenatal sonographic diagnosis of skeletal dysplasias. A report of 47 cases.

    PubMed

    Doray, B; Favre, R; Viville, B; Langer, B; Dreyfus, M; Stoll, C

    2000-01-01

    The purpose of this study was to evaluate the foetal sonographic efficiency for prenatal diagnosis of osteochondrodysplasias. Forty-seven prenatal and postnatal cases diagnosed between January 1993 and December 1998 in the referral sonographic centres of Strasbourg were studied. All cases were reviewed retrospectively and the prenatal ultrasound findings and diagnosis were compared to the postnatal or post-mortem diagnosis. Each case was studied by ultrasonographers, geneticists, radiologists, and foetopathologists. Final diagnosis was based on clinical examination, skeletal survey and molecular testing as deemed necessary. Routine screening and dating was the indication for foetal sonography in 72% (32/47) of our cases. The most likely time of diagnosis was between 16 and 24 weeks of gestation (17 out of 47 cases, 36%), which corresponds to the time of foetal anomaly sonographic scan in France. The other cluster of cases (12 among 47, 26%) was disclosed before 16 weeks of gestation. These results illustrate the importance of a detailed evaluation of the limbs during sonographic examinations of first and second trimesters of pregnancy. While the identification of skeletal dysplasias was relatively easy in our study, the ability to make an accurate specific antenatal diagnosis was more difficult. An accurate diagnosis was proposed in 28 of the 47 cases (60%). In 19% of the cases (9/47), the prenatal diagnosis was not accurate; in 21% of the cases (10/47), the prenatal diagnosis was imprecise. In 45 of the 47 cases (96%) prenatal foetal scan correctly predicted the prognosis.

  7. Prenatal sonographic diagnosis of urorectal septum malformation sequence and chromosomal microarray analysis

    PubMed Central

    Pei, Yan; Wu, Qingqing; Liu, Yan; Sun, Lijuan; Zhi, Wenxue; Zhang, Puqing

    2016-01-01

    Abstract Introduction: Urorectal septum malformation sequence (URSMS) is a rare congenital abnormal syndrome that is caused by the incomplete division of the cloaca. Based on whether the cloaca membrane breaks down or not, the URSMS are classified as full and partial forms. The prenatal diagnosis of URSMS remains challenging because of poor recognition to this malformation and the relatively non-specific sonographic features. We report a prenatally sonographic diagnosed case of the partial URSMS, and review the literature to summarize the prenatal features. Case report and review: A 37-year old woman was referred at 24 weeks of gestation for fetal abdominal cyst. Detailed sonographic examination was done and revealed the vesicocolic fistula, distended colon, absence of perianal hypoechoic ring, pyelectasis, and small stomach bubble. The URSMS was suspected. Amniocentesis was done and karyotyping revealed 46,XY. Furthermore, chromosomal microarray analysis (CMA) was performed for the first time in URSMS and an alteration of 111.8Kb deletion was detected in 16p13.3 which was located inside the RBFOX1 gene. Parental studies showed that the deletion was inherited from the father who has nomal clinical phenotype. The woman elected to terminate the pregnancy at 25 weeks gestation and postmortem examination confirmed the diagnosis of partial URSMS. The published studies were reviewed and 28 cases of URSMS with conducted prenatal ultrasonography were collected in this report. The most common sonographic description, as suspicious signs of URSMS, were severe oligohydramnios or anhydramnios, urinary tract anomalies, fetal intra-abdominal cysts, and dilated bowel. Also, enterolithiasis and vesicocolic fistula were relatively infrequent but highly specific feature of URSMS. Conclusions: URSMS is difficult to be diagnosed prenatally. However, it has characteristic features that can be detected by fetal ultrasonography, and a precise prenatal sonographic examination is crucial

  8. Prenatal sonographic diagnosis of familial Holt-Oram syndrome associated with type B interrupted aortic arch.

    PubMed

    Law, K M; Tse, K T

    2008-08-01

    We present a rare case of familial Holt-Oram syndrome diagnosed sonographically at 18 weeks of gestation. The foetus had serious bilateral upper limb malformations, a ventricular septal defect and a type B interrupted aortic arch, while the mother had bilateral upper limb malformations only. The pregnancy was terminated. A pathological and radiological examination of the foetus confirmed the prenatal sonographic findings. Although genetic investigation of TBX5 mutations was not available in our locality at the time of diagnosis, the geneticists made a clinical diagnosis of familial Holt-Oram syndrome. The clinical features of our case completely fulfilled the strict diagnostic criteria for the syndrome. The cardiac malformations most commonly associated with Holt-Oram syndrome are atrial or ventricular septal defects. To the best of our knowledge, a prenatal diagnosis of Holt-Oram syndrome in association with a type B interrupted aortic arch has not been reported in the English literature before.

  9. A sonographic approach to prenatal classification of congenital spine anomalies

    PubMed Central

    Robertson, Meiri; Sia, Sock Bee

    2015-01-01

    Abstract Objective: To develop a classification system for congenital spine anomalies detected by prenatal ultrasound. Methods: Data were collected from fetuses with spine abnormalities diagnosed in our institution over a five‐year period between June 2005 and June 2010. The ultrasound images were analysed to determine which features were associated with different congenital spine anomalies. Findings of the prenatal ultrasound images were correlated with other prenatal imaging, post mortem findings, post mortem imaging, neonatal imaging, karyotype, and other genetic workup. Data from published case reports of prenatal diagnosis of rare congenital spine anomalies were analysed to provide a comprehensive work. Results: During the study period, eighteen cases of spine abnormalities were diagnosed in 7819 women. The mean gestational age at diagnosis was 18.8w ± 2.2 SD. While most cases represented open NTD, a spectrum of vertebral abnormalities were diagnosed prenatally. These included hemivertebrae, block vertebrae, cleft or butterfly vertebrae, sacral agenesis, and a lipomeningocele. The most sensitive features for diagnosis of a spine abnormality included flaring of the vertebral arch ossification centres, abnormal spine curvature, and short spine length. While reported findings at the time of diagnosis were often conservative, retrospective analysis revealed good correlation with radiographic imaging. 3D imaging was found to be a valuable tool in many settings. Conclusions: Analysis of the study findings showed prenatal ultrasound allowed detection of disruption to the normal appearances of the fetal spine. Using the three features of flaring of the vertebral arch ossification centres, abnormal spine curvature, and short spine length, an algorithm was devised to aid with the diagnosis of spine anomalies for those who perform and report prenatal ultrasound. PMID:28191204

  10. Fetal intracranial hemorrhage: sonographic criteria and merits of prenatal diagnosis.

    PubMed

    Abdelkader, Mohamed Ali; Ramadan, Wafaa; Gabr, Amir A; Kamel, Ahmed; Abdelrahman, Rasha W

    2017-09-01

    To determine the sonographic criteria for diagnosis of fetal intracranial hemorrhage (ICH), using both gray scale ultrasound, and tomographic ultrasound imaging (TUI). A prospective multicenter study, recruiting patients at risk of fetal ICH over four years. All cases with fetal ICH had serial ultrasound assessments, including TUI, fetal and postnatal MRIs. Twenty-one patients were diagnosed with fetal ICH, two cases had extracerebral (subdural) hemorrhage, 16 cases had intracerebral (intraventricular) hemorrhage and three cases had combined hemorrhage. The mean gestational age at which they were diagnosed was 29.8 ± 5.2 weeks. Seventy-six percent of cases had no identifiable risk factors. IUGR was associated with 57.9% of cases. Using grey scale ultrasound, we demonstrated clear cut sonographic criteria for diagnosis of fetal ICH. TUI enabled us to detect some midline cerebral lesions not detected by grey scale 2D ultrasound alone. Fetal and postnatal MRI confirmed those findings. Ultrasonography can be used in the detection, classification and monitoring the progression of various types of ICH. TUI is an additional diagnostic tool that might help to detect the exact size, and extent of those lesions. Fetal MRI is not superior, but might aid in the diagnosis.

  11. Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus.

    PubMed

    Huggins, M J; Mernagh, J R; Steele, L; Smith, J R; Nowaczyk, M J

    1999-11-26

    Hypochondroplasia (HCH) is caused by mutations in the fibroblast growth factor receptor type 3 (FGFR 3). Prenatal diagnosis of HCH based exclusively on the sonographic measurements of the fetal skeleton is difficult and has not been reported. We describe a newborn infant with HCH who was born to a mother with achondroplasia (ACH) and a father with HCH. Serial sonographic measurements were recorded from 16 weeks of gestation. All measurements remained normal up to 22 weeks of gestation. At 25 weeks of gestation, the long bones began to appear shorter than expected for gestational age, while the head measurements (biparietal diameter and head circumference) remained normal. The measurements were sufficiently different to distinguish from findings in normal and achondroplastic fetuses. Our findings suggest that it is possible to distinguish the normal fetus from a fetus affected with HCH and to distinguish HCH and ACH from each other based on the sonographic measurements alone. To our knowledge, this is the first report of longitudinal sonographic measurements of HCH in the second and third trimesters. Copyright 1999 Wiley-Liss, Inc.

  12. Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome.

    PubMed

    Wessels, Marja W; den Hollander, Nicolette S; Willems, Patrick J

    2003-03-01

    Primary ciliary dyskinesia (PCD), also referred to as immotile-cilia syndrome or Kartagener syndrome, is a group of genetic disorders caused by defective cilia leading to chronic sinupulmonary infection, situs inversus and reduced fertility. Some PCD patients also have cerebral ventriculomegaly or hydrocephalus. We report here two fetuses and one newborn with mild cerebral ventriculomegaly and a suspected and/or confirmed diagnosis of PCD. These cases demonstrate that mild fetal cerebral ventriculomegaly can be a prenatal sonographic marker of PCD, certainly in fetuses with situs inversus or a history of a previous sib with PCD.

  13. Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases.

    PubMed

    Yapar, E G; Ekici, E; Dogan, M; Gökmen, O

    1996-10-01

    Meckel-Gruber syndrome is an autosomal recessive disorder which comprises a characteristic triad of major abnormalities: renal cystic dysplasia, occipital encephalocele, and postaxial polydactyly. Because of the recessive inheritance, prenatal sonographic diagnosis is paramount for informed genetic counselling of affected pregnancies. However, Meckel-Gruber syndrome may demonstrate variation in phenotypic expression when some malformations are different from those traditionally accepted and cases may be evaluated as a different syndrome. The aim of this paper is to emphasise the phenotypic variability in Meckel-Gruber syndrome, and the importance of the prenatal sonography in the diagnosis. We also suggest that Dandy-Walker malformation or Dandy-Walker variant be accepted as one of the malformations which occur in the central nervous system as a part of the syndrome.

  14. Association of achondroplasia with Down syndrome: difficulty in prenatal diagnosis by sonographic and 3-D helical computed tomographic analyses.

    PubMed

    Kaga, Akimune; Murotsuki, Jun; Kamimura, Miki; Kimura, Masato; Saito-Hakoda, Akiko; Kanno, Junko; Hoshi, Kazuhiko; Kure, Shigeo; Fujiwara, Ikuma

    2015-05-01

    Achondroplasia and Down syndrome are relatively common conditions individually. But co-occurrence of both conditions in the same patient is rare and there have been no reports of fetal analysis of this condition by prenatal sonographic and three-dimensional (3-D) helical computed tomography (CT). Prenatal sonographic findings seen in persons with Down syndrome, such as a thickened nuchal fold, cardiac defects, and echogenic bowel were not found in the patient. A prenatal 3-D helical CT revealed a large head with frontal bossing, metaphyseal flaring of the long bones, and small iliac wings, which suggested achondroplasia. In a case with combination of achondroplasia and Down syndrome, it may be difficult to diagnose the co-occurrence prenatally without typical markers of Down syndrome.

  15. Cord blood unit bankability can be predicted by prenatal sonographic parameters.

    PubMed

    Cobellis, L; Castaldi, M A; Trabucco, E; Imparato, G; Perricone, F; Frega, V; Signoriello, G; Colacurci, N

    2013-10-01

    To identify possible sonographic prenatal parameters and postnatal parameters in order to obtain more bankable cord blood units (CBUs) containing a high number of primitive progenitor cells, allowing CBUs to be used as a source of haematopoietic progenitors for clinical transplantation. Prospective study undertaken in the Department of Gynaecology, Obstetrics and Reproductive Science, Second University of Naples, Italy. In total, 219 unrelated CBU donors were enrolled. Ultrasound parameters (biparietal diameter, head circumference, abdominal circumference, femur length, estimation of fetal weight, umbilical artery pulsatility index), collected at hospital admission, together with birth weight and placental weight, were correlated with bankable CBU parameters (CBU volume, total nucleated cell count, CD34+ cell count). Femur length and abdominal circumference correlated positively with bankable CBUs. Receiver operating curve analysis showed that these parameters can identify bankable CBUs. This is the first prospective study to show the relationship between ultrasonographic fetal parameters at term and the possibility of obtaining high-quality CBUs. As such, cord blood banking could be improved worldwide by performing low-cost ultrasonographic scans. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  16. Sonographic evaluation of pediatric localized scleroderma: preliminary disease assessment measures

    PubMed Central

    2010-01-01

    Background Our earlier work in the ultrasonograpy of localized scleroderma (LS) suggests that altered levels of echogenicity and vascularity can be associated with disease activity. Utrasound is clinically benign and readily available, but can be limited by operator dependence. We present our efforts to standardize image acquisition and interpretation of pediatric LS to better evaluate the correlation between specific sonographic findings and disease activity. Methods Several meetings have been held among our multi-center group (LOCUS) to work towards standardizing sonographic technique and image interpretation. Demonstration and experience in image acquisition were conducted at workshop meetings. Following meetings in 2007, an ultrasound measure was developed to standardize evaluation of differences in echogenicity and vascularity. Based upon our initial observations, we have labeled this an ultrasound disease activity measure. This preliminary measure was subsequently evaluated on over 180 scans of pediatric LS lesions. This review suggested that scoring levels should be expanded to better capture the range of observed differences. The revised levels and their definitions were formulated at a February 2009 workshop meeting. We have also developed assessments for scoring changes in tissue thickness and lesion size to better determine if these parameters aid evaluation of disease state. Results We have standardized our protocol for acquiring ultrasound images of pediatric LS lesions. A wide range of sonographic differences has been seen in the dermis, hypodermis, and deep tissue layers of active lesions. Preliminary ultrasound assessments have been generated. The disease activity measure scores for altered levels of echogenicity and vascularity in the lesion, and other assessments score for differences in lesion tissue layer thickness and changes in lesion size. Conclusions We describe the range of sonographic differences found in pediatric LS, and present our

  17. More than a gut feeling - sonographic prenatal diagnosis of imperforate anus in a high-risk population.

    PubMed

    Perlman, Sharon; Bilik, Ron; Leibovitch, Leah; Katorza, Eldad; Achiron, Reuven; Gilboa, Yinon

    2014-12-01

    The objective of this article is to investigate whether sonographic identification of the fetal anal mucosa (AM) can assist in the diagnosis of anal atresia (AA) in fetuses referred for congenital anomalies of kidney and urinary tract (CAKUT) malformation. During a 3-year study period, 245 fetuses referred for CAKUT were prospectively examined for the presence of the AM on an axial trans-perineal view. The prenatal findings were confirmed clinically. The AM was identified in all but two fetuses. The diagnosis of AA was confirmed clinically. In two additional cases, the babies were born with imperforated anus. In the first case, the AM was identified prenatally. The baby was born with a thin membrane covering the anal pit, which was easily penetrated revealing a patent anal canal. The second case was a false-negative, in which the echogenic ischial tuberosity was falsely mistaken for the AM. None of the cases earlier had bowel dilatation or enterolithiasis. Overall, the incidence of AA in our group was 30-fold relative to the general population (1.2% vs 0.04%). In a CAKUT population, absence of the AM in the posterior perineal triangle in the axial trans-perineal view emerges as an important sonographic marker for prenatal diagnosis of AA. © 2014 John Wiley & Sons, Ltd.

  18. First-trimester prenatal sonographic diagnosis of ectopia cordis in a twin gestation.

    PubMed

    Barbee, Kristen; Wax, Joseph R; Pinette, Michael G; Cartin, Angelina; Blackstone, Jacquelyn

    2009-01-01

    The 11-14-week ultrasound examination allows early pregnancy dating, detection of major anomalies and multiple gestations, and accurate chorionicity determination. We describe a rare case of first-trimester sonographic diagnosis of ectopia cordis in a dichorionic twin pregnancy, illustrating the benefits of early ultrasound in patient counseling and management. (c) 2009 Wiley Periodicals, Inc. J Clin Ultrasound, 2009.

  19. Prenatal sonographic diagnosis of fetal death and hydranencephaly in two Chihuahua fetuses.

    PubMed

    Cruz, Robert De J; Alvarado, Manuel S; Sandoval, Jorge E; Vilchez, Eloina

    2003-01-01

    Hydranencephaly and fetal death was diagnosed in two of three fetuses during the abdominal sonographic examination of a 2.5-year-old, intact female Chihuahua that had clinical signs of dystocia 63 days after mating. A cesarean section was performed and one live normal puppy was present. Two dead puppies, each with a markedly enlarged and fluid filled skull were removed.

  20. A prenatally sonographically diagnosed conotruncal anomaly with mosaic type trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome.

    PubMed

    Balci, S; Altugan, F S; Alehan, D; Aypar, E; Baltaci, V

    2009-01-01

    A prenatally sonographically diagnosed conotruncal anomaly with mosaic type trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome: We report a prenatally sonographically diagnosed conotruncal and urogenital anomaly. Postnatally, the patient presented with seizures, hypocalcemia, hypoparathyroidism and thymic aplasia and diagnosed as DiGeorge syndrome. Echocardiography showed malalignment VSD, supravalvular pulmonary stenosis and overriding aorta. Chromosome and FISH studies showed the association of mosaic type trisomy 21 and 22q11.2 microdeletion. The present patient is the second case of mosaic type of Down syndrome associated with 22q11.2 microdeletion. In addition the patient also had clinical and laboratory features of DiGeorge syndrome.

  1. Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.

    PubMed

    Erger, Florian; Brüchle, Nadina Ortiz; Gembruch, Ulrich; Zerres, Klaus

    2017-04-01

    To investigate the sonographic and clinical genotype-phenotype correlations in autosomal recessive polycystic kidney disease (ARPKD) and other cystic kidney diseases (CKD) in a large cohort of prenatally detected fetuses with hereditary CKD. We retrospectively studied the clinical and diagnostic data of 398 patients referred with prenatal ultrasound findings suggestive of CKD between 1994 and 2010. Cases with confirmed hereditary CKD (n = 130) were analyzed as to their prenatal ultrasound findings, genotype, and possible predictors of clinical outcome. ARPKD was most common in our non-representative sample. Truncating PKHD1 mutations led to a significantly reduced neonatal prognosis, with two such mutations being invariably lethal. Sonographically visible kidney cysts occurred in only 3% of ARPKD cases. Renal abnormalities in Meckel syndrome (MKS) appeared earlier than in ADPKD (19.6 ± 3.7 vs. 29.8 ± 5.1 GW) or ARPKD (19.6 ± 3.7 vs. 30.2 ± 1.2 GW). Additional CNS malformations were not found in ARPKD, but were highly sensitive for MKS. Pulmonary hypoplasia, oligo/anhydramnios (OAH), and kidney enlargement were associated with a significantly worse neonatal prognosis. Genotype, sonographic signs of OAH, enlarged kidney size, and pulmonary hypoplasia can be useful predictors of neonatal survival. We propose sonographic morphological criteria for ARPKD, ADPKD, MKS, and renal cyst and diabetes syndrome (RCAD). We further propose a clinical diagnostic algorithm for differentiating cystic kidney diseases.

  2. Metastatic neuroblastoma diagnosed on prenatal sonographic examination performed for decreased fetal movement.

    PubMed

    Chapa, Hector O; Geddie, Steven Gywnn; Flores, Rebecca

    2017-02-09

    We report a case of fetal neuroblastoma presenting with massive liver metastasis diagnosed during the biophysical profile sonographic examination performed for decreased fetal movement. The patient presented at 37 weeks' gestation with limited fetal movement over 24 hours. Biophysical profile showed marked polyhydramnios and an enlarged abdomen filled with a homogeneous mass lesion suspicious for liver metastasis. Primary urgent cesarean section was performed revealing a cachectic neonate with a rigid and grossly distended abdomen. Neonatal evaluation confirmed the etiology of the abdominal mass to be liver metastasis from neuroblastoma. The child died on the 46th day. © 2017 Wiley Periodicals, Inc. J Clin Ultrasound, 2017.

  3. Prenatal Diagnosis and Evaluation of Sonographic Predictors for Intervention and Adverse Outcome in Congenital Pulmonary Airway Malformation

    PubMed Central

    Hellmund, Astrid; Berg, Christoph; Geipel, Annegret; Bludau, Meike; Heydweiller, Andreas; Bachour, Haitham; Müller, Andreas; Müller, Annette; Gembruch, Ulrich

    2016-01-01

    Objective To describe antenatal findings and evaluate prenatal risk parameters for adverse outcome or need for intervention in fetuses with congenital pulmonary airway malformation (CPAM). Methods In our retrospective study all fetuses with a prenatal diagnosis of CPAM detected in our tertiary referral center between 2002 and 2013 were analyzed. Sonographic findings were noted and measurements of mass-to-thorax-ratio (MTR), congenital pulmonary airway malformation volume-ratio (CVR) and observed to expected lung-to head-ratio (o/e LHR) were conducted and correlated to fetal or neonatal morbidity and mortality and/or need for prenatal intervention. Results 67 fetuses with CPAM were included in the study. Hydropic fetuses were observed in 16.4% (11/67) of cases, prenatal intervention was undertaken in 9 cases; 7 pregnancies were terminated. The survival rate of non-hydropic fetuses with conservatively managed CPAM was 98.0% (50/51), the survival rate for hydropic fetuses with intention to treat was 42.9% (3/7). 10 (18.2%) children needed respiratory assistance. Fetuses with a CVR of <0.91 were significantly less likely to experience adverse outcome or need for prenatal intervention with sensitivity, specificity and positive/negative predictive value of 0.89, 0.71, 0.62 and 0.93, respectively. A MTR (mass-to-thorax-ratio) of < 0.51 had a positive predictive value of 0.54 and a negative predictive value of 0.96 of adverse events with a sensitivity of 0.95 and a specificity of 0.63. The negative predictive value for o/e LHR of 45% was 0.84 with sensitivity, specificity and positive predictive value of 0.73, 0.68 and 0.52, respectively. Conclusions The majority of cases with CPAM have a favorable outcome. MTR and CVR are able to identify fetuses at risk, the o/e LHR is less sensitive. PMID:26978067

  4. Prenatal Sonographic Abnormal Appearances of the Fetal Hyaloid Artery: From Normal Variants to Pathology.

    PubMed

    Bronshtein, Moshe; Gabbay-Benziv, Rinat; Gover, Ayala; Gilboa, Yinon; Bardin, Ron

    2017-09-01

    This is a case series on the abnormal sonographic appearance and outcome of the fetal hyaloid artery (HA) detected during between 1987 and 2015 at one medical center. Fifteen cases were detected during fetal anatomy scans, usually performed at 14 to 16 weeks' gestation. Three other cases were diagnosed following referral for a second opinion. In nine fetuses, the HA regressed normally throughout pregnancy. Of them, eight neonates had normal outcomes and one had cataract at the same eye. All nine other cases ended with adverse outcomes. Failure of the HA to regress in the third trimester appears to be an indicator of congenital blindness. © 2017 by the American Institute of Ultrasound in Medicine.

  5. Pediatric prenatal diagnosis of congenital heart disease.

    PubMed

    Killen, Stacy A S; Mouledoux, Jessica H; Kavanaugh-McHugh, Ann

    2014-10-01

    Fetal cardiology is a rapidly evolving field. Imaging technology continues to advance as do approaches to in-utero interventions and care of the critically ill neonate, with even greater demand for improvement in prenatal diagnosis of congenital heart disease (CHD) and arrhythmias. Reviewing the advances in prenatal diagnosis of CHD in such a rapidly developing field is a broad topic. Therefore, we have chosen to focus this review of recent literature on challenges in prenatal detection of CHD, challenges in prenatal counseling, advances in fetal arrhythmia diagnosis, and potential benefits to patients with CHD who are identified prenatally. As methods and tools to diagnose and manage CHD and arrhythmias in utero continue to improve, future generations will hopefully see a reduction in both prenatal and neonatal morbidity and mortality. Prenatal diagnosis can and should be used to optimize location and timing of delivery and postnatal interventions.

  6. Risk Score Model for Predicting Sonographic Non-alcoholic Fatty Liver Disease in Children and Adolescents

    PubMed Central

    Hosseini, Sayed-Mohsen; Mousavi, Saeid; Poursafa, Parinaz; Kelishadi, Roya

    2011-01-01

    Objective This study aimed to develop and test the validity of a risk score to be used as a simple tool to identify those children at high risk of sonographic non-alcoholic fatty liver disease (NAFLD). Methods This cross-sectional study was conducted among 962 participants aged 6–18 years in Isfahan, Iran. They consisted of three groups of nearly equal number of normal-weight, overweight and obese individuals. Coefficients of the logistic regression models were used to assign a score value for each variable and the composite sonographic NAFLD risk score was calculated as the sum of those scores. Performance of model was assessed by receiver operating characteristic (ROC) curve procedure. Findings Data of 931 participants was included in the analysis. The sonographic findings of 16.8% of participants were compatible with NAFLD. Age, sex, body mass index, waist circumference and serum triglycerides level were diagnosed as factors associated with NAFLD. The risk score was calculated as 50 for sonographic NAFLD. Conclusion This study, to the best of our knowledge is the first of its kind in the pediatric age group, focuses on predicting sonographic NAFLD from easily-measured factors. It may suggest an association of hypertriglyceridemic-waist phenotype with NAFLD in the pediatric age group. PMID:23056785

  7. Prenatal sonographic diagnosis of short umbilical cord in a dichorionic twin with normal fetal anatomy.

    PubMed

    Sherer, David M; Dalloul, Mudar; Ajayi, Olusegun; Kheyman, Mila; Sokolovski, Margarita; Abulafia, Ovadia

    2010-02-01

    Short umbilical cords are associated with fetal anomalies, often including those with decreased or absent fetal movement, fetal akinesia/hypokinesia sequence, and restrictive dermopathies and aneuploidy. In normal fetuses, abnormally short umbilical cords have been associated with an increased risk of umbilical vessel hematomas, thrombosis, rupture, thrombocytopenia, cord compression, variable fetal heart rate decelerations, instrumental and operative deliveries, and fetal demise. We report a 24-year-old gravida 2, para 0 with a concordant dichorionic twin gestation, at 26 weeks' gestation, in whom sonography depicted fetuses with normal-appearing anatomy as well as short umbilical cord of the 1st twin. Increased fetal surveillance was conducted. Following delivery at 36 weeks' gestation, the presence of a short umbilical cord of the 1st twin measuring 19 cm was confirmed. Systematic review of the literature confirms that this is the first report of prenatal diagnosis of a short umbilical cord in an otherwise normal fetus.

  8. Sonographic Findings of Common Musculoskeletal Diseases in Patients with Diabetes Mellitus

    PubMed Central

    Park, Minho; Ahn, Sung Eun; Ryu, Kyung Nam; Park, So Young; Jin, Wook

    2016-01-01

    Diabetes mellitus (DM) can accompany many musculoskeletal (MSK) diseases. It is difficult to distinguish the DM-related MSK diseases based on clinical symptoms alone. Sonography is frequently used as a first imaging study for these MSK symptoms and is helpful to differentiate the various DM-related MSK diseases. This pictorial essay focuses on sonographic findings of various MSK diseases that can occur in diabetic patients. PMID:26957910

  9. Candidate diseases for prenatal gene therapy.

    PubMed

    David, Anna L; Waddington, Simon N

    2012-01-01

    Prenatal gene therapy aims to deliver genes to cells and tissues early in prenatal life, allowing correction of a genetic defect, before irreparable tissue damage has occurred. In contrast to postnatal gene therapy, prenatal application may target genes to a large population of stem cells, and the smaller fetal size allows a higher vector to target cell ratio to be achieved. Early gestation delivery may allow the development of immune tolerance to the transgenic protein, which would facilitate postnatal repeat vector administration if needed. Moreover, early delivery would avoid anti-vector immune responses which are often acquired in postnatal life. The NIH Recombinant DNA Advisory Committee considered that a candidate disease for prenatal gene therapy should pose serious morbidity and mortality risks to the fetus or neonate, and not have any effective postnatal treatment. Prenatal gene therapy would therefore be appropriate for life-threatening disorders, in which prenatal gene delivery maintains a clear advantage over cell transplantation or postnatal gene therapy. If deemed safer and more efficacious, prenatal gene therapy may be applicable for nonlethal conditions if adult gene transfer is unlikely to be of benefit. Many candidate diseases will be inherited congenital disorders such as thalassaemia or lysosomal storage disorders. However, obstetric conditions such as fetal growth restriction may also be treated using a targeted gene therapy approach. In each disease, the condition must be diagnosed prenatally, either via antenatal screening and prenatal diagnosis, for example, in the case of hemophilias, or by ultrasound assessment of the fetus, for example, congenital diaphragmatic hernia. In this chapter, we describe some examples of the candidate diseases and discuss how a prenatal gene therapy approach might work.

  10. Sonographic cervical motion tenderness: A sign found in a patient with pelvic inflammatory disease

    PubMed Central

    2012-01-01

    No single historical, physical, laboratory, or imaging finding is both sensitive and specific for the diagnosis of pelvic inflammatory disease (PID). Cervical motion tenderness (CMT), when present, is classically found on bimanual examination of the cervix and uterus. CMT is often associated with PID but can be present in other disease entities. We present a case report of a patient who was ultimately diagnosed with acute PID. The evaluating physician performed a trans-vaginal bedside ultrasound, and the operator appreciated ‘sonographic CMT’. In cases where the physical examination is equivocal or in patients where the exact location of tenderness is difficult to discern, performing a trans-vaginal bedside ultrasound examination can increase the physician's confidence that CMT is present as the cervix is being directly visualized as pressure is applied with the probe. Bedside ultrasound and specifically sonographic CMT may prove useful in diagnosing PID in patients with equivocal or unclear physical examination findings. PMID:22989255

  11. Prenatal sonography in hydranencephaly: findings during the early stages of disease.

    PubMed

    Sepulveda, Waldo; Cortes-Yepes, Hernan; Wong, Amy E; Dezerega, Victor; Corral, Edgardo; Malinger, Gustavo

    2012-05-01

    The purpose of this report is to describe the prenatal sonographic findings in fetuses with hydranencephaly diagnosed during the early stages of disease. Four cases with characteristics of hydranencephaly were retrospectively identified from 2 Latin American fetal medicine referral centers. Information on maternal demographics, sonographic findings, antenatal courses, and pregnancy outcomes was retrieved from the ultrasound reports and medical records. Cases were diagnosed between 21 and 23 weeks' gestation. The sonographic findings were similar in all cases and included absent cerebral hemispheres, which were replaced by homogeneous echogenic material filling the supratentorial space, and preservation of the thalami, brain stem, and cerebellum. The head circumference measurement was within the normal range, but the transverse cerebellar diameter was below the fifth percentile in 3 of the 4 cases. A follow-up scan in 1 of these cases demonstrated the classic anechoic fluid-filled appearance of hydranencephaly 2 weeks after diagnosis. Confirmation of the diagnosis was available in 2 cases, by postmortem examination in 1 and by fetal magnetic resonance imaging in the other. No further investigations were performed in the 2 women who opted for termination of pregnancy. In conclusion, during the early stages of disease, hydranencephaly is characterized by the presence of a large intracranial saclike structure containing homogeneous echogenic material, representing blood and necrotic debris secondary to massive liquefaction of the developing cerebral hemispheres.

  12. Prenatal diagnosis of biliary atresia: A case series.

    PubMed

    Shen, O; Sela, H Y; Nagar, H; Rabinowitz, R; Jacobovich, E; Chen, D; Granot, E

    2017-08-01

    Biliary atresia is a progressive disease presenting with jaundice, and is the most common indication for liver transplantation in the pediatric population. Prenatal series have yielded conflicting results concerning a possible association between BA and prenatal nonvisualization of the gallbladder. This retrospective case series was performed to assess the association between biliary atresia, prenatal nonvisualization of the gallbladder and other sonographic signs. We identified biliary atresia patients who underwent a Kasai procedure by a single pediatric surgeon and/or follow up by a single pediatric gastroenterologist. Axial plane images and/or video recordings were scrutinized for sonographic signs of biliary atresia on the second trimester anomaly scan. Proportion of biliary atresia cases with prenatal sonographic signs. Twenty five charts of children with biliary and high quality prenatal images were retrieved. 6/25 (24%) of cases analyzed had prenatal nonvisualization of the gallbladder or a small gallbladder on the prenatal scan. Two cases had biliary atresia splenic malformation syndrome. None of the cases had additional sonographic markers of biliary atresia. Our study suggests that in addition to the well-established embryonic and cystic forms, an additional type can be suspected prenatally, which is characterized by prenatal nonvisualization of the gallbladder in the second trimester. This provides additional evidence that some cases of BA are of fetal rather than perinatal onset and may have important implications for prenatal diagnosis, for counseling and for research of the disease's etiology and pathophysiology. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. Moving towards universal prenatal detection of critical congenital heart disease in southern Nevada: a community-wide program.

    PubMed

    Evans, William; Castillo, William; Rollins, Robert; Luna, Carlos; Kip, Katrinka; Ludwick, Joseph; Madan, Nitin; Ciccolo, Michael; Galindo, Alvaro; Rothman, Abraham; Mayman, Gary; Cass, Kathleen; Thomas, Vincent; Restrepo, Humberto; Acherman, Ruben

    2015-02-01

    This study compares the current, prenatal detection rate for critical congenital heart disease in Southern Nevada with the previously reported rate, after developing and expanding a comprehensive, community-wide fetal cardiology program. For the current-period analysis, we inquired our database and electronic health records for patients born in Clark County, Nevada, with critical congenital heart disease between May 2012 and April 2014, and we compared the results with the previous period between May 2003 and April 2006. The major components of the community-wide program include fetal congenital heart disease screening via general obstetric ultrasound studies performed in obstetrician's offices, radiology imaging centers, or maternal-fetal medicine specialty practices; subsequent referral for comprehensive fetal echocardiography performed in maternal-fetal medicine offices under the on-site supervision by fetal cardiologists; and recurring community educational programs teaching the 5-axial plane, fetal echocardiographic screening protocol to general obstetric sonographers and instructing perinatal sonographers in advanced imaging topics. For the current period, the prenatal detection rate for critical congenital heart disease in Southern Nevada was 71 versus 36% for the previous period (p < 0.001). The temporal improvement in prenatal detection of critical congenital heart disease may be related to our expanded decentralized, community-wide fetal cardiology program, and our experiences may be applicable to other metropolitan areas.

  14. Tomorrow's prenatal genetic testing. Should we test for 'minor' diseases?

    PubMed

    Strong, C

    1993-11-01

    New genetic knowledge will make it possible to test prenatally for a wide range of fetal genetic characteristics. One consequence will be an expansion of potential reasons for selective abortion following prenatal testing. It will likely become possible for patients to request prenatal testing and abortion not only for serious diseases but also relatively mild diseases, late-onset diseases, treatable diseases, elevated risks for common diseases, and eventually nondisease characteristics, such as height and body build. Two main ethical views concerning prenatal testing have been advocated: (1) Prenatal testing should be restricted to the "most severe" disorders, involving profound retardation, severe physical handicaps, or prolonged physical suffering and (2) Patients' requests for prenatal tests should be honored except for diseases considered to be "too minor." At least two additional views can be identified: (3) Physicians should honor requests for prenatal testing for diseases, including relatively minor ones, but not requests pertaining to nondisease characteristics and (4) All requests for prenatal tests should be honored. A difficulty with the first and second views is that they deviate from the norm of nondirectiveness in prenatal testing and counseling. The problems with the fourth view are that it leads to abortions for morally trivial reasons and that attempts to design our children could adversely affect parent-child relationships and exacerbate current social inequities. These considerations support the third view, which holds that the future role of reproductive genetic testing and counseling should be based on the imperfect, but helpful, distinction between disease and nondisease.

  15. Prenatal immunotoxicant exposure and postnatal autoimmune disease.

    PubMed Central

    Holladay, S D

    1999-01-01

    Reports in humans and rodents indicate that immune development may be altered following perinatal exposure to immunotoxic compounds, including chemotherapeutics, corticosteroids, polycyclic hydrocarbons, and polyhalogenated hydrocarbons. Effects from such exposure may be more dramatic or persistent than following exposure during adult life. For example, prenatal exposure to the insecticide chlordane or to the polycyclic aromatic hydrocarbon benzo[(italic)a(/italic)]pyrene produces what appears to be lifelong immunosuppression in mice. Whether prenatal immunotoxicant exposure may predispose the organism to postnatal autoimmune disease remains largely unknown. In this regard, the therapeutic immunosuppressant cyclosporin A (CsA) crosses the placenta poorly. However, lethally irradiated rodents exposed to CsA postsyngeneic bone marrow transplant (i.e., during re-establishment of the immune system) develop T-cell-mediated autoimmune disease, suggesting this drug may produce a fundamental disruption in development of self-tolerance by T cells. The environmental contaminant 2,3,7, 8-tetrachlorodibenzo-(italic)p(/italic)-dioxin (TCDD) crosses the placenta and produces fetal thymic effects (italic)in vivo(/italic) similar to effects of CsA in fetal thymic organ culture, including inhibited thymocyte maturation and reduced expression of thymic major histocompatability complex class II molecules. These observations led to the suggestion that gestational exposure to TCDD may interfere with normal development of self-tolerance. Possibly supporting this hypothesis, when mice predisposed to development of autoimmune disease were treated with TCDD during gestation, postnatal autoimmunity was exacerbated. Similar results have been reported for mice exposed to diethylstilbestrol during development. These reports suggest that prenatal exposure to certain immunotoxicants may play a role in postnatal expression of autoimmunity. PMID:10502532

  16. Sonographic Findings in Gouty Arthritis: Diagnostic Value and Association with Disease Duration.

    PubMed

    Elsaman, Ahmed M; Muhammad, Eman M S; Pessler, Frank

    2016-06-01

    The objective of this work was to evaluate the sonographic features of gouty arthritis and correlate findings with disease duration. The study was conducted on 100 patients in ambulatory care aged ≥40 y. Inclusion criteria included mono- or oligo-arthritis with effusion of the knee or the first metatarsophalangeal (MTP) joint and no known history of gout. A complete medical history was obtained with emphasis on the known risk factors or causes of gouty arthritis. A 12-MHz Medison linear probe was used for ultrasonography (US). Synovial fluid analysis with polarizing light microscopy was performed on all patients. Ninety-eight knee joints and 33 first MTP joints were examined. Gouty arthritis was found by US in four forms: (i) floating echogenic foci in effusion fluid or Baker cysts, (ii) deposits on the cartilage surface (double contour sign), (iii) erosions and (iv) mature tophus/tophi. These were found in 78.9%, 42.3%, 39.4% and 28.2% of patients, respectively. The overall sensitivity and specificity of US in detecting gout (as defined by the clinical gold standard, i.e., detection of urate crystals by polarizing light microscopy) were 85.9% and 86.7%, respectively. Detection of echogenic foci in effusion fluid was associated with the shortest duration of symptoms (median duration 2 y) followed by double contour sign (3.5 y), erosions (4 y) and tophus (12.5 y). Sonographic findings in gout can be assigned a temporal pattern, with echogenic foci being associated with the shortest and full tophus formation with the longest disease duration.

  17. [Complex Congenital Heart Disease: The Influence of Prenatal Diagnosis].

    PubMed

    Correia, Marta; Fortunato, Fabiana; Martins, Duarte; Teixeira, Ana; Nogueira, Graça; Menezes, Isabel; Anjos, Rui

    2015-01-01

    Complex congenital heart disease is a group of severe conditions. Prenatal diagnosis has implications on morbidity and mortality for most severe conditions. The purpose of this work was to evaluate the influence of prenatal diagnosis and distance of residence and birth place to a reference center, on immediate morbidity and early mortality of complex congenital heart disease. Retrospective study of complex congenital heart disease patients of our Hospital, born between 2007 and 2012. There were 126 patients born with complex congenital heart disease. In 95%, pregnancy was followed since the first trimester, with prenatal diagnosis in 42%. There was a statistically significant relation between birth place and prenatal diagnosis. Transposition of great arteries was the most frequent complex congenital heart disease (45.2%), followed by pulmonary atresia with ventricular septal defect (17.5%) and hypoplastic left ventricle (9.5%). Eighty-two patients (65.1%) had prostaglandin infusion and 38 (30.2%)were ventilated before an intervention. Surgery took place in the neonatal period in 73%. Actuarial survival rate at 30 days, 12 and 24 months was 85%, 80% and 75%, respectively. There was no statistically significant relation between prenatal diagnosis and mortality. Most patients with complex congenital heart disease did not have prenatal diagnosis. All cases with prenatal diagnosis were born in a tertiary center. Prenatal diagnosis did not influence significantly neonatal mortality, as already described in other studies with heterogeneous complex heart disease. prenatal diagnosis of complex congenital heart disease allowed an adequate referral. Most patients with complex congenital heart disease werenâÄôt diagnosed prenatally. This data should be considered when planning prenatal diagnosis of congenital heart disease.

  18. Huntington's disease: prenatal screening for late onset disease.

    PubMed Central

    Post, S G

    1992-01-01

    This article presents a set of moral arguments regarding the selective abortion of fetuses on the basis of prenatal screening for late onset genetic diseases only, and for Huntington's Disease* in particular. After discussion of human suffering, human perfection and the distinctive features of the lives of people confronting late onset genetic disease, the author concludes that selective abortion is difficult to justify ethically, although it must remain a matter of personal choice. PMID:1535662

  19. Huntington's disease: prenatal screening for late onset disease.

    PubMed

    Post, S G

    1992-06-01

    This article presents a set of moral arguments regarding the selective abortion of fetuses on the basis of prenatal screening for late onset genetic diseases only, and for Huntington's Disease* in particular. After discussion of human suffering, human perfection and the distinctive features of the lives of people confronting late onset genetic disease, the author concludes that selective abortion is difficult to justify ethically, although it must remain a matter of personal choice.

  20. Sonographic findings of localized Castleman disease of the abdomen and pelvis.

    PubMed

    Zhou, Wei; Zhan, Weiwei; Zhou, Jianqiao; Zhu, Ying; Yao, Jiejie

    2015-09-01

    The purpose of this study was to sonographically evaluate the diagnosis of localized Castleman disease in the abdomen and pelvis. This was a retrospective analysis of 18 cases of Castleman disease localized in the abdomen and pelvis. The following features of the lesions were assessed on sonography (US): location, size, margin, echogenicity, echotexture, intralesional cystic necrosis, intralesional calcification, posterior acoustic enhancement, and blood supply. Of the 18 tumors, 16 were located in the abdomen and 2 were located in the pelvis close to iliac vessels. The most frequent appearance of localized Castleman disease in the abdomen and pelvis on US was of a single, well-defined, hypoechoic solid mass with no intralesional cystic necrosis. The internal echotexture was homogeneous in 4 cases and heterogeneous in 14 cases, with thin hyperechoic septa (n = 14) or calcifications (n = 3). Posterior acoustic enhancement was seen in 17 of the 18 cases (94%). Ninety-four percent of the lesions (17/18) had marked vascularity on color Doppler US. Localized Castleman disease in the abdomen and pelvis usually appears on US as a heterogeneously hypoechoic lesion containing thin septa, and more commonly than not, demonstrates posterior acoustic enhancement and marked vascularity. © 2014 Wiley Periodicals, Inc.

  1. Prenatal Diagnosis of Congenital Heart Disease and Birth Outcomes

    PubMed Central

    Levey, Allison; Levasseur, Stephanie M.; Glickstein, Julie S.; Kleinman, Charles S.; Simpson, Lynn L.; Williams, Ismee A.

    2013-01-01

    This study was undertaken to examine the impact that prenatal diagnosis of congenital heart disease (CHD) has on birth and early neonatal outcomes. The prevalence of prenatally diagnosed CHD has risen over the past decade, but the effect that prenatal diagnosis of CHD has on peripartum decisions remains unclear. No consensus exists on the effect of prenatal diagnosis on neonatal outcomes. Between January 2004 and July 2009, a retrospective chart review of all neonates with CHD admitted to our institution’s neonatal intensive care unit was conducted. Obstetric and postnatal variables were collected. Among the 993 subjects, 678 (68.3 %) had a prenatal diagnosis. A prenatal diagnosis increased the odds of a scheduled delivery [odds ratio (OR) 4.1, 95 % confidence interval (CI) 3.0–5.6] and induction of labor (OR 11.5, 95 % CI 6.6–20.1). Prenatal diagnosis was not significantly associated with cesarean delivery when control was used for maternal age, multiple gestation, and presence of extracardiac anomaly. Mean gestational age had no impact on prenatal diagnosis, but prenatal diagnosis was associated with increased odds of delivery before a gestational age of 39 weeks (OR 1.5, 95 % CI 1.1–1.9) and decreased odds of preoperative intubation (OR 0.5, 95 % CI 0.3–0.6). Prenatal diagnosis did not have an impact on preoperative or predischarge mortality. Prenatal diagnosis was associated with increased odds of a scheduled delivery, birth before a gestational age of 39 weeks, and a decreased need for invasive respiratory support. Prenatal diagnosis of CHD was not associated with preoperative or predischarge mortality. PMID:23052660

  2. A national perspective on prenatal testing for mitochondrial disease.

    PubMed

    Nesbitt, Victoria; Alston, Charlotte L; Blakely, Emma L; Fratter, Carl; Feeney, Catherine L; Poulton, Joanna; Brown, Garry K; Turnbull, Doug M; Taylor, Robert W; McFarland, Robert

    2014-11-01

    Mitochondrial diseases affect >1 in 7500 live births and may be due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). Genetic counselling for families with mitochondrial diseases, especially those due to mtDNA mutations, provides unique and difficult challenges particularly in relation to disease transmission and prevention. We have experienced an increasing demand for prenatal diagnostic testing from families affected by mitochondrial disease since we first offered this service in 2007. We review the diagnostic records of the 62 prenatal samples (17 mtDNA and 45 nDNA) analysed since 2007, the reasons for testing, mutation investigated and the clinical outcome. Our findings indicate that prenatal testing for mitochondrial disease is reliable and informative for the nuclear and selected mtDNA mutations we have tested. Where available, the results of mtDNA heteroplasmy analyses from other family members are helpful in interpreting the prenatal mtDNA test result. This is particularly important when the mutation is rare or the mtDNA heteroplasmy is observed at intermediate levels. At least 11 cases of mitochondrial disease were prevented following prenatal testing, 3 of which were mtDNA disease. On the basis of our results, we believe that prenatal testing for mitochondrial disease is an important option for couples where appropriate genetic analyses and pre/post-test counselling can be provided.

  3. Bowel Obstruction: Sonographic Evaluation.

    PubMed

    Hollerweger, A; Wüstner, M; Dirks, K

    2015-06-01

    Learning objectives: Sonographic examination concept in the case of suspicion of bowel obstruction. Recognition of the sonographic criteria of a bowel obstruction. Ability to detect the level of a bowel obstruction. Sonographic detection of typical causes of bowel obstruction. Detection of sonographic signs of complicated bowel obstruction. Ability to sonographically define important differential diagnoses. Further diagnostic procedures in unclear situations.

  4. Pregnancy related breast diseases in a developing African country: Initial Sonographic Evaluation

    PubMed Central

    Adeniji-Sofoluwe, Adenike Temitayo; Obajimi, Gbolahan Oladele; Obajimi, Millicent Olubunmi

    2015-01-01

    Benign diseases are more common than malignant diseases in pregnant and lactating women. Fibroadenomas are the most commonly identified benign breast tumour in pregnant and lactating women. Pregnancy related breast cancer is defined as breast cancer that occurs during pregnancy or within 1 year of delivery. Its incidence is estimated at 1 in 3000 to 1 in 10 000 pregnancies. Several reproductive factors like age at menarche, age at menopause, age at full-term pregnancy, parity, age at any birth and spacing of pregnancies, breast feeding, characteristics of the menstrual cycle, infertility, spontaneous and induced abortions, characteristics of the menstrual cycle and infertility are some of the factors that have been incriminated as risk factors for breast cancer. We sought to describe the predominant breast pattern, sonographic array of pregnancy related breast diseases in women referred to the breast imaging unit in the department of Radiology at the University College Hospital, Ibadan south west Nigeria. Socio-demographic characteristics in these women were also evaluated. Archived images were reviewed and documented and data was analysed with SPSS version 17 and presented with descriptives. In this descriptive study, we retrospectively retrieved the sonomammographic records of 21 women (pregnant or lactating) referred to and imaged in the department of radiology, University college hospital Ibadan, between 2006 and 2013. Diagnostic breast sonograms performed by MO and ATS; Consultant radiologists with 7-10 years’ experience utilized a 7-10 MHz transducer of the General electric GE Logiq P5 machine for the scans. Twenty-one women with ages between 22-42 years (Mean 31.4 ±5.4 SD) pregnant or lactating were referred to the radiology department for sonomammographic evaluation. Majority of the women were in the 3rd decade. Referral was mainly (11) by family Physicians from the general outpatient clinic, 5 were self-referred, 2 from radiotherapy department, 2 from

  5. Pregnancy related breast diseases in a developing African country: Initial Sonographic Evaluation.

    PubMed

    Adeniji-Sofoluwe, Adenike Temitayo; Obajimi, Gbolahan Oladele; Obajimi, Millicent Olubunmi

    2015-01-01

    Benign diseases are more common than malignant diseases in pregnant and lactating women. Fibroadenomas are the most commonly identified benign breast tumour in pregnant and lactating women. Pregnancy related breast cancer is defined as breast cancer that occurs during pregnancy or within 1 year of delivery. Its incidence is estimated at 1 in 3000 to 1 in 10 000 pregnancies. Several reproductive factors like age at menarche, age at menopause, age at full-term pregnancy, parity, age at any birth and spacing of pregnancies, breast feeding, characteristics of the menstrual cycle, infertility, spontaneous and induced abortions, characteristics of the menstrual cycle and infertility are some of the factors that have been incriminated as risk factors for breast cancer. We sought to describe the predominant breast pattern, sonographic array of pregnancy related breast diseases in women referred to the breast imaging unit in the department of Radiology at the University College Hospital, Ibadan south west Nigeria. Socio-demographic characteristics in these women were also evaluated. Archived images were reviewed and documented and data was analysed with SPSS version 17 and presented with descriptives. In this descriptive study, we retrospectively retrieved the sonomammographic records of 21 women (pregnant or lactating) referred to and imaged in the department of radiology, University college hospital Ibadan, between 2006 and 2013. Diagnostic breast sonograms performed by MO and ATS; Consultant radiologists with 7-10 years' experience utilized a 7-10 MHz transducer of the General electric GE Logiq P5 machine for the scans. Twenty-one women with ages between 22-42 years (Mean 31.4 ± 5.4 SD) pregnant or lactating were referred to the radiology department for sonomammographic evaluation. Majority of the women were in the 3rd decade. Referral was mainly (11) by family Physicians from the general outpatient clinic, 5 were self-referred, 2 from radiotherapy department, 2 from

  6. Variation in Prenatal Diagnosis of Congenital Heart Disease in Infants

    PubMed Central

    Quartermain, Michael D.; Pasquali, Sara K.; Hill, Kevin D.; Goldberg, David J.; Huhta, James C.; Jacobs, Jeffrey P.; Jacobs, Marshall L.; Kim, Sunghee; Ungerleider, Ross M.

    2016-01-01

    Background Prenatal diagnosis allows for improved peri-operative outcomes of fetuses with certain forms of congenital heart disease (CHD). Variability in prenatal diagnosis has been demonstrated in other countries, leading to efforts to improve fetal imaging protocols and access to care, but has not been examined across the United States. Objective To evaluate national variation in prenatal detection across geographic region and defect type in neonates and infants with CHD undergoing heart surgery. Methods Cardiovascular operations performed in patients ≤ 6 months of age within the United States and included in the STS-CHS Surgical Database (2006–2012) were eligible for inclusion. Centers with >15% missing prenatal diagnosis data were excluded from the study. Prenatal diagnosis rates were compared across geographic location of residence and defect type using the Chi-square test. Results Overall, the study included 31,374 patients from 91 STS-CHS participating centers across the United States. Prenatal detection occurred in 34% and increased every year from 26% (2006) to 42% (2012). There was significant geographic variation in rates of prenatal diagnosis across states (range 11.8 – 53.4%, p < 0.0001). Significant variability by defect type was also observed with higher rates for lesions identifiable on 4-chamber view versus those requiring outflow tract visualization (57% versus 32%, p < 0.0001). Conclusions Rates of prenatal CHD detection in the United States remain low for patients undergoing surgical intervention, with significant variability between states and across defect type. Further studies are needed to identify reasons for this variation and the potential impact on patient outcomes. PMID:26216324

  7. Variation in Prenatal Diagnosis of Congenital Heart Disease in Infants.

    PubMed

    Quartermain, Michael D; Pasquali, Sara K; Hill, Kevin D; Goldberg, David J; Huhta, James C; Jacobs, Jeffrey P; Jacobs, Marshall L; Kim, Sunghee; Ungerleider, Ross M

    2015-08-01

    Prenatal diagnosis allows improved perioperative outcomes for fetuses with certain forms of congenital heart disease (CHD). Variability in prenatal diagnosis has been demonstrated in other countries, leading to efforts to improve fetal imaging protocols and access to care, but has not been examined across the United States. The objective was to evaluate national variation in prenatal detection across geographic region and defect type in neonates and infants with CHD undergoing heart surgery. Cardiovascular operations performed in patients ≤6 months of age in the United States and included in the Society of Thoracic Surgeons Congenital Heart Surgery Database (2006-2012) were eligible for inclusion. Centers with >15% missing prenatal diagnosis data were excluded from the study. Prenatal diagnosis rates were compared across geographic location of residence and defect type using the χ(2) test. Overall, the study included 31,374 patients from 91 Society of Thoracic Surgeons Congenital Heart Surgery Database participating centers across the United States. Prenatal detection occurred in 34% and increased every year, from 26% (2006) to 42% (2012). There was significant geographic variation in rates of prenatal diagnosis across states (range 11.8%-53.4%, P < .0001). Significant variability by defect type was also observed, with higher rates for lesions identifiable on 4-chamber view than for those requiring outflow tract visualization (57% vs 32%, P < .0001). Rates of prenatal CHD detection in the United States remain low for patients undergoing surgical intervention, with significant variability between states and across defect type. Additional studies are needed to identify reasons for this variation and the potential impact on patient outcomes. Copyright © 2015 by the American Academy of Pediatrics.

  8. The Sonographic Features of the Thyroid Gland After Treatment with Radioiodine Therapy in Patients with Graves' Disease.

    PubMed

    English, Collette; Casey, Ruth; Bell, Marcia; Bergin, Diane; Murphy, Joseph

    2016-01-01

    The aim of the study was to describe the typical sonographic features of the thyroid gland in patients with Graves' hyperthyroidism after radioiodine therapy (RIT). Thirty patients (21 female and 9 male) with a mean age of 53 y (standard deviation [SD] ± 11.3) and with previous Graves' disease who had been successfully treated with RIT were enrolled in the study. All were hypothyroid or euthyroid after treatment. The thyroid ultrasound was carried out by a single experienced operator with an 8-MHz linear transducer. Volume, vascularity, echogenicity and echotexture of the glands were noted. The presence of nodules and lymph nodes was also documented. The mean volumes of the right lobe were 2.4 mL ± 2.9 SD (0.6-14) and the left lobe were 1.8 mL ± 1.9 SD (0.4-9.1), with a mean total volume of 4.2 mL ± 4.7 SD (1.3-19.1). Of those who had a pre-treatment ultrasound (23%), the percentage reduction in volume was 87% (p < 0.05); 93% of the glands were hypovascular, with the remaining 7% showing normal vascularity. The glands were hyperechoic and of coarse echotexture. Overall, the sonographic features of the post-RIT gland included a significantly reduced mean total volume of 4.2 mL, hypovascularity, coarse echotexture and hyperechogenicity.

  9. Prenatal diagnosis of Gaucher disease using next-generation sequencing.

    PubMed

    Yoshida, Shinichiro; Kido, Jun; Matsumoto, Shirou; Momosaki, Ken; Mitsubuchi, Hiroshi; Shimazu, Tomoyuki; Sugawara, Keishin; Endo, Fumio; Nakamura, Kimitoshi

    2016-09-01

    In the prenatal diagnosis of Gaucher disease (GD), glucocerebrosidase (GBA) activity is measured with fetal cells, and gene analysis is performed when pathogenic mutations in GBA are identified in advance. Herein is described prenatal diagnosis in a family in which two children had GD. Although prior genetic information for this GD family was not obtained, next-generation sequencing (NGS) was carried out for this family because immediate prenatal diagnosis was necessary. Three mutations were identified in this GD family. The father had one mutation in intron 3 (IVS2 + 1), the mother had two mutations in exons 3 (I[-20]V) and 5 (M85T), and child 1 had all three of these mutations; child 3 had none of these mutations. On NGS the present fetus (child 3) was not a carrier of GD-related mutations. NGS may facilitate early detection and treatment before disease onset. © 2016 Japan Pediatric Society.

  10. Prenatal prevention for severe thalassemia disease at Srinagarind Hospital.

    PubMed

    Ratanasiri, Thawalwong; Charoenthong, Chutharat; Komwilaisak, Ratana; Changtrakul, Yotsombat; Fucharoen, Supan; Wongkham, Jamras; Kleebkaow, Pilaiwan; Seejorn, Kanok

    2006-10-01

    To evaluate the results and cost-effectiveness of prenatal prevention measurement in severe thalassemia diseases at Srinagarind Hospital. Descriptive study. Antenatal care (ANC) Clinic, Srinagarind Hospital, Faculty of Medicine, Khon Kaen University. 1,498 thalassemic screened pregnant women first presenting at ANC Clinic at gestational age less than 17 weeks. Medical records of thalassemic screened pregnant women between February 2002 and February 2005 were analyzed. Those with a value of mean corpuscular volume (MCV) less than 80 fl, or positive dichlorophenol indophenol precipitation test (KKU-DCIP Clear Reagent Kit) underwent hemoglobin (Hb) typing by high performance liquid chromatography (HPLC) together with thalassemia investigation (complete blood count, MCV and Hb typing) of their husbands and to identify couples at risk of 3 severe thalassemia diseases; Hb Bart's hydrops fetalis, homozygous, -thalassemia and, -thalassemia/ Hb E disease. Then they were advised to undergo DNA analysis and, if they had fetal risk, appropriate prenatal diagnosis was offered. Number of affected fetuses detected by prenatal diagnosis. Nine hundred and ninety six pregnant women (66.49%) were positive on screening. Of these, 642 (64.46%) had thalassemia investigation done with their spouses. There were 19 couples at risk (1.27% of total screened pregnant women) for having fetal severe thalassemia disease from initial laboratory results. Most of them were, -thalassemia/ Hb E diseases. We found only 10 pregnant women (52.63%) that had undergone prenatal diagnosis. The consequent results were two affected fetuses (20%), one was Hb Bart's hydrops fetalis, and the other was, o-thalassemia/ Hb E disease. In these cases, their parents decided to discontinue the pregnancy. Our prevention program could save 1.14 million bahts for the cost of treatment in two prevented severe thalassemia cases. The prenatal prevention program of severe thalassemia disease at Srinagarind Hospital can

  11. A Comparative Study of Sonographic Grading of Renal Parenchymal Changes and Estimated Glomerular Filtration Rate (eGFR) using Modified Diet in Renal Disease Formula

    PubMed Central

    Shivalli, Siddharudha; Pai, B.H. Santhosh; Acharya, Koteshwara Devadasa; Gopalakrishnan, Ravichandra; Srikanth, Vivek; Reddy, Vishwanath; Haris, Arafat

    2016-01-01

    Introduction The sonographic findings are of help in evaluating the nephrological diseases. Glomerular filtration rate is another parameter for assessing the reserved renal function and an indicator of prognosis. In clinical practice GFR estimation (eGFR) is done by using a mathematical formula. In our study, we compared the sonographic grading of renal parenchymal changes with eGFR calculated using Modified Diet in Renal Diseases formula based on serum creatinine, age, gender and ethnicity. Aim To evaluate the relevance of sonographic grading of renal parenchymal changes in assessing the severity of the renal disease and comparing it to the eGFR calculated using MDRD formula based on the age, gender and serum creatinine value of the patient. Materials and Methods The adult patients with suspected kidney disease referred for sonography of abdomen were our study participants. As per our study design following strict inclusion and exclusion criteria, patients were selected as study participants and for each of the patient’s renal parenchymal status, serum creatinine, age, gender and ethnicity were documented. Results A total of 70 patients were our study participants, out of which 67.1% were males and 32.9% were females. Our study showed a linear correlation between sonographic grading of renal parenchymal changes with eGFR. Conclusion We conclude that by evaluating the kidneys with sonography and calculating eGFR using MDRD formula the renal status will be more accurately interpreted. PMID:27042555

  12. Prenatal molecular diagnosis in RASA1-related disease.

    PubMed

    Palmyre, Aurélien; Eyries, Mélanie; Senat, Marie-Victoire; Ozanne, Augustin; Staraci, Stéphanie; Dufour, Philippe; Chinet, Thierry; Lacombe, Pascal; Soubrier, Florent; Charron, Philippe

    2017-10-12

    RASA1-related disease is a rare autosomal dominant disease characterized by capillary malformations, arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs). Penetrance is nearly complete and vascular malformations may cause serious complications such as organ injury due to oxygenation disorder, brain abscess, hemorrhage and stroke. Early diagnosis is useful in order to discuss optimal management, including AVMs/AVFs embolization or surgical procedures, and try to prevent some of the complications. In this context, molecular testing of RASA1 gene mutation in relatives may help to better manage the family. All arteriovenous malformations are however not accessible to such procedures. In addition, these therapeutic procedures may result in potential side effects and complications. A couple was referred to our genetics unit and asked us for prenatal genetic testing about a RASA-1 mutation. Here we discuss about arguments that led our team to accept prenatal testing. To the best of our knowledge, no molecular prenatal diagnosis was reported until now in RASA1-related diseases. This first report of prenatal diagnosis in RASA1-related diseases may also offer perspectives for a more general discussion in the field of inherited arteriovenous malformations. This article is protected by copyright. All rights reserved.

  13. Costs of prenatal detection of congenital heart disease.

    PubMed

    Jegatheeswaran, Anusha; Oliveira, Carol; Batsos, Constantine; Moon-Grady, Anita J; Silverman, Norman H; Hornberger, Lisa K; Coyte, Peter; Friedberg, Mark K

    2011-12-15

    Little information is available about the transportation costs incurred from the missed prenatal diagnosis of congenital heart disease (CHD). The objectives of the present study were to analyze the costs of emergency transportation related to the postnatal diagnosis of major CHD and to perform a cost/benefit analysis of additional training for ultrasound technicians to study the implications of improved prenatal detection rates. The 1-year costs incurred for emergency transportation of pre- and postnatally diagnosed infants with CHD in Northern California and North Western Nevada were calculated and compared. The prenatal detection rate in our cohort (n = 147) was 30.6%. Infants postnatally diagnosed were 16.5 times more likely (p <0.001) to require emergency transport. The associated emergency transportation costs were US$542,143 in total for all patients with CHD. The mean cost per patient was $389.00 versus $5,143.51 for prenatally and postnatally diagnosed infants, respectively (p <0.001). Assuming an improvement in detection rates after 1-day training for ultrasound technicians, the investment in training cost can be recouped in 1 year if the detection rate increased by 2.4% to 33%. Savings of $6,543,476 would occur within 5 years if the detection rate increased to 50%. In conclusion, CHD diagnosed postnatally results in greater costs related to emergency transportation of ill infants. Improving the prenatal detection rates through improved ultrasound technician training could result in considerable cost savings.

  14. Prenatal sonographic diagnosis of premature constriction of the fetal ductus arteriosus after maternal self-medication with benzydamine hydrochloride: report of 3 cases and review of the literature.

    PubMed

    Krzeszowski, Waldemar; Wilczyński, Jan; Grzesiak, Mariusz; Nowakowska, Dorota

    2015-03-01

    We report 3 cases of prenatal diagnosis of premature constriction of the ductus arteriosus after maternal benzydamine hydrochloride therapy (3-mg lozenges) in third-trimester pregnancies. In each case, fetal echocardiography revealed a dilated, hypocontractile right ventricle with severe tricuspid regurgitation and constriction of the ductus arteriosus. Although the effect of indomethacin and other nonsteroidal anti-inflammatory drugs on prenatal ductal constriction is well known, readily available over-the-counter nonsteroidal anti-inflammatory drugs such as benzydamine can have an equally deleterious effect and are best avoided in the third trimester of pregnancy. © 2015 by the American Institute of Ultrasound in Medicine.

  15. [Prenatal care in Germany].

    PubMed

    Vetter, K; Goeckenjan, M

    2013-12-01

    Prenatal care in Germany is based on a nationwide standardized program of care for pregnant women. Besides support and health counseling, it comprises prevention or early detection of diseases or unfavorable circumstances with risks for mother and child. Prenatal care is regulated by law and structured by directives and standard procedures in maternity guidelines (Mutterschafts-Richtlinien). This includes information and counseling of future mothers on offers of psychosocial and medical assistance in normal pregnancies as well as in unplanned or unwanted pregnancies. Further aspects are clinical examinations and risk determinations for genetic variations or direct genetic analysis. During pregnancy, medical history, clinical examination, and blood testing are part of the sophisticated program, which includes at least three standardized sonographic examinations at 10, 20, and 30 weeks of gestation. The maternity passport allows a pregnant woman to carry the most relevant information on her pregnancy and her personal risks with her. For 45 years now, women in Germany are used to carrying their Mutterpass. Societal changes have influenced the central goals of maternity care: In the beginning, the mortality of mother and child had to be reduced. Today, maternal morbidity and impaired development of the child are the center of interest, with expansion to familial satisfaction. The reduction in the mortality and morbidity of both the mother and the child during pregnancy, delivery, and postpartum can be attributed to prenatal care. Thus, investment in a program of nationwide structured prenatal care seems to be worthwhile-despite the lack of evidence concerning its effectiveness.

  16. Prevalence and sonographic changes compatible with fatty liver disease in patients referred for abdominal ultrasound examination in Aracaju, SE*

    PubMed Central

    Cruz, Josilda Ferreira; Cruz, Mário Augusto Ferreira; Machado Neto, José; de Santana, Demetrius Silva; Oliveira, Cristiane Costa da Cunha; Lima, Sônia Oliveira

    2016-01-01

    Objective To estimate the prevalence and evaluate sonographic findings compatible with changes consistent with hepatic steatosis in patients referred for abdominal ultrasonography at four reference centers in Aracaju, SE, Brazil. Materials and Methods Prospective, descriptive survey, with analytical and quantitative approach, comprising abdominal ultrasonography scans performed with a convex, dynamic 3.75 MHz transducer. Liver dimensions and parenchymal echotexture were evaluated, classifying hepatic steatosis into grades (1, 2 or 3). The SPSS® 22.0 software was used for statistical analysis, adopting p < 0.05 as significance level. Results A total of 800 individuals (561 women and 239 men) were evaluated. The prevalence of steatosis was 29.1%, and the male patients were most affected, presenting with more advanced grades of disease (p = 0.021), as follows: 119 grade 1 (51.0%); 94 grade 2 (40.4%); and 20 grade 3 (8.6%). The median age patients' was 46 years. Conclusion In the present study sample, the prevalence of hepatic steatosis was high, particularly in the male patients. Ultrasonography is suggested as a first choice for the diagnosis of this condition, considering its wide availability, low cost and absence of side effects or risks to the patient. PMID:26929453

  17. Fetal programming of adult disease: implications for prenatal care.

    PubMed

    Lau, Christopher; Rogers, John M; Desai, Mina; Ross, Michael G

    2011-04-01

    The obesity epidemic, including a marked increase in the prevalence of obesity among pregnant women, represents a critical public health problem in the United States and throughout the world. Over the past two decades, it has been increasingly recognized that the risk of adult health disorders, particularly metabolic syndrome, can be markedly influenced by prenatal and infant environmental exposures (ie, developmental programming). Low birth weight, together with infant catch-up growth, is associated with a significant risk of adult obesity and cardiovascular disease, as well as adverse effects on pulmonary, renal, and cerebral function. Conversely, exposure to maternal obesity or high birth weight also represents an increased risk for childhood and adult obesity. In addition, fetal exposure to select chemicals (eg, phytoestrogens) or environmental pollutants (eg, tobacco smoke) may affect the predisposition to adult disease. Animal models have confirmed human epidemiologic findings and provided insight into putative programming mechanisms, including altered organ development, cellular signaling responses, and epigenetic modifications (ie, control of gene expression without modification of DNA sequence). Prenatal care is transitioning to incorporate goals of optimizing maternal, fetal, and neonatal health to prevent or reduce adult-onset diseases. Guidelines regarding optimal pregnancy nutrition and weight gain, management of low- and high-fetal-weight pregnancies, use of maternal glucocorticoids, and newborn feeding strategies, among others, have yet to fully integrate long-term consequences on adult health.

  18. Prenatal predictors of chronic lung disease in very preterm infants

    PubMed Central

    Henderson‐Smart, D J; Hutchinson, J L; Donoghue, D A; Evans, N J; Simpson, J M; Wright, I

    2006-01-01

    Objective To identify prenatal risk factors for chronic lung disease (CLD) at 36 weeks postmenstrual age in very preterm infants. Population Data were collected prospectively as part of the ongoing audit of the Australian and New Zealand Neonatal Network (ANZNN) of all infants born at less than 32 weeks gestation admitted to all tertiary neonatal intensive care units in Australia and New Zealand. Methods Prenatal factors up to 1 minute of age were examined in the subset of infants born at gestational ages 22–31 weeks during 1998–2001, and who survived to 36 weeks postmenstrual age (n = 11 453). Factors that were significantly associated with CLD at 36 weeks were entered into a multivariate logistic regression model. Results After adjustment, low gestational age was the dominant risk factor, with an approximate doubling of the odds with each week of decreasing gestational age from 31 to less than 25 weeks (trend p<0.0001). Birth weight for gestational age also had a dose‐response effect: the lower the birth weight for gestational age, the greater the risk, with infants below the third centile having 5.67 times greater odds of CLD than those between the 25th and 75th centile (trend p<0.0001). There was also a significantly increased risk for male infants (odds ratio 1.51 (95% confidence interval 1.36 to 1.68), p<0.0001). Conclusions These population based data show that the prenatal factors low gestational age, low birth weight for gestational age, and male sex significantly predict the development of chronic respiratory insufficiency in very preterm infants and may assist clinical decision about delivery. PMID:16131530

  19. [Sonographic analyses of obstructive diseases of the salivary gland using intraductal applications of contrast agent].

    PubMed

    Zengel, P; Berghaus, A; Paprottka, P; Clevert, D A; Clevert, D M

    2011-04-01

    Obstructive diseases of the salivary glands are a common problem of the salivary glands; often based on Sialolithiasis, duct stenosis, or other rarer reasons. There exist several diagnostic features to classify the disease; however, ultrasound or conventional radiological imaging does not provide a diagnosis in 5-10% of all cases. The intraductal applied contrast-enhanced ultrasound (IA-CEUS) improves the visualization of obstructive diseases of the salivary glands; simultaneously an evaluation of the parenchyma of the glands is possible. We think IA-CEUS is a promising tool, which improved the diagnostic assessment capabilities of ultrasound and results in a better treatment for patients with obstructive salivary gland diseases. © Georg Thieme Verlag KG Stuttgart ˙ New York.

  20. Sonographic findings in an isolated widened fetal subarachnoid space.

    PubMed

    Tongsong, Theera; Puntachai, Pongsun; Tongprasert, Fuanglada; Srisupundit, Kasemsri; Luewan, Suchaya; Traisrisilp, Kuntharee

    2015-05-01

    The purpose of this series was to describe sonographic features of an isolated widened fetal subarachnoid space with a thin cerebral mantle and possible associations. Between January 2004 and December 2013, fetuses with a prenatal diagnosis of a widened subarachnoid space were prospectively recruited and followed. Histories of medical and familial diseases, as well as other demographic data such as drug exposure and lifestyles, were assessed and prospectively recorded. The women were investigated for possible associated factors. Ten pregnant women were recruited. Their fetuses showed various degrees of a widened subarachnoid space, ranging from 5 to 20 mm. Nearly all were diagnosed in the second half of pregnancy. Four cases had normal brain structures documented at midpregnancy anomaly screening. Only 1 case had a prenatal diagnosis of a widened subarachnoid space at 20 weeks' gestation. Two fetuses had exposure to alcohol in utero; 2 were proven to have cytomegalovirus infection; 1 had subarachnoid hemorrhage secondary to maternal use of warfarin; and 1 had a diagnosis of lissencephaly. Only 1 case in this series had normal postnatal development. A prenatal series of fetal widened subarachnoid spaces with possible associated factors is described. Although such relationships were not fully proven, they should be index cases for future studies.

  1. Sonographic assessment of carpal tunnel syndrome in rheumatoid arthritis: prevalence and correlation with disease activity.

    PubMed

    Karadag, Omer; Kalyoncu, Umut; Akdogan, Ali; Karadag, Yesim Sucullu; Bilgen, Sule Apras; Ozbakır, Senay; Filippucci, Emilio; Kiraz, Sedat; Ertenli, Ihsan; Grassi, Walter; Calgüneri, Meral

    2012-08-01

    Carpal tunnel syndrome (CTS) is one of the most frequent extra-articular manifestations of rheumatoid arthritis (RA). High frequency ultrasonography (US) is a sensitive and specific method in diagnosis of CTS. This study is aimed to: firstly assess diameter frequency of CTS in RA with US and compare with a control group; secondly, investigate relationship of CTS with disease activity. One hundred consecutive RA patients (women/men: 78/22) fulfilling ACR 1987 RA criteria and 45 healthy controls (women/control: 34/11) were enrolled into study. Disease activity parameters, RA and CTS patient global assessment and health assessment questionnaire (HAQ-DI) were recorded. Both patient and control group were questioned about secondary causes of CTS, and Katz hand diagram, Boston CTS questionnaire and Phalen ve Tinel tests were applied once for each hand. Wrist joint and carpal tunnel were assessed with US grey scale and power Doppler US, then cross-sectional area of median nerve (CSA) was calculated. Patients with median nerve CSA between 10.0 and 13.0 mm(2) were evaluated with electromyography (EMG). CTS was diagnosed if CSA of median nerve >13.0 mm(2) or CTS was shown with NCS. Although there was no difference between RA patients and controls in age, sex, history of DM (+) and goitre, CTS was more frequent in RA group (respectively, 17.0% vs. 4.4%, P = 0.038). In RA group with CTS, age, history of DM, disease duration, HAQ-DI score, CTS patient global score, Boston symptom severity and functional status scores were elevated compared to without CTS [respectively, 57 (36-73) vs. 50 (24-76), P = 0.041; 35.3% vs. 6.0%, P < 0.001; 108 (12-396) months vs. 72 (6-360) months, P = 0.036; 1.93 (0.75-2.87) vs. 1.125 (0-2.75), P = 0.013; 52 (1-97) vs. 25 (0-91), P = 0.001; 2.81 (1.18-4.17) vs. 2.0 (1.0-4.01), P = 0.01; 3.37 (1.37-5.0) vs. 2.25 (1.0-5.0), P = 0.008]. No difference was found between CTS (+) and (-) RA patients in acute phase reactants, disease activity and US findings

  2. Cytogenetic analysis in fetuses with late onset abnormal sonographic findings.

    PubMed

    Bardin, Ron; Hadar, Eran; Haizler-Cohen, Lylach; Gabbay-Benziv, Rinat; Meizner, Israel; Kahana, Sarit; Yeshaya, Josepha; Yacobson, Shiri; Cohen-Vig, Lital; Agmon-Fishman, Ifaat; Basel-Vanagaite, Lina; Maya, Idit

    2017-09-15

    To determine the rate of chromosomal cytogenetic abnormalities in fetuses with late onset abnormal sonographic findings. Retrospective cohort of women who underwent amniocentesis at or beyond 23 weeks of gestation, for fetal karyotype and chromosomal microarray analysis, indicated due to late onset abnormal sonographic findings. All 103 fetuses had a normal karyotype. Ninety-five women also had chromosomal microarray analysis (CMA) performed. The detection rate of abnormal CMA (5/95, 5.3%) was similar to that of women who underwent amniocentesis due to abnormal early onset ultrasound findings detected at routine prenatal screening tests during the first or early second trimester (7.3%, P=0.46) and significantly higher than that for women who underwent amniocentesis and CMA upon request, without a medical indication for CMA (0.99%, P<0.0001). Late onset sonographic findings are an indication for amniocentesis, and if performed, CMA should be applied to evaluate fetuses with late onset abnormal sonographic findings.

  3. [Genetic counseling and prenatal diagnosis in mitochondrial diseases].

    PubMed

    Klopstock, T; Gasser, T

    1999-06-01

    Since mitochondrial diseases lead frequently to severe phenotypes and are often hereditary, there is a need for genetic counselling of the affected families. The specific features of mitochondrial genetics, however, hamper straightforward definition of recurrence risks as in Mendelian diseases. Empirical risks were recently provided for MELAS and MERRF syndromes and for Leber hereditary optic neuropathy. In MELAS and MERFF, higher levels of mutant mtDNA in the mothers' blood were associated with an increased frequency of affected offspring. Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome are in general sporadic disorders without increased recurrence risks in the offspring. As Leigh syndrome is found with maternal, autosomal recessive or X chromosomal transmission, the definition of the molecular defect is crucial for genetic counselling. Prenatal diagnosis was reported only in one case of mitochondrial disease so far, and in our opinion it remains questionable because of the uncertain correlation of the proportion of mutant DNA in chorionic villi and in clinically relevant tissues such as brain.

  4. Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III.

    PubMed

    Nadjari, M; Fasouliotis, S J; Ariel, I; Raas-Rothschild, A; Bar-Ziv, J; Elchalal, U

    2000-08-01

    Microcephalic osteodysplastic primordial dwarfism is a rare disease characterized by unique clinical appearance and specific radiographic findings, and distinctive brain abnormalities. We describe the prenatal diagnosis of two siblings with microcephalic osteodysplastic primordial dwarfism types I/III at 23 and 26 weeks of gestation, respectively. Early detection by sequential antenatal sonographic evaluation is important for counselling families known to be at risk of this rare disease. Copyright 2000 John Wiley & Sons, Ltd.

  5. Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome

    PubMed Central

    García-Díaz, Lutgardo; Coserria, Félix; Antiñolo, Guillermo

    2013-01-01

    A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department at 37 weeks' gestation because of suspected congenital heart disease. Prenatal echocardiography showed biventricular hypertrophy and pericardial effusion, without additional abnormalities. Postnatal echocardiography confirmed prenatal diagnosis. Neonatal EKG showed biventricular hypertrophy and Wolff-Parkinson-White syndrome. Skeletal muscle biopsy was consistent with mitochondrial oxidative phosphorylation defect involving a combined defect of respiratory complexes I and IV. Echocardiographic followup during the first year of life showed progressive regression of hypertrophy and evolution to left ventricular myocardial noncompaction. PMID:23346437

  6. Prenatal testing in Huntington disease: after the test, choices recommence.

    PubMed

    Bouchghoul, Hanane; Clément, Stéphane-Françoise; Vauthier, Danièle; Cazeneuve, Cécile; Noel, Sandrine; Dommergues, Marc; Héron, Delphine; Nizard, Jacky; Gargiulo, Marcela; Durr, Alexandra

    2016-11-01

    The objective of this study was (1) to determine the impact of prenatal diagnosis (PND) for Huntington disease (HD) on subsequent reproductive choices and family structure; and (2) to assess whether children born after PND were informed of their genetic status. Out of 354 presymptomatic carriers of HD gene mutation, aged 18-45 years, 61 couples requested 101 PNDs. Fifty-four women, 29 female carriers and 25 spouses of male carriers, accepted to be interviewed (0.6-16.3 years after the last PND, median 6.5 years) on their obstetrical history and information given to children born after PND. Women were willing to undergo two or more PNDs with a final success rate of 75%. Reproductive decisions differed depending on the outcome of the first PND. If favourable, 62% couples decided against another pregnancy and 10% chose to have an untested child. If unfavourable, 83% decided for another pregnancy (P<0.01), and the majority (87%) re-entered the PND procedure. In contrast, after a second PND, only 37% asked for a PND and 30% chose to have an untested child. Thirty-three percent had both, tested and untested children. Among children born after PND, 10 years and older, 75% were informed of their genetic status. The decision to prevent transmission of the HD mutation is made anew with each pregnancy. Couples may need more psychological support after PND and pre-counselling sessions should take into account the effect of the outcome of a first PND on subsequent reproductive choices.

  7. Prenatal stress: Role in psychotic and depressive diseases

    PubMed Central

    Markham, Julie A.

    2011-01-01

    Rationale The birth of neurons, their migration to appropriate positions in the brain, and their establishment of the proper synaptic contacts happen predominately during the prenatal period. Environmental stressors during gestation can exert a major impact on brain development and thereby contribute to the pathogenesis of neuropsychiatric illnesses, such as depression and psychotic disorders including schizophrenia. Objective The objectives here are to present recent preclinical studies of the impact of prenatal exposure to gestational stressors on the developing fetal brain and discuss their relevance to the neurobiological basis of mental illness. The focus is on maternal immune activation, psychological stresses, and malnutrition, due to the abundant clinical literature supporting their role in the etiology of neuropsychiatric illnesses. Results Prenatal maternal immune activation, viral infection, unpredictable psychological stress, and malnutrition all appear to foster the development of behavioral abnormalities in exposed offspring that may be relevant to the symptom domains of schizophrenia and psychosis, including sensorimotor gating, information processing, cognition, social function, and subcortical hyperdopaminergia. Depression-related phenotypes, such as learned helplessness or anxiety, are also observed in some model systems. These changes appear to be mediated by the presence of proinflammatory cytokines and/or corticosteroids in the fetal compartment that alter the development the neuroanatomical substrates involved in these behaviors. Conclusion Prenatal exposure to environmental stressors alters the trajectory of brain development and can be used to generate animal preparations that may be informative in understanding the pathophysiological processes involved in several human neuropsychiatric disorders. PMID:20949351

  8. Accuracy of sonographic fetal gender determination: predictions made by sonographers during routine obstetric ultrasound scans

    PubMed Central

    Pollard, Karen; Garbett, Ian

    2015-01-01

    Abstract Objectives: The purpose of this study was to determine the accuracy of sonographer predictions of fetal gender during routine ultrasounds. Primarily, the study sought to investigate the accuracy of predictions made in the first trimester, as requests from parents wanting to know the gender of their fetus at this early scan are becoming increasingly common. Second and third trimester fetuses were included in the study to confirm the accuracy of later predictions. In addition, the mother's decision to know the gender was recorded to determine the prevalence of women wanting prenatal predictions. Methods: A prospective, cross sectional study was conducted in a specialist private obstetric practice in the Illawarra, NSW. A total of 640 fetuses across three trimesters were examined collectively by seven sonographers. Fetal gender was predicted using the sagittal plane only in the first trimester and either the sagittal or transverse plane in later trimesters. Phenotypic gender confirmation was obtained from hospital records or direct telephone contact with women postnatally. Results: Results confirmed 100% accuracy in predictions made after 14 weeks gestation. The overall success rate in the first trimester group (11–14 weeks) was 75%. When excluding those scans where a prediction could not be made, success rates increased to 91%. Results were less accurate for fetuses younger than 12 weeks, with an overall success rate of 54%. Male fetuses under 13 weeks were more likely to have gender incorrectly or unable to be assigned. After 13 weeks, success rates for correctly predicting males exceeded that of female fetuses. Statistical differences were noted in the success rates of individual sonographers. Sixty seven percent of women were in favour of knowing fetal gender from ultrasound. Publicly insured women were more likely to request gender disclosure than privately insured women. Conclusions: Sonographic gender determination provides high success rates in the

  9. Lingering prenatal effects of the 1918 influenza pandemic on cardiovascular disease

    PubMed Central

    Mazumder, B.; Almond, D.; Park, K.; Crimmins, E. M.; Finch, C. E.

    2009-01-01

    Prenatal exposure to the 1918 influenza pandemic (Influenza A, H1N1 subtype) is associated with ≥20% excess cardiovascular disease at 60 to 82 years of age, relative to cohorts born without exposure to the influenza epidemic, either prenatally or postnatally (defined by the quarter of birth), in the 1982–1996 National Health Interview Surveys of the USA. Males showed stronger effects of influenza on increased later ischemic heart disease than females. Adult height at World War II enlistment was lower for the 1919 birth cohort than for those born in adjacent years, suggesting growth retardation. Calculations on the prevalence of maternal infections indicate that prenatal exposure to even uncomplicated maternal influenza may have lasting consequences later in life. These findings suggest novel roles for maternal infections in the fetal programming of cardiovascular risk factors that are independent of maternal malnutrition. PMID:20198106

  10. Sonographic evaluation of induced abortion--experience in Nigeria.

    PubMed

    Adetiloye, V A; Dare, F O

    1998-01-01

    A sonographic evaluation of forty-six patients with suspected complications of unsafe induced abortion was performed prospectively. The sonographic features were correlated with surgical findings. Based on the sonographic findings, the patients were categorised into three groups. There was no clear association between the severity of sonographic or pathological findings and the time of presentation for ultrasound after the termination of pregnancy, but most of the patients presenting after 5 days belonged to groups II and III, i.e. had uterine complications with or without abdomino-pelvic complications. The commonest complication, sepsis, is variably expressed sonographically in all groups. Although, the sonographic appearances of sepsis are similar to those seen in pelvic inflammatory disease (PID), some features seen with post-abortal sepsis are peculiar. Apart from sepsis, other complications of abortion presented non-specific sonographic features. "Pseudouterus" appearance was demonstrated in one patient after hysterectomy. The likelihood of pre-operative diagnosis of uterine perforation is high when the presentation is early before the formation of complex echopatterns of sepsis or in the absence of free intraperitoneal gas from bowel perforation or gas-forming organism. Routing manual vacuum aspiration or therapeutic endometrial curettage is unnecessary where sonography shows no evidence of retained products post abortion.

  11. [Cloning techniques for mitochondrial diseases and prenatal diagnosis].

    PubMed

    Hanson, Charles; Wahlström, Jan

    2003-02-17

    Disorders caused by mutation in the mitochondrial DNA are uncommon. Due to the special pattern of inheritance and of the variability of penetrance the options to affected couples to have healthy children are few. So far traditional prenatal diagnosis is of limited benefit. The problems may be overcome by oocyte donation. However, if the couple wants their own biological offspring, no good method is available today. We discuss ooplasmic and nuclear transfer as possible future options for these couples to have healthy biological children.

  12. Sonographic markers for early diagnosis of fetal malformations

    PubMed Central

    Renna, Maria Daniela; Pisani, Paola; Conversano, Francesco; Perrone, Emanuele; Casciaro, Ernesto; Renzo, Gian Carlo Di; Paola, Marco Di; Perrone, Antonio; Casciaro, Sergio

    2013-01-01

    Fetal malformations are very frequent in industrialized countries. Although advanced maternal age may affect pregnancy outcome adversely, 80%-90% of fetal malformations occur in the absence of a specific risk factor for parents. The only effective approach for prenatal screening is currently represented by an ultrasound scan. However, ultrasound methods present two important limitations: the substantial absence of quantitative parameters and the dependence on the sonographer experience. In recent years, together with the improvement in transducer technology, quantitative and objective sonographic markers highly predictive of fetal malformations have been developed. These markers can be detected at early gestation (11-14 wk) and generally are not pathological in themselves but have an increased incidence in abnormal fetuses. Thus, prenatal ultrasonography during the second trimester of gestation provides a “genetic sonogram”, including, for instance, nuchal translucency, short humeral length, echogenic bowel, echogenic intracardiac focus and choroid plexus cyst, that is used to identify morphological features of fetal Down’s syndrome with a potential sensitivity of more than 90%. Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies. In the future, sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis (amniocentesis, etc.). PMID:24179631

  13. Tumor disease and associated congenital abnormalities on prenatal MRI.

    PubMed

    Nemec, Stefan F; Horcher, Ernst; Kasprian, Gregor; Brugger, Peter C; Bettelheim, Dieter; Amann, Gabriele; Nemec, Ursula; Rotmensch, Siegfried; Rimoin, David L; Graham, John M; Prayer, Daniela

    2012-02-01

    Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI. This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI. There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head-neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis. Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  14. Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis.

    PubMed

    Swift, Oscar; Vilar, Enric; Rahman, Belinda; Side, Lucy; Gale, Daniel P

    2016-12-01

    No recommendations currently exist regarding implementation of both prenatal diagnosis and preimplantation genetic diagnosis (PGD) for autosomal dominant polycystic kidney disease (ADPKD). This study evaluated attitudes in ADPKD patients with either chronic kidney disease (CKD) stages I-IV or end-stage renal failure (ESRF) toward prenatal diagnosis and PGD. Ninety-six ADPKD patients were recruited from an outpatient clinic, wards, and dialysis units. Thirty-eight patients had ESRF and 58 had CKD stages I-IV. Participants were given an information sheet on prenatal diagnosis and PGD and subsequently completed a questionnaire. The median age of participants was 51.5 years. Seventeen percent of ADPKD patients with CKD and 18% of ADPKD patients with ESRF would consider prenatal diagnosis and termination of pregnancy for ADPKD. Fifty percent with CKD would have opted for PGD (or might consider it in the future) were it available and funded by the UK National Health Service, compared to 63% in the ESRF group (p = 0.33). Sixty-nine percent in the CKD group and 68% in the ESRF group believed that PGD should be offered to other patients. There was a spectrum of attitudes among this cohort. A proportion of patients believe that PGD should be made available to prospective parents with this disease. The discrepancy between the low proportion (17% CKD, 18% ESRF) who would consider prenatal diagnosis and termination of pregnancy and the higher number who hypothetically express an intention or wish to access PGD (50% CKD and 63% ESRF) indicates far greater acceptability for diagnostic methods that occur before embryo implantation. It is not known how the development of methods to identify patients whose renal function is likely to decline rapidly and treatments altering the natural history of ADPKD will affect these attitudes.

  15. Sonographic assessment of clubfoot.

    PubMed

    Gigante, Cosimo; Talenti, E; Turra, S

    2004-06-01

    This study was performed to develop a standardized methodology for the sonographic assessment of clubfoot at birth and at the end of both conservative treatment and surgical correction. Forty-two congenital clubfeet and 42 normal feet were examined sonographically in the position of spontaneous alignment and during passive manual correction. Scans along 4 planes provided information relevant to the assessment: sagittal posterior, sagittal anterior, coronal lateral, and transverse. Sagittal posterior sonograms demonstrated the progressive gain of dorsiflexion ability during the different steps of treatment for clubfoot. Sagittal anterior sonograms could not demonstrate the normal alignment of the navicular in clubfeet because of the bone's medial displacement. On transverse sonograms, the talar head and the medially displaced navicular may lie on the same plane, depending on the severity of the deformity. Coronal lateral sonograms provided for estimation of the relationships between the calcaneus and cuboid, which were described by the calcaneal-cuboid angle. Sonography is a promising technique for assessment and monitoring of clubfoot during treatment. The method described here yields accurate and reproducible information about the anatomy of the nonossified clubfoot, helping the orthopedic team decide on appropriate treatment steps. Copyright 2004 Wiley Periodicals, Inc.

  16. Systematic review of accuracy of prenatal diagnosis for abnormal chromosome diseases by microarray technology.

    PubMed

    Xu, H B; Yang, H; Liu, G; Chen, H

    2014-10-31

    The accuracy of prenatal diagnosis for abnormal chromosome diseases by chromosome microarray technology and karyotyping were compared. A literature search was carried out in the MEDLINE database with the keywords "chromosome" and "karyotype" and "genetic testing" and "prenatal diagnosis" and "oligonucleotide array sequence". The studies obtained were filtered by using the QUADAS tool, and studies conforming to the quality standard were fully analyzed. There was one paper conforming to the QUADAS standards including 4406 gravidas with adaptability syndromes of prenatal diagnosis including elderly parturient women, abnormal structure by type-B ultrasound, and other abnormalities. Microarray technology yielded successful diagnoses in 4340 cases (98.8%), and there was no need for tissue culture in 87.9% of the samples. All aneuploids and non-parallel translocations in 4282 cases of non-chimera identified by karyotyping could be detected using microarray analysis technology, whereas parallel translocations and fetal triploids could not be detected by microarray analysis technology. In the samples with normal karyotyping results, type-B ultrasound showed that 6% of chromosomal deficiencies or chromosome duplications could be detected by microarray technology, and the same abnormal chromosomes were detected in 1.7% of elderly parturient women and samples with positive serology screening results. In the prenatal diagnosis test, compared with karyotyping, microarray technology could identify the extra cell genetic information with clinical significance, aneuploids, and non-parallel translocations; however, its disadvantage is that it could not identify parallel translocations and triploids.

  17. The expressivist objection to prenatal testing: the experiences of families living with genetic disease.

    PubMed

    Boardman, Felicity Kate

    2014-04-01

    The expressivist objection to prenatal testing is acknowledged as a significant critique of prenatal testing practices most commonly advanced by disability rights supporters. Such writers argue that prenatal testing and selective termination practices are objectionable as they express disvalue not only of the foetus being tested, but also of disabled people as a whole, by focusing exclusively on the disabling trait. While the objection has been widely critiqued on the basis of its theoretical incoherence, this paper highlights the way in which it, nevertheless, is a significant mediator in decisions around the use of reproductive genetic technologies. By drawing on 41 in-depth qualitative interviews (drawn from a sample of 61) conducted in the UK between 2007 and 2009 with families and individuals living with a genetic disease, Spinal Muscular Atrophy (SMA), this paper highlights the ways in which expressivist objections feature prominently in the reproductive decisions of families living with SMA and the significant emotional burden they represent. While the literature on the expressivist objection has focused on the reproductive decisions of those undergoing prenatal testing for a condition of which they have little (or no) prior knowledge, the context of intimate familial relationships and extensive experience with the tested-for condition fundamentally alters the nature and impact of expressivist objections within families living with an inheritable condition. By focussing on the reproductive decisions of families living with SMA and their strategic management of the expressivist objection, this paper will address the call, made primarily by disability rights supporters, for 'experientially based' (as opposed to medical) information about the tested-for disability to be made available to would-be parents considering selective termination. It will be argued that parents' experiential knowledge of the tested-for disability can, in fact, amplify expressivist

  18. Roles of microRNAs in prenatal chondrogenesis, postnatal chondrogenesis and cartilage-related diseases.

    PubMed

    Shang, Jin; Liu, Huan; Zhou, Yue

    2013-12-01

    Cartilage has limited repair and regeneration capacity, thus damage of cartilage often results in its dysfunction and even chronic diseases like osteoarthritis (OA). Chondrogenesis induced by tissue-engineering methods is essential to treating cartilage-related diseases. MicroRNAs (miRNAs) are a class of small non-coding single-stranded RNAs which exert their biological effects by binding to the target messenger RNAs (mRNAs), resulting in decay or translation suppression of target mRNAs. There are emerging evidence indicating that miRNAs may play important roles in regulating both prenatal and postnatal chondrogenesis. During embryonic skeletal development, prenatal chondrogenesis is thought to be a precondition for formation of cartilage in developing limbs. Plenty of studies on different types of stem cells have undoubtedly proven their capacity of differentiating into chondrocytes. MiRNAs are found to comprehensively modulate these processes by establishing an interaction network with target genes, transcription factors and cytokines et al. In addition, translational application of miRNA technology has also been explored. In this review, we focus on the up-dated progress on regulatory mechanisms of miRNAs in prenatal and postnatal chondrogenesis. In addition, several miRNA target genes and roles of miRNAs in cartilage-related diseases are also discussed. This will contribute to studies of chondrogenesis mechanisms and development of new treating methods.

  19. Sonographic Elastography of Mastitis.

    PubMed

    Sousaris, Nicholas; Barr, Richard G

    2016-08-01

    Sonographic elastography has been shown to be a useful imaging modality in characterizing breast lesions as benign or malignant. However, in preliminary research, mastitis has given false-positive findings on both strain and shear wave elastography. In this article, we review the findings in mastitis with and without abscess formation on both strain and shear wave elastography. The elastographic findings in all cases were suggestive of a malignancy according to published thresholds. In cases of mastitis with abscess formation, there is a characteristic appearance, with a central very soft area (abscess cavity) and a very stiff outer rim (edema and inflammation). This appearance should raise the suspicion of mastitis with abscess formation, since these findings are rare in breast cancers.

  20. Detection Rate and Sonographic Signs of Trisomy 21 Fetuses at 14-17 Weeks of Gestation.

    PubMed

    Bronshtein, Eliezer; Solt, Ido; Bronshtein, Moshe; Gover, Ayala; Wolman, Igal; Blumenfeld, Zeev

    2017-01-01

    Early prenatal ultrasound is an important part of prenatal screening in Israel. No studies have described the rate of trisomy 21 [T21] identification at 14-17 weeks gestation. To describe the rate of T21 identification by transvaginal sonograms (TVS) at 14-17 weeks gestation. We conducted a historical prospective study. Since 1986, early TVS of 72,000 fetuses at 14-17 weeks gestation have been prospectively recorded together with prenatal screening data at a private ultrasound center (AL-KOL, Haifa). We calculated the fraction of T21 cases by dividing the total number of cases with abnormal sonographic findings by the total number of diagnosed T21 cases. We also examined the percentage of verified T21 cases that had completely normal prenatal screening tests prior to the early prenatal TVS, thus revealing the contribution of this examination to the existing prenatal screening. Fisher's exact test was used to calculate odds ratios for each sonographic marker. Of 137 T21 fetuses, 123 had sonographic markers on early TVS, yielding a prediction capability of at least 89.87%. Of all T21 cases, 14% had completely normal nuchal translucency/first-trimester screening prior to the abnormal 14-17 week TVS findings. Isolated abnormal sonographic findings, which were found to increase the risk for T21, were common atrioventricular septal canal (odds ratio 88.88), duodenal atresia (OR 88.23), nuchal edema (OR 39.14), and hydrocephalus (OR 15.78). Fetal hydronephrosis/pyelectasis was non-significant when isolated (OR 1), and cardiac echogenic focus was associated with a decreased risk (OR 0.13). Early prenatal TVS at 14-17 weeks may identify almost 90% of T21 and adds 14% to the identification rate at the first-trimester screening.

  1. Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008.

    PubMed

    van Rij, M C; de Koning Gans, P A M; Aalfs, C M; Elting, M; Ippel, P F; Maat-Kievit, J A; Vermeer, S; Verschuuren-Bemelmans, C C; van Belzen, M J; Belfroid, R D M; Losekoot, M; Geraedts, J P M; Roos, R A C; Tibben, A; de Die-Smulders, C E M; Bijlsma, E K

    2014-01-01

    This study aims to give an overview of the number of prenatal tests for Huntington's disease (HD), test results, and pregnancy outcomes in the Netherlands between 1998 and 2008 and to compare them with available data from the period 1987 to 1997. A total of 126 couples underwent prenatal diagnosis (PND) on 216 foetuses: 185 (86%) direct tests and 31 (14%) exclusion tests. In 9% of direct tests the risk for the foetus was 25%. Four at-risk parents (4%) carried intermediate alleles. Ninety-one foetuses had CAG expansions ≥36% or 50% risk haplotypes: 75 (82%) were terminated for HD, 12 (13%) were carried to term; four pregnancies were miscarried, terminated for other reasons or lost to follow-up. Unaffected pregnancies (122 foetuses) resulted in the birth of 112 children. The estimated uptake of PND was 22% of CAG expansion carriers (≥36 repeats) at reproductive age. PND was used by two new subgroups: carriers of intermediate alleles and 50% at-risk persons opting for a direct prenatal test of the foetus. A significant number of HD expansion or 50% risk pregnancies were continued. Speculations were made on causative factors contributing to these continuations. Further research on these couples' motives is needed.

  2. Prenatal prophylaxis of hyaline membrane disease with prednisolone: advantages and disadvantages.

    PubMed

    Wauer, R R; Hengst, P; Grauel, E L

    1983-01-01

    The purpose of the study was to evaluate the prophylaxis of hyaline membrane disease (HMD) with prenatal steroids from the viewpoint of neonatology. In 397 preterm infants of 27-35 week gestation the prenatal prophylaxis of HMD with prednisolone (200-300 mg over 48-72 h) significantly reduced the HMD morbidity and mortality rate (0-7th day of life), especially in newborns under 33-week gestation. HMD was not detected if a 48-h interval lay between the end of prednisolone application and birth. There was no influence on the severity and the lethality of HMD. The 29-day mortality rate in the prednisolone group (14.6%) corresponded more or less to that of the control group (16%). In the prednisolone group the increase in late mortality rate was due to a significantly higher number of late serious infections. The time interval between the rupture of the membranes and birth did not influence the infection rate and HMD frequency. At this time we cannot recommend a general prenatal glucocorticoid prophylaxis of HMD in cases of threatened preterm labor.

  3. The impact of prenatal diagnosis of congenital heart disease on pediatric cardiology and cardiac surgery.

    PubMed

    Chiappa, Enrico

    2007-01-01

    Since the early 1980s prenatal diagnosis of congenital heart disease (CHD) has progressively impacted on the practice of pediatric cardiology and cardiac surgery. Fetal cardiology today raises special needs in screening programs, training of the involved staff, and allocations of services. Due to the increased detection rate and to the substantial number of terminations, the reduced incidence of CHD at birth can affect the workload of centers of pediatric cardiology and surgery. In utero transportation and competition among centers may change the area of referral in favor of the best centers. Echocardiography is a powerful means to diagnose and to guide lifesaving medical treatment of sustained tachyarrhythmias in the fetus. Prenatal diagnosis not only improves the preoperative conditions in most cases but also postoperative morbidity and mortality in selected types of CHD. Intrauterine transcatheter valvuloplasty in severe outflow obstructive lesions has been disappointing so far and this technique remains investigational, until its benefits are determined by controlled trials. Prenatal diagnosis allows counselling of families which are better prepared for the foreseeable management and outcome of the fetus. These benefits can reduce the risks of litigation for missed ultrasound diagnosis. As increased costs can be expected in institutions dealing with a large number of fetal CHD, the administrators of these institutions should receive protected funds, proportional to their needs.

  4. Prenatal ultrasound screening of congenital heart disease in an unselected national population: a 21-year experience.

    PubMed

    Marek, Jan; Tomek, Viktor; Skovránek, Jan; Povysilová, Viera; Samánek, Milan

    2011-01-01

    To determine the prevalence and spectrum of congenital heart disease (CHD) and the impact of a national prenatal ultrasound screening programme on outcome in a well-characterised population. A comprehensive registry was created of all paediatric and fetal patients with CHD over a 21-year period (1986-2006) in the Czech Republic. The centralised healthcare system enabled confirmation of prenatal and postnatal findings clinically and by post mortem. In the entire cohort of 9475 fetuses referred for detailed cardiac evaluation, 1604 (16.9%) had CHD, of which 501 (31.2%) had additional extracardiac anomalies. In the pregnancies which continued, 59 (8.6%) of 685 fetuses died in utero, and 626 (91.4%) babies were born alive. Prenatal detection rate was highest in double outlet right ventricle (77.3%) and hypoplastic left heart (50.6%). Detection rate increased significantly (p<0.001) for 12/17 lesions comparing 1986-1999 and 2000-2006. In recent years, detection of hypoplastic left heart reached 95.8% while transposition of the great arteries was diagnosed antenatally in only 25.6%. The nationwide prenatal ultrasound screening programme enabled detection of major cardiac abnormalities in 1/3 of patients born with any CHD and 80% of those with critical forms. Nevertheless, owing to the severity of lesions and associated extracardiac anomalies, the overall mortality of antenatally diagnosed CHD remains high. These findings are important for the understanding natural history of CHD for the establishing of screening programmes in Europe.

  5. Developmental programming of cardiovascular disease by prenatal hypoxia.

    PubMed

    Giussani, D A; Davidge, S T

    2013-10-01

    It is now recognized that the quality of the fetal environment during early development is important in programming cardiovascular health and disease in later life. Fetal hypoxia is one of the most common consequences of complicated pregnancies worldwide. However, in contrast to the extensive research effort on pregnancy affected by maternal nutrition or maternal stress, the contribution of pregnancy affected by fetal chronic hypoxia to developmental programming is only recently becoming delineated and established. This review discusses the increasing body of evidence supporting the programming of cardiac susceptibility to ischaemia and reperfusion (I/R) injury, of endothelial dysfunction in peripheral resistance circulations, and of indices of the metabolic syndrome in adult offspring of hypoxic pregnancy. An additional focus of the review is the identification of plausible mechanisms and the implementation of maternal and early life interventions to protect against adverse programming.

  6. Sonographic diagnosis of pneumothorax.

    PubMed

    Volpicelli, Giovanni

    2011-02-01

    Over the last decade, the use of ultrasound as a technique to look for pneumothorax has rapidly evolved. This review aims to analyze and synthesize current knowledge on lung ultrasound targeted at the diagnosis of pneumothorax. The technique and its usefulness in different scenarios are explained, and its merits over conventional radiology are highlighted. A systematic literature search (1995-2010) was performed, involving PubMed, to describe the more recent scientific evidence on the topic. Moreover, this review is also a synopsis of experts' opinion and personal clinical experience. Ultrasound diagnosis of pneumothorax relies on the recognition of four sonographic artifact signs: the lung sliding, the B lines, the lung point, and the lung pulse. Combining these few signs, it is possible to accurately rule in or rule out pneumothorax at the bedside in several different clinical scenarios. Sensitivity of a lung ultrasound in the detection of pneumothorax is higher than that of conventional anterior-posterior chest radiography, and similar to that of computerized tomography. A major benefit of a lung ultrasound is that it can be used quickly to diagnose pneumothorax at the bedside in any critical situation, like cardiac arrest and hemodynamically unstable patients. Moreover, it can be used to detect radio-occult pneumothorax and to quantify the extension of the air layer. Advantages in terms of reduced complexity, feasibility at the bedside, and absence of exposure to ionizing radiation make lung ultrasound the method of choice in several common clinical situations.

  7. Prenatal exposure to perfluoroalkyl acids and prevalence of infectious diseases up to 4years of age.

    PubMed

    Goudarzi, Houman; Miyashita, Chihiro; Okada, Emiko; Kashino, Ikuko; Chen, Chi-Jen; Ito, Sachiko; Araki, Atsuko; Kobayashi, Sumitaka; Matsuura, Hideyuki; Kishi, Reiko

    2017-07-01

    Perfluoroalkyl acids (PFAAs) are synthetic chemicals with ability to repel oils and water, and have been widely used in many industrial and household applications such as adhesives and water- and stain-repellent surfaces to nonstick coatings. Animal studies have shown that PFAAs have immunotoxic effects. However, few epidemiological studies have investigated the effects of PFAAs on infectious diseases occurrence. We examined the relationship between prenatal exposure to PFAAs and prevalence of infectious diseases up to 4years of life. A total of 1558 mother-child pairs, who were enrolled in the Hokkaido Study on Environment and Children's Health, were included in this data analysis. Eleven PFAAs were measured in maternal plasma taken at 28-32weeks of gestation using ultra-performance liquid chromatography coupled to triple quadrupole tandem mass spectrometry. Participant characteristics were obtained from medical birth records and self-administered questionnaires during pregnancy and after delivery. Physicians' diagnosis of common infectious diseases including otitis media, pneumonia, respiratory syncytial virus infection, and varicella up to 4years were extracted from the mother-reported questionnaires. The number of children who developed infectious diseases up to 4years of age was as follows: otitis media, 649 (41.4%); pneumonia, 287 (18.4%); respiratory syncytial virus infection, 197 (12.6%); varicella 589 (37.8%). A total of 1046 (67.1%) children had at least one of the diseases defined as total infectious diseases. After adjusting for appropriate confounders, PFOS levels in the highest quartile were associated with increased odds ratios (ORs) of total infectious diseases (Q4 vs. Q1 OR: 1.61; 95% CI: 1.18, 2.21; p for trend=0.008) in all children. In addition, perfluorohexane sulfonate (PFHxS) was associated with a higher risk of total infectious diseases only among girls (Q4 vs. Q1 OR: 1.55, 95% CI: 0.976, 2.45; p for trend=0.045). We found no association

  8. Potential latent effects of prenatal cocaine exposure on growth and the risk of cardiovascular and metabolic disease in childhood.

    PubMed

    Messiah, Sarah E; Miller, Tracie L; Lipshultz, Steven E; Bandstra, Emmalee S

    2011-01-01

    The literature strongly suggests that prenatal exposure to certain medications and substances does not cause major malformations in early childhood. However, these exposures may have far-reaching latent health effects, such as restricted growth, hypertension, and cardiovascular events in adulthood. We reviewed the literature to identify the effects of prenatal cocaine exposure on growth and the risk of cardiovascular and metabolic disease in late adolescence and early adulthood by examining studies that were published in peer-reviewed English-language journals from 1990 through 2009 and indexed in MEDLINE. We found that animal and clinical studies of the influence of prenatal cocaine exposure on child and adolescent growth and the subsequent development of myocardial and cardiometabolic disease risk factors are few and inconclusive. Studies support the hypothesis that vascular and hemodynamic functions are partially programmed in early life and thus substantially influence vascular aging and arterial stiffening in later life. Sub-optimal fetal nutrition and growth may increase blood pressure and the development of cardiovascular and metabolic disease in late life. How prenatal cocaine and other drug exposure effects this relationship is currently unknown. Despite high rates of cocaine and other drug use during pregnancy (up to 18% in some studies), little is known about the health effects of prenatal cocaine exposure in adolescence and early adulthood. The few studies of early growth deficits persisting into adolescence are inconclusive. The literature provides little information on how exposed children grow into adulthood and about their subsequent risk of cardiometabolic and vascular disease.

  9. Tumoral calcinosis: sonographic sedimentation sign.

    PubMed

    Chakarun, Corey J; Talkin, Brenna; White, Eric A; Romero, Miriam; Ralls, Philip W

    2011-07-01

    We present the sonographic findings of tumoral calcinosis in two patients compared with conventional radiography, CT, and MRI. Sonography in both patients demonstrated fluid-sedimentation levels, with more echogenic debris layering dependently. This appearance has been referred to as the "sedimentation sign" on conventional radiography and results from dependent layering of hydroxyapatite crystals within cystic spaces of the lesion. There are only three reported cases in the world literature of sonographic findings in patients with tumoral calcinosis. We describe the first two cases of sonography demonstrating the "sedimentation sign," which may aid in the diagnosis of tumoral calcinosis. Copyright © 2011 Wiley Periodicals, Inc.

  10. The challenge of the reference and counter-reference system in the prenatal assistance to pregnant women with infectious diseases.

    PubMed

    Figueiredo, Elisabeth N; Vianna, Lucila A C; Peixe, Marina B; Ramos, Valdete M; Succi, Regina C M

    2009-09-01

    The objective of this study was to determine the prevalence of infectious diseases, such as syphilis, acquired immune deficiency syndrome (AIDS) and hepatitis B and C, in pregnant women who undertook their prenatal care in thirteen basic health units (BHU) in São Paulo city. The efficiency of the reference and counter-reference system in such prenatal infectious diseases was evaluated considering the medical recordings of the final result of the pregnancy and the vertical transmission rates of these diseases. It consists of an epidemiologic study whose observations were based on the notes of the prenatal medical and nurse records of pregnant women who had infectious diseases susceptible to vertical transmission and final infectious status registers of their concepts. Women's syphilis prevalence was 0. 86%, HIV and Hepatitis B was 0. 22% and Hepatitis C was 0. 36%. It's possible to conclude that there is no register of the reference and counter-reference system of these infectious diseases analyzed at the thirteen basic health units of the south-east region of São Paulo city evaluated in 2005. This lack of register makes it impossible to know the preventive measures taken and the vertical transmission rates. Making the professionals and the Health Coordination authorities aware of the importance of the dynamic of the prenatal attendance is necessary.

  11. Contribution of Large Animals to Translational Research on Prenatal Programming of Obesity and Associated Diseases.

    PubMed

    Gonzalez-Bulnes, Antonio; Chavatte-Palmer, Pascale

    2017-08-11

    The awareness of factors causing obesity and associated disorders has grown up in the last years from genome to a more complicated concept (developmental programming) in which prenatal and early-postnatal conditions markedly modify the phenotype and homeostasis of the individuals and determine juvenile growth, life-time fitness/obesity and disease risks. Experimentation in human beings is impeded by ethical issues plus inherent high variability and confounding factors (genetics, lifestyle and socioeconomic heterogeneity) and preclinical studies in adequate translational animal models are therefore decisive. Most of the studies have been performed in rodents, whilst the use of large animals is scarce. Having in mind body-size, handling-easiness and cost-efficiency, the main large animal species for use in biomedical research are rabbits, sheep and swine. The choice of the model depends on the research objectives. To outline the main features of the use of rabbits, sheep and swine and their contributions as translational models in prenatal programming of obesity and associated disorders. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  12. Maternal choline supplementation: A potential prenatal treatment for Down syndrome and Alzheimer’s disease

    PubMed Central

    Strupp, Barbara J.; Powers, Brian E.; Velazquez, Ramon; Ash, Jessica A.; Kelley, Christy M.; Alldred, Melissa J.; Strawderman, Myla; Caudill, Marie A.; Mufson, Elliott J.; Ginsberg, Stephen D.

    2016-01-01

    Although Down syndrome (DS) can be diagnosed prenatally, currently there are no effective treatments to lessen the intellectual disability (ID) which is a hallmark of this disorder. Furthermore, starting as early as the third decade of life, DS individuals exhibit the neuropathological hallmarks of Alzheimer’s disease (AD) with subsequent dementia, adding substantial emotional and financial burden to their families and society at large. A potential therapeutic strategy emerging from the study of trisomic mouse models of DS is to supplement the maternal diet with additional choline during pregnancy and lactation. Studies demonstrate that maternal choline supplementation (MCS) markedly improves spatial cognition and attentional function, as well as normalizes adult hippocampal neurogenesis and offers protection to basal forebrain cholinergic neurons (BFCNs) in the Ts65Dn mouse model of DS. These effects on neurogenesis and BFCNs correlate significantly with spatial cognition, suggesting functional relationships. In this review, we highlight some of these provocative findings, which suggest that supplementing the maternal diet with additional choline may serve as an effective and safe prenatal strategy for improving cognitive, affective, and neural functioning in DS. In light of growing evidence that all pregnancies would benefit from increased maternal choline intake, this type of recommendation could be given to all pregnant women, thereby providing a very early intervention for DS fetuses, and include babies born to mothers unaware that they are carrying a DS fetus. PMID:26391046

  13. Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.

    PubMed Central

    Schleutker, J; Sistonen, P; Aula, P

    1996-01-01

    Salla disease (SD) is an autosomal recessive disorder in which free sialic acid (N-acetyl neuraminic acid) accumulates in lysosomes. A specific transport mechanism for acidic monosaccharides on the lysosomal membrane has recently been described, but the molecular deficiency causing SD is still unknown. We have previously mapped the SD gene to 6q14-q15 by means of genetic linkage analysis and restricted the positive chromosomal area to less than 100 kb with linkage disequilibrium mapping. The two best allelic association markers have now retrospectively been used in five prenatal analyses originally studied with sialic acid assays in chorionic villus specimens. In four cases an unaffected fetus was predicted with a probability level of more than 94%, which was in concordance with the biochemical data. One fetus was predicted to be affected with over 96% probability, as was shown by free sialic acid assays in a CVS sample and in fetal tissues after termination of the pregnancy. Risk calculations incorporating disequilibrium were also used to predict the carrier status in members of six families with previous SD cases, and also in a few cases with no known family history of SD. DNA marker based analysis thus provides a reliable method for risk estimations in prenatal cases and for carrier identification of SD. PMID:8825046

  14. Maternal Choline Supplementation: A Potential Prenatal Treatment for Down Syndrome and Alzheimer's Disease.

    PubMed

    Strupp, Barbara J; Powers, Brian E; Velazquez, Ramon; Ash, Jessica A; Kelley, Christy M; Alldred, Melissa J; Strawderman, Myla; Caudill, Marie A; Mufson, Elliott J; Ginsberg, Stephen D

    2016-01-01

    Although Down syndrome (DS) can be diagnosed prenatally, currently there are no effective treatments to lessen the intellectual disability (ID) which is a hallmark of this disorder. Furthermore, starting as early as the third decade of life, DS individuals exhibit the neuropathological hallmarks of Alzheimer's disease (AD) with subsequent dementia, adding substantial emotional and financial burden to their families and society at large. A potential therapeutic strategy emerging from the study of trisomic mouse models of DS is to supplement the maternal diet with additional choline during pregnancy and lactation. Studies demonstrate that maternal choline supplementation (MCS) markedly improves spatial cognition and attentional function, as well as normalizes adult hippocampal neurogenesis and offers protection to basal forebrain cholinergic neurons (BFCNs) in the Ts65Dn mouse model of DS. These effects on neurogenesis and BFCNs correlate significantly with spatial cognition, suggesting functional relationships. In this review, we highlight some of these provocative findings, which suggest that supplementing the maternal diet with additional choline may serve as an effective and safe prenatal strategy for improving cognitive, affective, and neural functioning in DS. In light of growing evidence that all pregnancies would benefit from increased maternal choline intake, this type of recommendation could be given to all pregnant women, thereby providing a very early intervention for individuals with DS, and include babies born to mothers unaware that they are carrying a fetus with DS.

  15. Association of Prenatal Diagnosis of Critical Congenital Heart Disease With Postnatal Brain Development and the Risk of Brain Injury

    PubMed Central

    Peyvandi, Shabnam; De Santiago, Veronica; Chakkarapani, Elavazhagan; Chau, Vann; Campbell, Andrew; Poskitt, Kenneth J.; Xu, Duan; Barkovich, A. James; Miller, Steven; McQuillen, Patrick

    2016-01-01

    IMPORTANCE The relationship of prenatal diagnosis of critical congenital heart disease (CHD) with brain injury and brain development is unknown. Given limited improvement of CHD outcomes with prenatal diagnosis, the effect of prenatal diagnosis on brain health may reveal additional benefits. OBJECTIVE To compare the prevalence of preoperative and postoperative brain injury and the trajectory of brain development in neonates with prenatal vs postnatal diagnosis of CHD. DESIGN, SETTING, AND PARTICIPANTS Cohort study of term newborns with critical CHD recruited consecutively from 2001 to 2013 at the University of California, San Francisco and the University of British Columbia. Term newborns with critical CHD were studied with brain magnetic resonance imaging preoperatively and postoperatively to determine brain injury severity and microstructural brain development with diffusion tensor imaging by measuring fractional anisotropy and the apparent diffusion coefficient. Comparisons of magnetic resonance imaging findings and clinical variables were made between prenatal and postnatal diagnosis of critical CHD. A total of 153 patients with transposition of the great arteries and single ventricle physiology were included in this analysis. MAIN OUTCOMES AND MEASURES The presence of brain injury on the preoperative brain magnetic resonance imaging and the trajectory of postnatal brain microstructural development. RESULTS Among 153 patients (67% male), 96 had transposition of the great arteries and 57 had single ventricle physiology. The presence of brain injury was significantly higher in patients with postnatal diagnosis of critical CHD (41 of 86 [48%]) than in those with prenatal diagnosis (16 of 67 [24%]) (P = .003). Patients with prenatal diagnosis demonstrated faster brain development in white matter fractional anisotropy (rate of increase, 2.2%; 95% CI, 0.1%-4.2%; P = .04) and gray matter apparent diffusion coefficient (rate of decrease, 0.6%; 95%CI, 0.1%-1.2%; P = .02

  16. Association of Prenatal Diagnosis of Critical Congenital Heart Disease With Postnatal Brain Development and the Risk of Brain Injury.

    PubMed

    Peyvandi, Shabnam; De Santiago, Veronica; Chakkarapani, Elavazhagan; Chau, Vann; Campbell, Andrew; Poskitt, Kenneth J; Xu, Duan; Barkovich, A James; Miller, Steven; McQuillen, Patrick

    2016-04-01

    The relationship of prenatal diagnosis of critical congenital heart disease (CHD) with brain injury and brain development is unknown. Given limited improvement of CHD outcomes with prenatal diagnosis, the effect of prenatal diagnosis on brain health may reveal additional benefits. To compare the prevalence of preoperative and postoperative brain injury and the trajectory of brain development in neonates with prenatal vs postnatal diagnosis of CHD. Cohort study of term newborns with critical CHD recruited consecutively from 2001 to 2013 at the University of California, San Francisco and the University of British Columbia. Term newborns with critical CHD were studied with brain magnetic resonance imaging preoperatively and postoperatively to determine brain injury severity and microstructural brain development with diffusion tensor imaging by measuring fractional anisotropy and the apparent diffusion coefficient. Comparisons of magnetic resonance imaging findings and clinical variables were made between prenatal and postnatal diagnosis of critical CHD. A total of 153 patients with transposition of the great arteries and single ventricle physiology were included in this analysis. The presence of brain injury on the preoperative brain magnetic resonance imaging and the trajectory of postnatal brain microstructural development. Among 153 patients (67% male), 96 had transposition of the great arteries and 57 had single ventricle physiology. The presence of brain injury was significantly higher in patients with postnatal diagnosis of critical CHD (41 of 86 [48%]) than in those with prenatal diagnosis (16 of 67 [24%]) (P = .003). Patients with prenatal diagnosis demonstrated faster brain development in white matter fractional anisotropy (rate of increase, 2.2%; 95% CI, 0.1%-4.2%; P = .04) and gray matter apparent diffusion coefficient (rate of decrease, 0.6%; 95% CI, 0.1%-1.2%; P = .02). Patients with prenatal diagnosis had lower birth weight (mean, 3184.5 g; 95% CI, 3050

  17. Efficacy of prenatal diagnosis of major congenital heart disease on perinatal management and perioperative mortality: a meta-analysis.

    PubMed

    Li, Yi-Fei; Zhou, Kai-Yu; Fang, Jie; Wang, Chuan; Hua, Yi-Min; Mu, De-Zhi

    2016-08-01

    There is no consensus on the effectiveness of prenatal diagnosis except for hospitalized outcomes. Hence, a meta-analysis of published literature was conducted to assess the effect of prenatal diagnosis. Literature review has identified relevant studies up to December 2013. A meta-analysis was performed according to the guidelines from the Cochrane review group and the PRISMA statement. Studies were identified by searching PubMed, Embase, the Cochrane Central Register of Controlled Trials and World Health Orgnization clinical trials registry center. Meta-analysis was performed in a fixed/random-effect model using Revman 5.1.1 according to the guidelines from the Cochrane review group and the PRISMA guidelines. The results from 13 cohort studies in 12 articles were analyzed to determine the optimal treatment with the lower rate of perioperative mortality in prenatal diagnosis. The superiority of a prenatal diagnosis has been proven because the surgical procedure could be done in the early neonatal period (95% CI, -0.76, -0.40). The prenatal diagnosis has also remarkably reduced the preoperative and postoperative mortality rates in cases of transposition of the great arteries (95% CI=0.06, 0.80; 95% CI=0.01, 0.82, respectively), as well as the overall results with all subtypes (95% CI=0.18, 0.94; 95% CI=0.46, 0.94, respectively). Prenatal diagnosis is effective in perinatal management with an earlier intervention for major congenital heart disease, but only results in a reduced perioperative mortality in cases of transposition of the great arteries. Further investigations are required to evaluate the effect of prenatal diagnosis on life quality during a long-term follow-up.

  18. Prenatal sex hormone exposure and risk of Alzheimer disease: a pilot study using the 2D:4D digit length ratio.

    PubMed

    Vladeanu, Matei; Giuffrida, Orazio; Bourne, Victoria J

    2014-06-01

    Our aim was to investigate an association between prenatal sex hormone exposure and dementia diagnosis. Some evidence indicates that relatively low testosterone levels are a risk factor for men to develop Alzheimer disease (AD). Most research has examined current rather than premorbid testosterone levels, and little research has addressed testosterone and AD in women. In 20 men and women diagnosed with AD and 20 controls, we estimated prenatal exposure to testosterone and estrogen using the ratio of the length of the second to the fourth digit (2D:4D). We analyzed the data using a 2 (men versus women)×2 (controls versus AD participants) analysis of variance. The men with AD had significantly higher 2D:4D ratios than the male controls, indicating lower levels of prenatal testosterone and higher levels of prenatal estrogen exposure. The women with AD had significantly lower 2D:4D ratios than the female controls, indicating higher levels of prenatal testosterone and lower levels of prenatal estrogen exposure. These findings suggest that lower levels of prenatal testosterone and higher levels of estrogen exposure are a risk factor for AD in men, and that higher levels of prenatal testosterone and lower levels of prenatal estrogen exposure are a risk factor for women. Risk for AD may be related to prenatal exposure to a sex hormone different from an individual's chromosomal sex.

  19. Real-time three dimensional sonographic features of an early third trimester fetus with achondrogenesis.

    PubMed

    Wataganara, Tuangsit; Sutanthavibool, Anuwat; Limwongse, Chanin

    2006-10-01

    Generalized shortening of fetal long bones detected from prenatal sonographic examination usually raise a tentative diagnosis of skeletal dysplasia. Information obtained from grey-scale scan is frequently not sufficient to provide a definite diagnosis, and the images are not readily comprehensible for the parents-to-be. Lately, three-dimensional sonography has become increasing available in obstetric practice. The authors report here a rare case of fetal achondrogenesis, which is a lethal form of skeletal dysplasia, in a 30-week-old fetus using real-time three-dimensional ultrasound. The prenatal findings of fetal achondrogenesis from this technique were thoroughly described, along with postnatal radiography and autopsy results. Sonographic features from this imaging technique allow for an accurate diagnosis and better understanding of the parents. This facilitates the genetic counseling process, as well as the parental options for further care.

  20. Fetal Aortic Arch Anomalies: Key Sonographic Views for Their Differential Diagnosis and Clinical Implications Using the Cardiovascular System Sonographic Evaluation Protocol.

    PubMed

    Bravo, Coral; Gámez, Francisco; Pérez, Ricardo; Álvarez, Teresa; De León-Luis, Juan

    2016-02-01

    Aortic arch anomalies are present in 1% to 2% of the general population and are commonly associated with congenital heart disease, chromosomal defects, and tracheaesophageal compression in postnatal life. The sonographically based detection of aortic arch anomalies lies in the 3-vessel and trachea view. Although highly sensitive, this view alone does not allow identification of the aortic arch branching pattern, which prevents an accurate diagnosis. The systematic addition of a subclavian artery view as part of a standardized procedure may be useful in the differential diagnosis of these conditions. We describe the sonographic assessment of fetal aortic arch anomalies by combining 2 fetal transverse views: the 3-vessel and trachea view and the subclavian artery view, which are included in the cardiovascular system sonographic evaluation protocol. We also review the sonographic findings and the clinical implications of fetal aortic arch anomalies. © 2016 by the American Institute of Ultrasound in Medicine.

  1. [Prenatal sex-specific programming and chronic diseases or Finis Ab Orígine Pendet].

    PubMed

    Arck, P C; Hecher, K

    2014-09-01

    An increasing incidence of chronic immune diseases such as allergies, multiple sclerosis, and type 2 diabetes, as well as obesity and cardiovascular and psychiatric disorders has been reported over the last five decades. Since the human genome has not altered significantly over this period of time, gene-environment interactions are suspected to be responsible for these increased disease incidences. In this context, the prenatal period is believed to significantly contribute to altered disease susceptibilities, which could be associated with environmental factors to which pregnant women were exposed to. This observation has led to a concept entitled 'developmental origin of health and disease', a topic that is enjoying much attention in clinical and basic science research. The aim of these research endeavors is to postulate guidelines for primary disease prevention. Whilst the emerging insights from this field of research provide significant pieces of the puzzle, one area is still largely neglected: the clear identification of a sex-specific programming effect. Thus it is essential that such an approach becomes fully integrated in future research goals.

  2. Impact of Prenatal Risk Factors on Congenital Heart Disease in the Current Era

    PubMed Central

    Fung, Alan; Manlhiot, Cedric; Naik, Sapna; Rosenberg, Herschel; Smythe, John; Lougheed, Jane; Mondal, Tapas; Chitayat, David; McCrindle, Brian W.; Mital, Seema

    2013-01-01

    Background The healthcare burden related to congenital heart disease (CHD) is increasing with improving survival. We assessed changing trends in prenatal risk factors for CHD in the current era in a Canadian cohort. Methods and Results CHD patients <18 years old (n=2339) and controls without structural heart disease (n=199) were prospectively enrolled in an Ontario province‐wide biobank registry from 2008–2011. Family history, frequency of extra‐cardiac anomalies (ECAs), and antenatal risk factors were assessed. Temporal trends were analyzed and associations with CHD were measured using linear and logistic regression. Family history of CHD and frequency of major ECAs was higher in cases versus controls (P<0.001). Despite an increase in genetic testing in the recent era, only 9.5% of cases with CHD had a confirmed genetic diagnosis. Yield of genetic testing (ie, frequency of abnormal results) was higher in familial and syndromic cases. There was an increase in parental age at conception, maternal prepregnancy body mass index, maternal urinary tract infections, type 1 diabetes, and exposure to nonfertility medications during pregnancy from 1990–2011. Later year of birth, family history of CHD, presence of major ECAs, maternal smoking during pregnancy, and maternal medication exposure were associated with increased odds of CHD (P<0.05 for all). Advanced parental age was associated with increased odds of CHD caused by genetic abnormalities. Conclusions The increase in prenatal risk factors for CHD highlights the need for more rigorous ascertainment of genetic and environmental factors including gene‐environment interactions that contribute to CHD. PMID:23727699

  3. Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.

    PubMed

    Fu, Fang; Liu, Huan-ling; Li, Ru; Han, Jin; Yang, Xin; Min, Pan; Zhen, Li; Zhang, Yong-ling; Xie, Gui-e; Lei, Ting-ying; Li, Yan; Li, Jian; Li, Dong-zhi; Liao, Can

    2014-08-10

    MECP2 duplication results in a well-recognised syndrome in 100% of affected male children; this syndrome is characterised by severe neurodevelopmental disabilities and recurrent infections. However, no sonographic findings have been reported for affected foetuses, and prenatal molecular diagnosis has not been possible for this disease due to lack of prenatal clinical presentation. In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with severe X-linked mental retardation and in a prenatal foetus with brain structural abnormalities. Using high-resolution chromosome microarray analysis (CMA) to screen 108 foetuses with congenital structural abnormalities, we identified additional three foetuses with the MECP2 duplication. Our study indicates that ventriculomegaly, hydrocephalus, agenesis of the corpus callosum, choroid plexus cysts, foetal growth restriction and hydronephrosis might be common ultrasound findings in prenatal foetuses with the MECP2 duplication and provides the first set of prenatal cases with MECP2 duplication, the ultrasonographic phenotype described in these patients will help to recognise the foetuses with possible MECP2 duplication and prompt the appropriate molecular testing. Copyright © 2014 Elsevier B.V. All rights reserved.

  4. Sonographic anatomy of the gastrohepatic ligament.

    PubMed

    Desai, Gaurav; Filly, Roy A

    2010-01-01

    The purpose of this presentation is to illustrate anatomic and pathologic features of the gastrohepatic ligament (GHL) and to show its usefulness for precise localization of abnormalities, particularly in relation to the lesser peritoneal cavity and diseases occurring within the confines of the ligament itself. Cases were selected that illustrate the objectives above. Illustrations show various anatomic and pathologic features meant to enhance interpretation of left upper quadrant sonograms. Illustrations seen in the sonographic literature vaguely interpret the relationships of the GHL. Misunderstanding has led not only to improper nomenclature but also to the use of inappropriate indicators of lesser omental diseases. With a clear understanding of the anatomy of the GHL and its use as a pivotal marker for structures around and within it, one can avoid these pitfalls and better evaluate adult and pediatric lesser omental anatomy.

  5. Sonographic evaluation of hindfoot disorders.

    PubMed

    Hoffman, Douglas F; Grothe, Heather L; Bianchi, Stefano

    2014-06-01

    Foot pain is a common orthopedic condition that can have an impact on health-related quality of life. The evaluation of plantar hindfoot pain begins with history and physical examination. Imaging modalities, standard radiographs, sonography, MR, CT are often utilized to clarify the diagnosis. The article is a detailed description of the sonographic evaluation of the plantar fascia and its disorders as well as the common etiologies in the differential diagnosis of plantar fasciopathy.

  6. Postnatal and prenatal diagnosis of lysosomal storage diseases in the former Soviet Union.

    PubMed

    Krasnopolskaya, X D; Mirenburg, T V; Akhunov, V S; Voskoboeva, E Y

    1997-02-14

    Diagnosis and prevention of lysosomal storage diseases (LSD) in the former Soviet Union (FSU) is based on the interaction of various local counselling units with the Department of Inherited Metabolic Diseases (DIMD) at the Research Center of Medical Genetics (RAMS). Work began in 1982 using standard, as well as newly developed biochemical techniques. 25 different LSD were diagnosed in 445 patients from 404 families. 106 pregnancies in families at risk were monitored prenatally, and 25 affected fetuses were diagnosed and aborted. The clinical spectrum of diagnosed lysosomal storage diseases (LSD) was surprisingly heterogeneous. Besides classical forms of LSD numerous atypical forms were discovered. They included juvenile and adult forms of some sphingolipidoses manifesting as progressive dystonia, spinocerebellar degeneration and hebephrenic schizophrenia, as well as an atypical form of mucolipidosis III in which the clinical phenotype bore an obvious resemblance to that of mucopolysaccharidosis (MPS) VI. The incidence of MPS was much higher than that of other LSD. It was evaluated as 1:15000 for two regions of the FSU. This investigation revealed some peculiarities of the ethnic distribution of MPS in populations of the FSU and supported the high prevalence of the gene for Tay-Sachs disease gene in Ashkenazi Jews.

  7. Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.

    PubMed

    Audrézet, Marie-Pierre; Corbiere, Christine; Lebbah, Said; Morinière, Vincent; Broux, Françoise; Louillet, Ferielle; Fischbach, Michel; Zaloszyc, Ariane; Cloarec, Sylvie; Merieau, Elodie; Baudouin, Véronique; Deschênes, Georges; Roussey, Gwenaelle; Maestri, Sandrine; Visconti, Chiara; Boyer, Olivia; Abel, Carine; Lahoche, Annie; Randrianaivo, Hanitra; Bessenay, Lucie; Mekahli, Djalila; Ouertani, Ines; Decramer, Stéphane; Ryckenwaert, Amélie; Cornec-Le Gall, Emilie; Salomon, Rémi; Ferec, Claude; Heidet, Laurence

    2016-03-01

    Prenatal forms of autosomal dominant polycystic kidney disease (ADPKD) are rare but can be recurrent in some families, suggesting a common genetic modifying background. Few patients have been reported carrying, in addition to the familial mutation, variation(s) in polycystic kidney disease 1 (PKD1) or HNF1 homeobox B (HNF1B), inherited from the unaffected parent, or biallelic polycystic kidney and hepatic disease 1 (PKHD1) mutations. To assess the frequency of additional variations in PKD1, PKD2, HNF1B, and PKHD1 associated with the familial PKD mutation in early ADPKD, these four genes were screened in 42 patients with early ADPKD in 41 families. Two patients were associated with de novo PKD1 mutations. Forty patients occurred in 39 families with known ADPKD and were associated with PKD1 mutation in 36 families and with PKD2 mutation in two families (no mutation identified in one family). Additional PKD variation(s) (inherited from the unaffected parent when tested) were identified in 15 of 42 patients (37.2%), whereas these variations were observed in 25 of 174 (14.4%, P=0.001) patients with adult ADPKD. No HNF1B variations or PKHD1 biallelic mutations were identified. These results suggest that, at least in some patients, the severity of the cystic disease is inversely correlated with the level of polycystin 1 function.

  8. Prenatal management of disorders of sex development.

    PubMed

    Chitty, Lyn S; Chatelain, Pierre; Wolffenbuttel, Katja P; Aigrain, Yves

    2012-12-01

    Disorders of sex development (DSD) rarely present prenatally but, as they are very complex conditions, management should be directed by highly specialised medical teams to allow consideration of all aspects of diagnosis, treatment and ethical issues. In this brief review, we present an overview of the prenatal presentation and management of DSD, including the sonographic appearance of normal genitalia and methods of determining genetic sex, the prenatal management of pregnancies with the unexpected finding of genital ambiguity on prenatal ultrasound and a review of the prenatal management of pregnancies at high risk of DSD. As this is a rapidly developing field, management options will change over time, making the involvement of clinical geneticists, paediatric endocrinologists and urologists, as well as fetal medicine specialists, essential in the care of these complex pregnancies. The reader should also bear in mind that local social, ethical and legal aspects may also influence management.

  9. The Impact of Prenatal Diagnosis of Complex Congenital Heart Disease on Neonatal Outcomes

    PubMed Central

    Glickstein, Julie S.; Kleinman, Charles S.; Levasseur, Stephanie M.; Chen, Jonathan; Gersony, Welton M.; Williams, Ismee A.

    2010-01-01

    Prenatal diagnosis of congenital heart disease (CHD) is increasingly common. However, the current impact of prenatal diagnosis on neonatal outcomes is unclear. Between January 2004 and January 2008, a retrospective chart review of infants who underwent surgical repair of CHD before discharge at our institution was conducted. Obstetric and perioperative variables were recorded. Of 439 neonates, 294 (67%) were diagnosed prenatally (PREdx). Infants with PREdx had a lower mean birth weight (3.0 ± 0.6 vs. 3.1 ± 0.6 kg, p = 0.002) and gestational age (37.9 ± 2.1 vs. 38.6 ± 2.4 wk, p < 0.001) than those with postnatal diagnosis (POSTdx). Severe lesions were more likely to be PREdx: Neonates with single-ventricle (SV) physiology (n = 130 patients [31.2%]) had increased odds of PREdx (n = 113/130, odds ratio [OR] 4.7; 95% confidence interval [CI] 2.7–8.2, p < 0.001). PREdx was associated with decreased preoperative intubation (OR 0.62; 95% CI 0.42–0.95, p = 0.033), administration of antibiotics (OR 0.23; 95% CI 0.15–0.36, p < 0.001), cardiac catheterization (OR 0.54; 95% CI 0.34–0.85, p = 0.01), and emergency surgery (OR 0.18; 95% CI 0.06–0.5, p < 0.001) compared with POSTdx infants. There was no difference in APGAR scores, preoperative pH, day of life of surgery, operative complications, hospital length of stay, or overall mortality in the PREdx versus POSTdx groups, even when controlling for lesion severity. PREdx was not independently associated with neonatal mortality, despite having included more severe cardiac lesions. PREdx was significantly associated with decreased neonatal morbidity in terms of decreased use of preoperative ventilator, administration of antibiotics, cardiac catheterization, and emergency surgery. PMID:20165844

  10. Prenatal exposure to arsenic and cadmium impacts infectious disease-related genes within the glucocorticoid receptor signal transduction pathway.

    PubMed

    Rager, Julia E; Yosim, Andrew; Fry, Rebecca C

    2014-12-03

    There is increasing evidence that environmental agents mediate susceptibility to infectious disease. Studies support the impact of prenatal/early life exposure to the environmental metals inorganic arsenic (iAs) and cadmium (Cd) on increased risk for susceptibility to infection. The specific biological mechanisms that underlie such exposure-mediated effects remain understudied. This research aimed to identify key genes/signal transduction pathways that associate prenatal exposure to these toxic metals with changes in infectious disease susceptibility using a Comparative Genomic Enrichment Method (CGEM). Using CGEM an infectious disease gene (IDG) database was developed comprising 1085 genes with known roles in viral, bacterial, and parasitic disease pathways. Subsequently, datasets collected from human pregnancy cohorts exposed to iAs or Cd were examined in relationship to the IDGs, specifically focusing on data representing epigenetic modifications (5-methyl cytosine), genomic perturbations (mRNA expression), and proteomic shifts (protein expression). A set of 82 infection and exposure-related genes was identified and found to be enriched for their role in the glucocorticoid receptor signal transduction pathway. Given their common identification across numerous human cohorts and their known toxicological role in disease, the identified genes within the glucocorticoid signal transduction pathway may underlie altered infectious disease susceptibility associated with prenatal exposures to the toxic metals iAs and Cd in humans.

  11. Prenatal Exposure to Arsenic and Cadmium Impacts Infectious Disease-Related Genes within the Glucocorticoid Receptor Signal Transduction Pathway

    PubMed Central

    Rager, Julia E.; Yosim, Andrew; Fry, Rebecca C.

    2014-01-01

    There is increasing evidence that environmental agents mediate susceptibility to infectious disease. Studies support the impact of prenatal/early life exposure to the environmental metals inorganic arsenic (iAs) and cadmium (Cd) on increased risk for susceptibility to infection. The specific biological mechanisms that underlie such exposure-mediated effects remain understudied. This research aimed to identify key genes/signal transduction pathways that associate prenatal exposure to these toxic metals with changes in infectious disease susceptibility using a Comparative Genomic Enrichment Method (CGEM). Using CGEM an infectious disease gene (IDG) database was developed comprising 1085 genes with known roles in viral, bacterial, and parasitic disease pathways. Subsequently, datasets collected from human pregnancy cohorts exposed to iAs or Cd were examined in relationship to the IDGs, specifically focusing on data representing epigenetic modifications (5-methyl cytosine), genomic perturbations (mRNA expression), and proteomic shifts (protein expression). A set of 82 infection and exposure-related genes was identified and found to be enriched for their role in the glucocorticoid receptor signal transduction pathway. Given their common identification across numerous human cohorts and their known toxicological role in disease, the identified genes within the glucocorticoid signal transduction pathway may underlie altered infectious disease susceptibility associated with prenatal exposures to the toxic metals iAs and Cd in humans. PMID:25479081

  12. Cognitive development of Yu-Cheng ("oil disease") children prenatally exposed to heat-degraded PCBs.

    PubMed

    Chen, Y C; Guo, Y L; Hsu, C C; Rogan, W J

    1992-12-09

    To compare the cognitive development in Taiwanese children who had been exposed prenatally to high levels of heat-degraded polychlorinated biphenyls (PCBs) with control children who were exposed to background levels. The disorder was called Yu-Cheng, "oil disease," in Taiwan. Matched-pair cohort study. Communities in central Taiwan in which there had been a cooking-oil contamination and mass poisoning by heat-degraded PCBs in 1978 through 1979. One hundred eighteen children born between June 1978 and March 1985 during or after their mothers' consumption of contaminated rice oil; 118 children matched for age, sex, neighborhood, maternal age, and parental education and occupational class; and 15 older siblings of exposed children, born before the poisoning. Cognitive development measured from 1985 through 1990 using the Chinese versions of the Stanford-Binet test and the Wechsler Intelligence Scale for Children, Revised, The exposed children scored approximately 5 points lower on the Stanford-Binet test at the ages of 4 and 5 years and approximately 5 points lower on the Wechsler Intelligence Scale for Children, Revised, at the ages of 6 and 7 years. Children born up to 6 years after their mothers' exposure were as affected as children born within a year or two after exposure when examined at 6 and 7 years of age. Older siblings resembled the control children. Children prenatally exposed to heat-degraded PCBs had poorer cognitive development than their matched controls. The effect persisted in the children up to the age of 7 years, and children born long after the exposure were still affected.

  13. Effects of prenatal exposure to the Dutch famine on adult disease in later life: an overview.

    PubMed

    Roseboom, T J; van der Meulen, J H; Ravelli, A C; Osmond, C; Barker, D J; Bleker, O P

    2001-12-20

    Chronic diseases are the main public health problem in Western countries. There are indications that these diseases originate in the womb. It is thought that undernutrition of the fetus during critical periods of development would lead to adaptations in the structure and physiology of the fetal body, and thereby increase the risk of diseases in later life. The Dutch famine--though a historical disaster--provides a unique opportunity to study effects of undernutrition during gestation in humans. This thesis describes the effects of prenatal exposure to the Dutch famine on health in later life. We found indications that undernutrition during gestation affects health in later life. The effects on undernutrition, however, depend upon its timing during gestation and the organs and systems developing during that critical time window. Furthermore, our findings suggest that maternal malnutrition during gestation may permanently affect adult health without affecting the size of the baby at birth. This may imply that adaptations that enable the fetus to continue to grow may nevertheless have adverse consequences of improved nutrition of pregnant women will be underestimated if these are solely based on the size of the baby at birth. Little is known about what an adequate diet for pregnant women might be. In general, women are especially receptive to advice about diet and lifestyle before and during a pregnancy. This should be exploited to improve the health of future generations.

  14. Prenatal diagnosis of Meckel-Gruber syndrome case reports.

    PubMed

    Su, S L; Liu, C M; Lee, J N

    1995-02-01

    Two cases of Meckel-Gruber syndrome are presented. In the first case, abdominal tumor and decreased amniotic fluid were initially suspected. In the second case, Omphalocele was diagnosed by local practitioners. Thorough obstetric sonographic studies revealed encephalocele, bilateral renal cystic dysplasia, polydactyly, microcephalus, intrauterine growth retardation (IUGR) and oligohydramnios. Chromosomal analysis by percutaneous umbilical cord blood sampling (PUBS) was normal with 46,XY in Case 1 and 46,XX in Case 2. The prenatal diagnoses were confirmed by autopsy. The pathologic reports revealed type I polycystic kidney, bile duct proliferation, fibrosis of the portal area, encephalocele and polydactyly. It is interesting to note that the two cases came from two different families without any family history of inherited disease.

  15. Validity of self-reported varicella disease history in pregnant women attending prenatal clinics.

    PubMed

    Watson, Barbara; Civen, Rachel; Reynolds, Meredith; Heath, Karl; Perella, Dana; Carbajal, Tina; Mascola, Laurene; Jumaan, Aisha; Zimmerman, Laura; James, Abike; Quashi, Carlene; Schmid, Scott

    2007-01-01

    The purpose of this study was to assess the validity of self-reported history for varicella disease relative to serological evidence of varicella immunity in pregnant women attending antenatal care at clinics located in two diverse geographical locations in the U.S. (Antelope Valley, California, and Philadelphia) with high varicella vaccination coverage. Pregnant women attending prenatal care appointments who needed blood drawn as part of their routine care were eligible to participate. Self-reported varicella disease history was obtained via questionnaire. Varicella serostatus was determined using a whole-cell enzyme-linked immunosorbent assay to test for varicella zoster virus-specific immunoglobulin G (VZV IgG) antibodies. Of the 309 study participants from Antelope Valley and the 528 participants from Philadelphia who self-reported having had chickenpox disease, 308 (99.7%; 95% confidence interval [CI]: 98.2, 100) and 517 (97.9%; 95% CI: 96.3, 99.0), respectively, had serological evidence of immunity to varicella. Only 6.8% (95% CI: 3.9, 11.0) and 17.4% (95% CI: 13.1, 22.5) of women who self-reported having a negative or uncertain varicella disease history in Antelope Valley and Philadelphia, respectively, were seronegative for varicella antibodies. Despite the dramatic changes in the epidemiology of varicella that have occurred since 1995 due to the introduction and subsequent widespread use of the varicella vaccine, self-reported history of varicella continues to be a strong predictor of VZV IgG antibodies in pregnant women. Negative or uncertain history remains poorly predictive of negative serostatus.

  16. Lithium nephropathy: unique sonographic findings.

    PubMed

    Di Salvo, Donald N; Park, Joseph; Laing, Faye C

    2012-04-01

    This case series describes a unique sonographic appearance consisting of numerous microcysts and punctate echogenic foci seen on renal sonograms of 10 adult patients receiving chronic lithium therapy. Clinically, chronic renal insufficiency was present in 6 and nephrogenic diabetes insipidus in 2. Sonography showed numerous microcysts and punctate echogenic foci. Computed tomography in 5 patients confirmed microcysts and microcalcifications, which were fewer in number than on sonography. Magnetic resonance imaging in 2 patients confirmed microcysts in each case. Renal biopsy in 1 patient showed chronic interstitial nephritis, microcysts, and tubular dilatation. The diagnosis of lithium nephropathy should be considered when sonography shows these findings.

  17. Cysticercosis of the masseter: MRI and sonographic correlation

    PubMed Central

    Nagarjuna, M; Belaval, V; Shetty, S; Salins, P C

    2015-01-01

    Cysticercal involvement of the masseter is an uncommon manifestation of a relatively common parasitic infestation. Sonographic evaluation of many isolated cases of cysticercosis has been extensively described. However, there are scanty reports on MRI appearance of cysticercal involvement of the masseter. This report presents classical imaging appearance of cysticercal involvement of the masseter on sonography and MRI. The pattern of the disease and MRI appearance of lesions in the masseter, highlighting the role of diffusion-weighted images, are described. PMID:25734242

  18. Cysticercosis of the masseter: MRI and sonographic correlation.

    PubMed

    Bhat, V; Nagarjuna, M; Belaval, V; Shetty, S; Salins, P C

    2015-01-01

    Cysticercal involvement of the masseter is an uncommon manifestation of a relatively common parasitic infestation. Sonographic evaluation of many isolated cases of cysticercosis has been extensively described. However, there are scanty reports on MRI appearance of cysticercal involvement of the masseter. This report presents classical imaging appearance of cysticercal involvement of the masseter on sonography and MRI. The pattern of the disease and MRI appearance of lesions in the masseter, highlighting the role of diffusion-weighted images, are described.

  19. Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands.

    PubMed

    van Rij, M C; de Die-Smulders, C E M; Bijlsma, E K; de Wert, G M W R; Geraedts, J P; Roos, R A C; Tibben, A

    2013-02-01

    Individuals at 50% risk of Huntington's disease (HD) who prefer not to know their carrier status, might opt for exclusion prenatal diagnosis (ePND) or exclusion preimplantation genetic diagnosis (ePGD). This study aims to provide a better understanding of couples' motives for choosing ePND or ePND, and surveys couples' experiences in order to make recommendations for the improvement of counselling for exclusion testing. This qualitative retrospective interview study focussed on couples who underwent ePND or ePGD for HD in the period 1996-2010. Seventeen couples were included of which 13 had experienced ePND and 6 ePGD. Mean time-interval since exclusion-testing was 3.9 years. Couples' moral reservations regarding termination of pregnancy (TOP) or discarding healthy embryos were counterbalanced by the wish to protect their future child against HD. Seven couples had terminated a total of 11 pregnancies with a 50% HD risk, none showed regret. ePGD was used by couples who wanted to avoid (another) TOP. ePND and ePGD are acceptable reproductive options for a specific group of counsellees. To guarantee sound standards of care, it is imperative that candidate couples be given in-depth non-directive counselling about all possible scenarios, and adequate professional and psychological support prior to, during and after ePND/ePGD.

  20. Prenatal testing for hemolytic disease of the newborn and fetal neonatal alloimmune thrombocytopenia - current status.

    PubMed

    Avent, Neil D

    2014-12-01

    Incompatibility of red cell and platelet antigens can lead to maternal alloimmunization causing hemolytic disease of the fetus & newborn and fetal neonatal alloimmune thrombocytopenia respectively. As the molecular background of these polymorphisms emerged, prenatal testing using initially fetal DNA obtained from invasively obtained amniotic fluid or chorionic villus was implemented. This evolved into testing using maternal plasma as source of fetal DNA, and this is in routine use as a safe non-invasive diagnostic that has no risk to the fetus of alloimmunization or spontaneous miscarriage. These tests were initially applied to high risk pregnancies, but has been applied on a mass scale, to screen fetuses in D-negative pregnant populations as national screening programs. Fetal neonatal alloimmune thrombocytopenia management has had comparatively small take up in non-invasive testing for causative fetal platelet alleles (e.g., HPA-1A), but mass scale genotyping of mothers to identify at risk HPA-1b1b pregnancies and their treatment with prophylactic anti-HPA-1A is being considered in at least one country (Norway).

  1. Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR

    PubMed Central

    Chang, Mun Young; Kim, Ah Reum; Kim, Min Young; Kim, Soyoung; Yoon, Jinsun; Han, Jae Joon; Ahn, Soyeon; Kang, Changsoo; Choi, Byung Yoon

    2016-01-01

    We developed a protocol of noninvasive prenatal testing (NIPT), employing a higher-resolution picodroplet digital PCR, to detect genetic imbalance in maternal plasma DNA (mpDNA) caused by cell-free fetal DNA (cffDNA). In the present study, this approach was applied to four families with autosomal recessive (AR) congenital sensorineural hearing loss. First, a fraction of the fetal DNA in mpDNA was calculated. Then, we made artificial DNA mixtures (positive and negative controls) to simulate mpDNA containing the fraction of cffDNA with or without mutations. Next, a fraction of mutant cluster signals over the total signals was measured from mpDNA, positive controls, and negative controls. We determined whether fetal DNA carried any paternal or maternal mutations by calculating and comparing the sum of the log-likelihood of the study samples. Of the four families, we made a successful prediction of the complete fetal genotype in two cases where a distinct cluster was identified for each genotype and the fraction of cffDNA in mpDNA was at least 6.4%. Genotyping of only paternal mutation was possible in one of the other two families. This is the first NIPT protocol potentially applicable to any AR monogenic disease with various genotypes, including point mutations. PMID:27924908

  2. The cost-effectiveness of prenatal detection for congenital heart disease using telemedicine screening.

    PubMed

    Mistry, Hema; Gardiner, Helena M

    2013-06-01

    We estimated the longer-term cost-effectiveness of using telemedicine screening for prenatal detection of congenital heart disease (CHD). One hospital in south-east England with a telemedicine service was connected to a fetal cardiology unit in London. A UK health service perspective was adopted. Evidence on costs and outcomes for standard-risk pregnant women during the antenatal period was based on patient-level data. Extrapolation beyond the end of the study (just after delivery) was carried out for the lifetime of children born with and without CHD. Expert opinion and data from published sources was used to populate a decision model. Future costs and benefits were discounted. The main outcome was quality-adjusted life years (QALYs) and results were expressed as cost per QALY gained. Various one-way sensitivity analyses were conducted. The model showed that offering telemedicine screening by specialists to all standard-risk pregnant women was the dominant strategy (i.e. cheaper and more effective). The sensitivity analyses found that the model was robust, and that telemedicine remained the most cost-effective strategy. The study showed that it would be cost-effective to provide telemedicine examinations as part of an antenatal screening programme for all standard-risk women.

  3. Prenatal diagnosis of critical congenital heart disease reduces risk of death from cardiovascular compromise prior to planned neonatal cardiac surgery: a meta-analysis.

    PubMed

    Holland, B J; Myers, J A; Woods, C R

    2015-06-01

    To determine if prenatal diagnosis improves the chance that a newborn with critical congenital heart disease will survive to undergo planned cardiac surgery. A systematic review of the medical literature identified eight studies which met the following criteria: compared outcomes between newborns with prenatal and those with postnatal diagnosis of critical congenital heart disease; compared groups of patients with the same anatomical diagnosis; provided detailed information on cardiac anatomy; included detailed information on preoperative cause of death. A meta-analysis was performed to assess differences in preoperative mortality rates between newborns with prenatal diagnosis and those with postnatal diagnosis. Patients with established risk factors for increased mortality (high risk) and those whose families chose comfort care rather than cardiac surgery were excluded. In patients with comparable anatomy, standard risk, a parental desire to treat and optimal care, newborns with a prenatal diagnosis of critical congenital heart disease were significantly less likely to die prior to planned cardiac surgery than were those with a comparable postnatal diagnosis (pooled odds ratio, 0.26; 95% CI, 0.08-0.84). For newborns most likely to benefit from treatment for their critical congenital heart disease, because they did not have additional risk factors and their families pursued treatment, prenatal diagnosis reduced the risk of death prior to planned cardiac surgery relative to patients with a comparable postnatal diagnosis. Further study and efforts to improve prenatal diagnosis of congenital heart disease should therefore be considered. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

  4. Ectopic Intrathyroidal Thymus in Childhood: A Sonographic Finding Leading to Misdiagnosis.

    PubMed

    Vlachopapadopoulou, Elpis-Athina; Vakaki, Marina; Karachaliou, Fotini-Eleni; Kaloumenou, Irene; Kalogerakou, Kleanthi; Gali, Christina; Michalacos, Stefanos

    2016-01-01

    During gestation, the primordial thymus migrates from the pharynx to the anterior mediastinum, thus thymic tissue can remain at any point along this path. Intrathyroidal thymic remnants are rare, and their sonographic patterns have only recently been described. This retrospective study presents the sonographic appearance of ectopic intrathyroidal thymus and emphasizes the role of sonography in order to avoid misdiagnosis. The population consisted of 42 children, 3.5-14 years old, who had a thyroid sonogram performed due to a positive family history or symptoms indicative of thyroid disease, and ectopic intrathyroidal thymus was recognized. In all patients, the same pattern was revealed: a fusiform intrathyroidal lesion, with no mass effect, homogeneously hypoechoic, with diffuse bright internal echoes. The similarity to the characteristic sonographic pattern of the normal mediastinal thymus was crucial for the diagnosis of ectopic intrathyroidal thymic tissue. In 8 cases, a normal elongated thymus was found connected to the thyroid with an accessory lobe embedded in the lower thyroid pole. The above sonographic appearances mimicked a thyroid nodule. Awareness of the sonographic patterns of the ectopic intrathyroidal thymus is mandatory to avoid misdiagnosis. In most cases, further investigation is unnecessary, but sonographic follow-up should be recommended. © 2016 S. Karger AG, Basel.

  5. Relation of prenatal diagnosis with one-year survival rate for infants with congenital heart disease.

    PubMed

    Wright, Lydia K; Ehrlich, Alexandra; Stauffer, Nanci; Samai, Cyrus; Kogon, Brian; Oster, Matthew E

    2014-03-15

    Prenatal diagnosis of congenital heart defects (CHDs) is increasingly common, but it is still unclear whether it translates to improved postoperative outcomes. We performed a retrospective cohort study of all infants (aged <1 year) who underwent surgery for CHDs from 2006 to 2011 at a single institution. Primary outcomes were in-hospital and 1-year mortality rates. Secondary outcomes were readmission within 30 days of discharge, postoperative length of intensive care unit and hospital stay, unplanned reoperation, and extracorporeal membrane oxygenation use. We used chi-square analyses, Wilcoxon rank-sum tests, Kaplan-Meier survival curves, and adjusted Cox proportional hazards models to compare outcomes. Of the 1,642 patients with CHDs, 539 (33%) were diagnosed prenatally. Patients with prenatal diagnoses were of a younger age and less weight at the time of surgery, had greater Risk Adjustment for Congenital Heart Surgery scores, and were more likely to be white, to have an identified syndrome, or to be born at term. Compared with those diagnosed postnatally, those diagnosed prenatally had a significantly higher unadjusted 1-year mortality rate (11% vs 5.5%, respectively, p = 0.03). Controlling for weight, surgical severity, race, age at surgery, prematurity, and the presence or absence of genetic syndrome, patients with prenatal diagnoses had significantly greater mortality at 1 year (adjusted hazard ratio 1.5, p = 0.03), as well as significantly longer intensive care unit and hospital stays. Infants with CHDs diagnosed prenatally had worse outcomes compared with those diagnosed postnatally. Prenatal diagnosis likely captures patients with more severe phenotypes within given surgical risk categories and even within diagnoses and thus may be an important prognostic factor when counseling families.

  6. Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000.

    PubMed

    Creighton, S; Almqvist, E W; MacGregor, D; Fernandez, B; Hogg, H; Beis, J; Welch, J P; Riddell, C; Lokkesmoe, R; Khalifa, M; MacKenzie, J; Sajoo, A; Farrell, S; Robert, F; Shugar, A; Summers, A; Meschino, W; Allingham-Hawkins, D; Chiu, T; Hunter, A; Allanson, J; Hare, H; Schween, J; Collins, L; Sanders, S; Greenberg, C; Cardwell, S; Lemire, E; MacLeod, P; Hayden, M R

    2003-06-01

    Predictive and pre-natal testing for Huntington's Disease (HD) has been available since 1987. Initially this was offered by linkage analysis, which was surpassed by the advent of the direct mutation test for HD in 1993. Direct mutation analysis provided an accurate test that not only enhanced predictive and pre-natal testing, but also permitted the diagnostic testing of symptomatic individuals. The objective of this study was to investigate the uptake, utilization, and outcome of predictive, pre-natal and diagnostic testing in Canada from 1987 to April 1, 2000. A retrospective design was used; all Canadian medical genetics centres and their affiliated laboratories offering genetic testing for HD were invited to participate. A total of 15 of 22 centres (68.2%), currently offering or ever having offered genetic testing for HD, responded, providing data on test results, demographics, and clinical history. A total of 1061 predictive tests, 15 pre-natal tests, and 626 diagnostic tests were performed. The uptake for predictive testing was approximately 18% of the estimated at-risk Canadian population, ranging from 12.5% in the Maritimes to 20.7% in British Columbia. There appears to have been a decline in the rate of testing in recent years. Of the predictive tests, 45.0% of individuals were found to have an increased risk, and a preponderance of females (60.2%) sought testing. A greater proportion of those at < or = 25% risk sought predictive testing once direct CAG mutation analysis had become available (10.9% after mutation analysis vs 4.7% before mutation analysis, p = 0.0077). Very few pre-natal tests were requested. Of the 15 pre-natal tests, 12 had an increased risk, resulting in termination of pregnancy in all but one. Diagnostic testing identified 68.5% of individuals to be positive by mutation analysis, while 31.5% of those with HD-like symptoms were not found to have the HD mutation. The positive diagnostic tests included 24.5% of individuals with no known

  7. Toynbee revisited: eustachian tubal sonograph.

    PubMed

    Wilson, H L

    1982-01-01

    The ETS represents a modern version of the Toynbee tube. The ETS replaces the tube with sophisticated electronic equipment that amplifies and records the sounds of air entering the middle ear. The results of the test correlate well with the clinical behavior of the eustachian tube. The ETS does this by permitting the auditory tube to function in its normal state. It requires minimal patient response and does not require a soundproof room. It allows performance of the Toynbee, Politzer, and Valsalva maneuvers with the equipment in place and does not interfere with catheterization of the tubal orifice. Medications may be applied to the nose and nasopharynx or be given parenterally while the sonograph is in place. Thus far, it appears that the ETS is very useful in evaluating dysfunction of the eustachian tube.

  8. Sonographic diagnosis of biliary ascariasis.

    PubMed

    Schulman, A; Loxton, A J; Heydenrych, J J; Abdurahman, K E

    1982-09-01

    In a prospective 6 month study, sonographic diagnosis of biliary ascariasis was made in 12 patients: In five, the diagnosis was confirmed by other means, mainly intravenous cholangiography. In three, such confirmation was not sought, but all had proven intestinal infestation. One possible and three definite false-positive diagnoses were made. There were no established false-negative diagnoses. The echogenic, nonshadowing images of the worms were seen in the main bile duct and/or gallbladder as single strips (on one occasion with its digestive tract seen as an anechoic "inner tube"), as multiple strips giving a spaghettilike appearance, as coils, or as more amorphous fragments. Follow-up sonograms were obtained in six patients and showed expulsion of the worms by medical treatment.

  9. Prenatal diagnosis of congenital heart diseases by fetal echocardiography in second trimester: a Chinese multicenter study.

    PubMed

    Chu, Chen; Yan, Yingliu; Ren, Yunyun; Li, Xiaotian; Gui, Yonghao

    2017-04-01

    The objective of our study was to evaluate the performance of detailed fetal echocardiography by skilled obstetric physician sonologists in the diagnosis of congenital heart disease (CHD) in a Chinese population. This investigation included a multicenter prospective cohort of 10 259 pregnant women attending 10 regional tertiary hospitals in China. The inclusion criteria were singleton pregnancy and gestational age from 18 to ≤28 weeks. Women with multiple pregnancies were excluded. A detailed fetal echocardiography was performed by trained physicians with at least 3 years of experience. The primary outcome measures included sensitivity, specificity, and positive and negative likelihood ratios of detailed fetal echocardiography in prenatal detection of CHD. The sensitivity and specificity of fetal echocardiography in detecting any CHD were 33.9 and 99.8%, respectively, in the low-risk population, and 68.8 and 99.4%, respectively, in the high-risk population. For detecting major CHDs, fetal echocardiography had a high sensitivity and specificity, and satisfactory positive and negative likelihood ratios in both the low-risk population (88.2, 100%, 6947.7, and 0.118, respectively) and high-risk population (100, 99.9%, 833.3, and <0.0001, respectively). The sensitivity and likelihood ratios were substantially lower for detecting minor CHDs in both populations. Detailed fetal echocardiography performed by skilled physicians had high detection rate for major CHD in both low-risk and high-risk populations. However, its value for detecting minor CHD was limited. The incorporation of fetal echocardiography with multiple cardiac views into routine ultrasound screening may improve the detection rate of fetal major CHD and facilitate appropriate parental counseling. © 2016 Nordic Federation of Societies of Obstetrics and Gynecology.

  10. Client views and attitudes to non-invasive prenatal diagnosis for sickle cell disease, thalassaemia and cystic fibrosis.

    PubMed

    Hill, Melissa; Compton, Cecilia; Karunaratna, Madhavi; Lewis, Celine; Chitty, Lyn

    2014-12-01

    In the near future the availability of non-invasive prenatal diagnosis (NIPD) for single gene disorders will change the prenatal diagnosis options available to couples who are carriers of conditions such as cystic fibrosis, sickle cell disorder and thalassaemia. Client opinions about NIPD are needed to inform the implementation of NIPD for single gene disorders. This qualitative study used two focus groups (n = 12) and one-to-one interviews (n = 16) with carriers and support group representatives of sickle cell disease, thalassaemia and cystic fibrosis. Discussions were digitally recorded, transcribed verbatim and analysed using thematic analysis. Opinions about NIPD were very positive and participants valued the opportunity to have safe and early testing. Uptake of prenatal testing is likely to increase as women who had previously declined invasive testing expressed interest in having NIPD. Participant concerns about NIPD centred on the need for accuracy to be high to be used for subsequent decision making about termination of pregnancy. Participants also raised concerns that less thought may be given to having a blood test compared to an invasive test and that the perceived ease of a blood test may bring increased pressure to have testing. Participants thought NIPD should be offered through existing specialist services to ensure appropriate genetic counseling and support. Maintaining all testing options is important as some people may prefer invasive testing over NIPD if invasive testing was more accurate or if invasive testing could give information about other conditions such as Down syndrome.

  11. Diagnostic Medical Sonographers: Seeing with Sound.

    ERIC Educational Resources Information Center

    Lacey, Alan

    2001-01-01

    Explains how diagnostic medical sonographers use special equipment to direct high frequency sound waves into areas of a patient's body. Describes specialties within the occupation, working conditions, employment and outlook, earnings, and necessary training and qualifications. (JOW)

  12. Diagnostic Medical Sonographers: Seeing with Sound.

    ERIC Educational Resources Information Center

    Lacey, Alan

    2001-01-01

    Explains how diagnostic medical sonographers use special equipment to direct high frequency sound waves into areas of a patient's body. Describes specialties within the occupation, working conditions, employment and outlook, earnings, and necessary training and qualifications. (JOW)

  13. Prenatal ethanol exposure programs an increased susceptibility of non-alcoholic fatty liver disease in female adult offspring rats

    SciTech Connect

    Shen, Lang; Liu, Zhongfen; Gong, Jun; Zhang, Li; Wang, Linlong; Magdalou, Jacques; Chen, Liaobin; Wang, Hui

    2014-01-15

    Prenatal ethanol exposure (PEE) induces dyslipidemia and hyperglycemia in fetus and adult offspring. However, whether PEE increases the susceptibility to non-alcoholic fatty liver disease (NAFLD) in offspring and its underlying mechanism remain unknown. This study aimed to demonstrate an increased susceptibility to high-fat diet (HFD)-induced NAFLD and its intrauterine programming mechanisms in female rat offspring with PEE. Rat model of intrauterine growth retardation (IUGR) was established by PEE, the female fetus and adult offspring that fed normal diet (ND) or HFD were sacrificed. The results showed that, in PEE + ND group, serum corticosterone (CORT) slightly decreased and insulin-like growth factor-1 (IGF-1) and glucose increased with partial catch-up growth; In PEE + HFD group, serum CORT decreased, while serum IGF-1, glucose and triglyceride (TG) increased, with notable catch-up growth, higher metabolic status and NAFLD formation. Enhanced liver expression of the IGF-1 pathway, gluconeogenesis, and lipid synthesis as well as reduced expression of lipid output were accompanied in PEE + HFD group. In PEE fetus, serum CORT increased while IGF-1 decreased, with low body weight, hyperglycemia, and hepatocyte ultrastructural changes. Hepatic IGF-1 expression as well as lipid output was down-regulated, while lipid synthesis significantly increased. Based on these findings, we propose a “two-programming” hypothesis for an increased susceptibility to HFD-induced NAFLD in female offspring of PEE. That is, the intrauterine programming of liver glucose and lipid metabolic function is “the first programming”, and postnatal adaptive catch-up growth triggered by intrauterine programming of GC-IGF1 axis acts as “the second programming”. - Highlights: • Prenatal ethanol exposure increase the susceptibility of NAFLD in female offspring. • Prenatal ethanol exposure reprograms fetal liver’s glucose and lipid metabolism . • Prenatal ethanol exposure cause

  14. Genetic Considerations in the Prenatal Diagnosis of Overgrowth Syndromes

    PubMed Central

    Vora, Neeta; Bianchi, Diana W.

    2015-01-01

    Large (>90%) for gestational age (LGA) fetuses are usually identified incidentally. Detection of the LGA fetus should first prompt the provider to rule out incorrect dates and maternal diabetes. Once this is done, consideration should be given to certain overgrowth syndromes, especially if anomalies are present. The overgrowth syndromes have significant clinical and molecular overlap, and are associated with developmental delay, tumors, and other anomalies. Although genetic causes of overgrowth are considered postnatally, they are infrequently diagnosed prenatally. Here, we review prenatal sonographic findings in fetal overgrowth syndromes, including Pallister-Killian, Beckwith-Wiedemann, Sotos, Perlman, and Simpson-Golabi-Behmel. We also discuss prenatal diagnosis options and recurrence risks. PMID:19609940

  15. Value of a complete sonographic survey in detecting fetal abnormalities: correlation with perinatal autopsy.

    PubMed

    Yeo, Lami; Guzman, Edwin R; Shen-Schwarz, Susan; Walters, Christine; Vintzileos, Anthony M

    2002-05-01

    To determine the sensitivity of using a complete anatomic sonographic survey in detecting fetal abnormalities via correlation with perinatal autopsy results. All perinatal autopsies (1994-2001) with positive findings for at least 1 fetal abnormality and performed by a single perinatal pathologist at our institution were retrospectively reviewed. From these cases, singleton fetuses who received prenatal sonography solely in our unit were identified. The sensitivity of sonography in detecting anomalous fetuses as well as fetal abnormalities and abnormalities by organ system was determined. Abnormalities were classified as major or minor In addition, findings from sonography and autopsy were compared, and their correlation was assigned to 1 of 3 categories. Of 88 fetuses identified, 85 had 1 or more abnormal structural sonographic findings (sensitivity for fetuses with anomalies, 97%). A total of 372 separate abnormalities were found on autopsy; of the 299 major and 73 minor abnormalities, prenatal sonography showed 224 (75%) and 13 (18%), respectively. There was either complete agreement or only minor differences between sonographic and autopsy findings in 57 (65%) of 88. The sensitivity of sonography in identifying abnormalities was greater than 70% in these systems: central nervous system, cardiac system, urinary system, extremities, genitalia, ribs, and hydrops. In experienced hands, sonography has 97% sensitivity in detecting anomalous fetuses when compared with perinatal autopsy results. Although the sensitivity of sonography in detecting major fetal abnormalities is 75%, the sensitivity for minor abnormalities is poor, even when using a complete anatomic sonographic survey. Although it has limitations, this type of survey is invaluable for both patients and physicians in diagnosing fetal abnormalities.

  16. Comparing the accuracy of obstetric sonography and fetal echocardiography during pediatric cardiology consultation in the prenatal diagnosis of congenital heart disease.

    PubMed

    Lai, Carman Wing Sze; Chau, Adolphus Kai Tung; Lee, Chin Peng

    2016-02-01

    The diagnostic accuracy of fetal echocardiogram performed by an obstetrician alone and that performed jointly by an obstetrician and pediatric cardiologist for congenital heart disease were compared. All cases of suspected fetal congenital heart disease (CHD) referred to the Prenatal Diagnostic Clinic at Tsan Yuk Hospital, Hong Kong during 2006-2011 were reviewed. Prenatal fetal echocardiogram findings were compared with postnatal diagnosis. Cases of incorrect prenatal diagnosis with significant difference in prognosis were analyzed qualitatively. One hundred and eleven cases of fetal CHD were analyzed. Complete agreement between prenatal and postnatal diagnosis of CHD was observed in 69.4% of cases by fetal echocardiogram performed by obstetrician and 83.8% by fetal echocardiogram performed during pediatric cardiology consultation (P = 0.001). Collaboration with a pediatric cardiologist also improved detection of ductal-dependent cardiac lesions (77.4% vs. 86%, P = < 0.001). Five cases with an incorrect diagnosis were associated with a different prognosis. Three of the cases involved outflow tract abnormalities with incorrect identification of outflow vessels. Collaboration with a pediatric cardiologist can significantly improve the accuracy of prenatal diagnosis of CHD. In particular, joint consultation is associated with significantly better detection of ductal-dependent lesions. Outflow tract abnormalities remain a diagnostic challenge in prenatal diagnosis. Incorrect identification of outflow tract vessels was the major cause of incorrect diagnosis in our series. © 2015 Japan Society of Obstetrics and Gynecology.

  17. Carrier and prenatal diagnosis of Lesch-Nyhan disease due to a defect in HPRT gene expression regulation.

    PubMed

    Torres, Rosa J; Garcia, Marta G; Puig, Juan G

    2012-12-15

    Lesch-Nyhan disease (LND) is caused by lack of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity. Mutations in HPRT1 gene show variability in type and location within the gene, and in certain patients the HPRT coding sequence is normal and the molecular defect cannot be found. These patients presented a decreased HPRT1 expression of unknown cause. This is the first report of a carrier and prenatal diagnosis of LND due to a defect in HPRT gene expression regulation. Copyright © 2012 Elsevier B.V. All rights reserved.

  18. Prenatal and early-life predictors of atopy and allergic disease in Canadian children: results of the Family Atherosclerosis Monitoring In earLY life (FAMILY) Study.

    PubMed

    Batool, T; Reece, P L; Schulze, K M; Morrison, K M; Atkinson, S A; Anand, S S; Teo, K K; Denburg, J A; Cyr, M M

    2016-12-01

    Prenatal and early-life environmental exposures play a key role in the development of atopy and allergic disease. The Family Atherosclerosis Monitoring In earLY life Study is a general, population-based Canadian birth cohort that prospectively evaluated prenatal and early-life traits and their association with atopy and/or allergic disease. The study population included 901 babies, 857 mothers and 530 fathers. Prenatal and postnatal risk factors were evaluated through questionnaires collected during the antenatal period and at 1 year. The end points of atopy and allergic diseases in infants were evaluated through questionnaires and skin prick testing. Key outcomes included atopy (24.5%), food allergy (17.5%), cow's milk allergy (4.8%), wheezing (18.6%) and eczema (16%). The association between infant antibiotic exposure [odds ratio (OR): 2.04, 95% confidence interval (CI): 1.45-2.88] and increased atopy was noted in the multivariate analysis, whereas prenatal maternal exposure to dogs (OR: 0.60, 95% CI: 0.42-0.84) and acetaminophen (OR: 0.68, 95% CI: 0.51-0.92) was associated with decreased atopy. This population-based birth cohort in Canada demonstrated high rates of atopy, food allergy, wheezing and eczema. Several previously reported and some novel prenatal and postnatal exposures were associated with atopy and allergic diseases at 1 year of age.

  19. Analysis of fetal blood using capillary electrophoresis system: a simple method for prenatal diagnosis of severe thalassemia diseases.

    PubMed

    Srivorakun, Hataichanok; Fucharoen, Goonnapa; Sae-Ung, Nattaya; Sanchaisuriya, Kanokwan; Ratanasiri, Thawalwong; Fucharoen, Supan

    2009-07-01

    Prenatal diagnosis of severe alpha- and beta-thalasssemia diseases is usually performed by DNA analysis. To establish a simple method, we have evaluated the reliability of prenatal diagnosis by fetal blood analysis using automated capillary electrophoresis system. Forty-seven fetal blood specimens collected by cordocentesis at 18-28 wk of gestation were analyzed by the capillary electrophoresis system (Sebia). Fetal DNA was analyzed for respective thalassemia alleles by PCR. Among 47 fetuses, 20 were at risk for the Hb Bart's hydrops fetalis. DNA analysis identified four cases of homozygous alpha degrees -thalassemia (SEA type). Hb analysis by the capillary electrophoresis demonstrated a major peak of Hb Bart's (78.4-81.3%), Hb H (0.8-1.4%) and minor peaks of presumably embryonic Hbs. No Hb F and Hb A was observed. The level of Hb Bart's was found to be 3.4-5.8% in unaffected heterozygote whereas normal fetus had no Hb Bart's. Among the remaining 27 fetuses at risk for Hb E-beta-thalassemia, DNA analysis identified 12 affected fetuses. Hb analysis showed Hb F (94.9-98.9%) and Hb E (1.1-1.8%) without Hb A in all cases. The levels of Hb A were found to be (4.3-7.2%), (1.0-5.5%) and (2.1-3.9%) in normal, heterozygous Hb E and heterozygous beta-thalassemia fetuses, respectively. Affected and unaffected fetuses could be easily distinguished. Capillary electrophoresis system is a simple and automated procedure for accurate prenatal diagnosis of severe thalassemia diseases which could readily be performed in routine setting.

  20. Prenatal parenting.

    PubMed

    Glover, Vivette; Capron, Lauren

    2017-06-01

    Parenting begins before birth. This includes prenatal maternal and paternal bonding with the baby, and biological effects on fetal development. Recent research has confirmed how prenatal maternal stress can alter the development of the fetus and the child, and that this can persist until early adulthood. Children are affected in different ways depending, in part, on their own genetic makeup. The fetus may also have a direct effect on prenatal maternal mood and later parenting behaviour via the placenta. The father is important prenatally too. An abusive partner can increase the mother's prenatal stress and alter fetal development, but he can also be an important source of emotional support. New research suggests the potential benefits of prenatal interventions, including viewing of prenatal scans and cognitive behavioural therapy. Copyright © 2017 Elsevier Ltd. All rights reserved.

  1. Rabbits' eye globe sonographic biometry.

    PubMed

    Toni, Maria Carolina; Meirelles, Adriana Érica Wilkes Burton; Gava, Fábio Nelson; Camacho, Aparecido Antônio; Laus, José Luiz; Canola, Júlio Carlos

    2010-11-01

    To measure intraocular structures in New Zealand White breed rabbits (Oryctolagus cuniculus Linnaeus, 1758) using A-mode and B-mode ultrasound with a 20 MHz transducer. In this study, the eyes of 15 rabbits were evaluated for determination of intraocular measurements using an ophthalmic ultrasound unit able to operate in both A and B-modes. The distances from the cornea to the anterior capsule of the lens (D1), from the anterior capsule of the lens to the posterior capsule of the lens (D2), from the posterior capsule of the lens to the retina (D3) and the complete length of the eye, which corresponds to the distance from the cornea to the retina (D4) were taken. The mean values obtained were 2.70 mm (± 0.22 mm) for D1, 7.32 mm (± 0.40 mm) for D2, 7.10 mm (± 0.45 mm) for D3 and 17.12 mm (± 0.41 mm) for D4. Statistical analyses using the Student's t-test showed that there were no differences between the eyes. The study was feasible without the need of pharmacological restraint and yielded normal mean values for ocular sonographic biometry in rabbits. © 2010 American College of Veterinary Ophthalmologists.

  2. Cerebral Palsy—Trends in Epidemiology and Recent Development in Prenatal Mechanisms of Disease, Treatment, and Prevention

    PubMed Central

    Stavsky, Moshe; Mor, Omer; Mastrolia, Salvatore Andrea; Greenbaum, Shirley; Than, Nandor Gabor; Erez, Offer

    2017-01-01

    Cerebral palsy (CP) is the most common motor disability in childhood. This syndrome is the manifestation of intrauterine pathologies, intrapartum complications, and the postnatal sequel, especially among preterm neonates. A double hit model theory is proposed suggesting that an intrauterine condition along with intrapartum or postnatal insult lead to the development of CP. Recent reports demonstrated that treatment during the process of preterm birth such as magnesium sulfate and postnatal modalities such as cooling may prevent or reduce the prevalence of this syndrome. Moreover, animal models demonstrated that postnatal treatment with anti-inflammatory drugs coupled with nanoparticles may affect the course of the disease in pups with neuroinflammation. This review will describe the changes in the epidemiology of this disease, the underlying prenatal mechanisms, and possible treatments that may reduce the prevalence of CP and alter the course of the disease. PMID:28243583

  3. Stomach in Contact with the Bladder: A Sonographic Sign of Left Congenital Diaphragmatic Hernia.

    PubMed

    Aiello, Horacio; Meller, César; Vázquez, Lucía; Otaño, Lucas

    2016-01-01

    The evaluation of the characteristics of the fetal stomach should be part of every routine prenatal ultrasound after 11 weeks. A position that has not been previously described in the literature is the stomach in contact with the bladder. We describe 6 cases with the ultrasonographic finding of the stomach in contact with the bladder, all of them in fetuses with left-sided congenital diaphragmatic hernia. Even though the reasons for this striking position of the stomach are not clear, our series highlights the fact that the visualization of the stomach in contact with the bladder may be a specific sonographic marker of congenital diaphragmatic hernia. © 2015 S. Karger AG, Basel.

  4. Chediak-Higashi syndrome: prenatal diagnosis by fetal blood examination in the feline model of the disease.

    PubMed

    Kahraman, M M; Prieur, D J

    1989-03-01

    Chediak-Higashi syndrome (CHS) is an autosomal recessive disease of humans, mink, cattle, mice, killer whales, cats, and blue and silver foxes. The disease is characterized by incomplete oculocutaneous albinism, recurrent and severe pyogenic infections, a bleeding tendency secondary to a platelet storage pool deficiency, and enlarged granules in many types of cells. Humans with CHS usually die during childhood. It has been suggested that the prenatal diagnosis of CHS should be possible by the demonstration of enlarged granules in neutrophils of fetal blood. We tested this hypothesis using 20 cat fetuses obtained 18 days at prepartum. Two litters (6 fetuses) were from CHS to CHS matings and four litters (14 fetuses) were from CHS male to heterozygous female matings. Fetuses were identified as CHS or phenotypically normal by histologic examination of the size of melanin granules in the ciliary body and by the size of periodic acid-Schiff-positive granules in renal tubular epithelial cells. The diameter of the peroxidase-positive granules in neutrophils of the 15 CHS fetuses ranged from 0.3 to 3.0 microns whereas those of the five normal fetuses ranged from 0.3 to 1.0 micron. All 20 fetuses were correctly classified as CHS or phenotypically normal. These data indicate that examination of the size of fetal blood neutrophil granules can be used to diagnose CHS prenatally.

  5. Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA

    PubMed Central

    Chitty, Lyn S.; Lo, Y. M. Dennis

    2015-01-01

    The identification of cell-free fetal DNA (cffDNA) in maternal plasma in 1997 heralded the most significant change in obstetric care for decades, with the advent of safer screening and diagnosis based on analysis of maternal blood. Here, we describe how the technological advances offered by next-generation sequencing have allowed for the development of a highly sensitive screening test for aneuploidies as well as definitive prenatal molecular diagnosis for some monogenic disorders. PMID:26187875

  6. Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA.

    PubMed

    Chitty, Lyn S; Lo, Y M Dennis

    2015-07-17

    The identification of cell-free fetal DNA (cffDNA) in maternal plasma in 1997 heralded the most significant change in obstetric care for decades, with the advent of safer screening and diagnosis based on analysis of maternal blood. Here, we describe how the technological advances offered by next-generation sequencing have allowed for the development of a highly sensitive screening test for aneuploidies as well as definitive prenatal molecular diagnosis for some monogenic disorders.

  7. [Performance of prenatal diagnosis and postnatal development of congenital lung malformations].

    PubMed

    Desseauve, D; Dugué-Marechaud, M; Maurin, S; Gatibelza, M-È; Vequeau-Goua, V; Mergy-Laurent, M; Levard, G; Pierre, F

    2015-04-01

    For many diseases, the comparison of prenatal diagnosis with a histopathological reality is not always possible. Fetal lung pathology, with its high rate of surgery in postnatal, allows this assessment. This study proposes an approach to the reliability of prenatal diagnosis and analysis of the postnatal development of all children in care for congenital pulmonary malformation (CPM). This is a retrospective study of all cases of CPM diagnosed in Poitiers University Hospital from 1995 to 2011. Cases diagnosed prenatally were identified and the diagnostic accuracy was studied by histology when cases had surgery. The postnatal development of prenatally diagnosed cases is described and compared to children who did not receive prenatal diagnosis. Among the 45 cases of CPM supported at the Poitiers University Hospital, 30 had received prenatal diagnosis of isolated CPM. The diagnostic concordance between antenatal ultrasound and the final diagnosis is κ=0.67 (CI95% [0.38 to 0.94]). The sensitivity of ultrasound was 90% (CI95% [55-99.7]) in our series for the diagnosis of CAMP (cystic adenomatoid malformation pulmonary). We found a sonographic disappearance of lesions in 4 children, 1 child in regression, stable lesions in 21 cases. Four children showed an increase in volume of the malformation, with signs of poor tolerance in 3 cases. After birth, children who received a prenatal diagnosis were no more symptomatic than those whose diagnosis was made postnatal: 21 (70%) versus 11 (73%; P=1) respectively. Similarly, they often received prophylactic surgery: 18 (60%) versus 2 (13%) respectively (P<0.01) and less often suffered post-surgery complication: 3 (10%) versus 10 (67%) respectively (P<0.01). The number of children monitored was not significantly different in the two groups. Prenatal diagnosis allows for the precise nature of the lesion in 90% of cases in 2013 and had no impact on symptomatology at birth. When prenatal diagnosis is possible, preventive

  8. PROSPECTIVE EVALUATION OF ASSOCIATIONS BETWEEN PRENATAL CORTISOL AND ADULTHOOD CORONARY HEART DISEASE RISK: THE NEW ENGLAND FAMILY STUDY

    PubMed Central

    Stinson, Lynda J.; Stroud, Laura R.; Buka, Stephen L.; Eaton, Charles B.; Lu, Bing; Niaura, Raymond; Loucks, Eric B.

    2016-01-01

    OBJECTIVE Increasing evidence suggests that early life factors may influence coronary heart disease (CHD) risk, however little is known about contributions of prenatal cortisol. Objectives were to prospectively assess associations of maternal cortisol levels during pregnancy with offspring’s 10-year CHD risk during middle-age. METHODS Participants were 262 mother-offspring dyads from the New England Family Study. Maternal free cortisol was assessed in third trimester maternal serum samples. Ten-year CHD risk was calculated in offspring at mean age 42 years, using the validated Framingham risk algorithm incorporating diabetes, systolic and diastolic blood pressure, total and HDL cholesterol, smoking, age and sex. RESULTS In multivariable-adjusted linear regression analyses adjusted for age and race/ethnicity, high vs. low maternal cortisol tertile was associated with 36.7% (95% CI: 8.4%, 72.5%) greater mean 10-year CHD risk score in females. There was no association in males (−2.8%, 95% CI: −23.8%, 24.0%). Further adjustment for in utero socioeconomic position showed 25.9% (95% CI: −1.0%, 60.0%) greater CHD risk in females. Adjustment for maternal age and size for gestational age had little effect on findings. CONCLUSIONS Maternal prenatal cortisol levels were positively associated with 10-year CHD risk among female, and not male, offspring. Adjusting for socioeconomic position during pregnancy reduced effect size in females, suggesting it may be a common prior factor in both maternal cortisol and CHD risk. These findings provide evidence that targeting mothers who have elevated prenatal cortisol levels, including elevated cortisol in the setting of low socioeconomic position, may potentially reduce long-term CHD risk in their offspring. PMID:25768844

  9. Radiologist and Sonographer Interpretation Discrepancies for Biliary Sonographic Findings: Our Experience.

    PubMed

    Dawkins, Adrian; George, Nanditha; Ganesh, Halemane; Ayoob, Andres; Lee, James; Nair, Rashmi; Kiper, Cassie; Duncan, Kevin; Stevens, Scott

    2017-04-10

    The aim was to determine the discrepancy rate between the preliminary interpretation by sonographers and the final radiology interpretation for biliary sonographic findings. Institutional review board approval was obtained. Four hundred consecutive right upper quadrant sonographer performed ultrasounds were reviewed retrospectively. Sonographers' worksheets were compared with the final radiology report. For the purposes of this project, only the biliary findings were compared and reviewed. Discrepant findings were reviewed by 5 ultrasound experts, and a majority vote sought to determine truth, sonographer worksheet findings, or radiologist report. The clinical impact of the discrepant findings was also evaluated. Of the 400 scans, there were 338 agreements and 62 discrepancies. The overall discrepancy rate was 15.5%. The most frequently contested discrepancy was the presence or absence of pericholecystic fluid n = 21. Sonographers (S) were deemed correct 8 times and radiologists (R) 13 times, denoted 8/13 (S/R). The overall split was 30/32 (S/R) with radiologists deemed correct 52% of the time and sonographers 48% of the time. Using a 1-sample proportion χ test with Yates' continuity correction, there were no statistically significant discrepancies between the 2 groups. We observed an interpretation discrepancy rate of 15.5% with radiologists deemed correct slightly more frequently, although this did not meet statistical significance. Clinically impactful discrepant findings (6.5% of all discrepancies) were all correctly called by the radiologists. Both groups bring tremendous value to the ultrasound arena, and continued collaboration should be encouraged. The aim of this study was to determine the discrepancy rate that exists between the preliminary interpretation by sonographers and the subsequent final radiology interpretation for biliary sonographic findings.

  10. Epiploic appendagitis: color Doppler sonographic findings.

    PubMed

    Danse, E M; Van Beers, B E; Baudrez, V; Pauls, C; Baudrez, Y; Kartheuser, A; Thys, F; Pringot, J

    2001-01-01

    The aim of this study was to analyze the color Doppler sonographic findings in primary epiploic appendagitis. Color Doppler sonographic findings of ten patients with primary epiploic appendagitis were reviewed. The following sonographic features were analyzed: identification of a mass adjacent to the colonic wall; identification of spotty color areas with arterial flow in this mass and detection of abnormalities of the colonic wall adjacent to the infiltrated fatty tissue. A well-delineated hyperechoic mass adjacent to the colonic wall was detected in each patient with sonography. No colonic wall abnormalities were observed nor color Doppler signal in and around the hyperechoic area. Absence of flow at color Doppler sonography is an additional feature of epiploic appendagitis.

  11. Disruption of Fetal Hormonal Programming (Prenatal Stress) Implicates Shared Risk for Sex Differences in Depression and Cardiovascular Disease

    PubMed Central

    Goldstein, JM; Handa, RJ; Tobet, SA

    2014-01-01

    Comorbidity of major depressive disorder (MDD) and cardiovascular disease (CVD) represents the fourth leading cause of morbidity and mortality worldwide, and women have a two times greater risk than men. Thus understanding the pathophysiology has widespread implications for attenuation and prevention of disease burden. We suggest that sex-dependent MDD-CVD comorbidity may result from alterations in fetal programming consequent to the prenatal maternal environments that produce excess glucocorticoids, which then drive sex-dependent developmental alterations of the fetal hypothalamic-pituitary-adrenal (HPA) axis circuitry impacting mood, stress regulation, autonomic nervous system (ANS), and the vasculature in adulthood. Evidence is consistent with the hypothesis that disruptions of pathways associated with gamma aminobutyric acid (GABA) in neuronal and vascular development and growth factors have critical roles in key developmental periods and adult responses to injury in heart and brain. Understanding the potential fetal origins of these sex differences will contribute to development of novel sex-dependent therapeutics. PMID:24355523

  12. Making sense of risk diagnosis in case of prenatal and reproductive genetic counselling for neuromuscular diseases.

    PubMed

    Zaccaro, Antonella; Freda, Maria Francesca

    2014-03-01

    This study explored the processes of significance about the risk communication in prenatal/preconception setting within 1 month to the end of genetic counselling intervention. Participants were all attending a programme of Cardiomyology and Medical Genetics in Naples, Italy, for the first time. Transcripts of 18 semi-structured interviews were analysed using interpretative phenomenological analysis. Themes arising included the following: the familiar outcomes of genetic counselling, the risk representation and the impacts on decision-making. The findings suggest the significance of the experience of genetic risk and the implications for the support of individuals and their family after the conclusion of the genetic counselling intervention.

  13. Sonographically measured suprailiac adipose tissue is a useful predictor of non-alcoholic fatty liver disease in obese children and adolescents.

    PubMed

    Schlieske, C; Denzer, C; Wabitsch, M; Oeztuerk, S; Mason, R A; Thiere, D; Kratzer, W

    2015-08-01

    The objective of the present study was to identify ultrasonographic and anthropometric parameters that are highly associated with the presence of non-alcoholic fatty liver disease (NAFLD) in overweight children and adolescents. A total of 447 overweight children and adolescents (body mass index, 32.4 ± 5.2 kg m(-2) ; mean age, 14.2 ± 1.9 years; range 10.1-20.3 years) were analysed. Subjects underwent ultrasound examination of the liver as well as ultrasonographic measurement of the amount of adipose tissue overlying the biceps brachii and triceps brachii muscles, and of subscapular, suprailiac and abdominal subcutaneous adipose tissue and intra-abdominal depth. Anthropometric parameters such as body mass index, waist and hip circumference were documented. The prevalence of NAFLD was 27.1%; it was significantly associated with the above-cited anthropometric parameters (P < 0.001). Ultrasonographic findings identified a significant association between NAFLD and the amount of subscapular, suprailiac and abdominal subcutaneous adipose tissue (P < 0.001) as well as between NAFLD and intra-abdominal depth (P < 0.001). Stepwise logistic regression analysis showed only intra-abdominal depth for both gender and the deposit of subcutaneous suprailiac adipose tissue in females to be independent predictors of NAFLD. In overweight children and adolescents, we identified intra-abdominal depth for both gender and the ultrasonographically easily determined subcutaneous suprailiac adipose tissue in females as independent predictor of NAFLD. © 2014 World Obesity.

  14. Testicular Vasculitis: A Sonographic and Pathologic Diagnosis

    PubMed Central

    Hague, Cameron; Bicknell, Simon

    2017-01-01

    Very little has been published about single-organ vasculitis of the testicle in the radiological literature. Consequently, it is a diagnosis that is unfamiliar to most radiologists. This case report describes the sonographic, pathologic, and laboratory findings of testicular vasculitis and reviews the available literature with regard to this subject. PMID:28246567

  15. Retrospective chart review of 44 fetuses with cervicofacial tumors in the sonographic assessment.

    PubMed

    Zielinski, Rafal; Respondek-Liberska, Maria

    2015-03-01

    The aim of this retrospective study was to review and analyze ultrasonography examinations and follow-up of fetuses with cervicofacial tumors to develop bases for counseling specialist involved in perinatal treatment. The study consisted of case series with chart review of 44 fetuses with cervicofacial tumors diagnosed in utero by ultrasonography. The study was carried in Department of Diagnosis and Prevention of Congenital Malformations, Medical University of Lodz in years 1998-2013. The analysis of the fetuses with cervicofacial tumors included assessment of fetal sonographic features, neonatal survival and in utero as well as perinatal treatments. The obtained data were analyzed by the standard statistical tests and the Pearson's Chi square test, statistical significance at p=0.05. Cervicofacial tumors were detected at mean 19±7 weeks of gestation. Eighty-two percent of the fetuses were males. Lymphatic malformations followed by teratomas were the most common fetal tumors in the cervicofacial region. In most cases, fetuses with cervicofacial tumors had other abnormalities. Mortality rate in our case series was 43%. In utero treatment was introduced in 6 fetuses. In 4 neonates prenatal sonographic assessment revealed upper airway patency and EXIT procedure (ex-utero intrapartum treatment) was introduced. Prenatal sonographic detection of cervicofacial tumor, in case of lymphatic malformations possibly as early as in the first trimester, in case of craniofacial teratomas, cervical teratomas, hemangiomas and thyroid tumors possibly as early as in the second trimester, and in case of epignathi possibly in the third trimester, permits planning further course of pregnancy as well as EXIT procedure before delivery. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  16. Sonographic appearance of anal cushions of hemorrhoids

    PubMed Central

    Aimaiti, Adilijiang; A Ba Bai Ke Re, Ma Mu Ti Jiang; Ibrahim, Irshat; Chen, Hui; Tuerdi, Maimaitituerxun; Mayinuer

    2017-01-01

    AIM To evaluate the diagnostic value of different sonographic methods in hemorrhoids. METHODS Forty-two healthy volunteers and sixty-two patients with grades I-IV hemorrhoids received two different sonographic examinations from January 2013 to January 2016 at the First and Second Hospitals of Xinjiang Medical University in a prospective way. We analyzed the ultrasonographic findings of these participants and evaluated the outcomes. Resected grades III and IV hemorrhoid tissues were pathologically examined. The concordance of ultrasonographic results with pathology results was assessed with the Cohen’s kappa coefficient. RESULTS All healthy volunteers and all patients had no particular complications related to sonography. There were no statistically significant differences between the participants regarding age (P = 0.5919), gender (P = 0.4183), and persistent symptoms (P > 0.8692). All healthy control participants had no special findings. However, 30 patients with hemorrhoids showed blood signals around the dentate line on ultrasonography. When grades I and II hemorrhoids were analyzed, there were no significant differences between transrectal ultrasound (TRUS), transperianal ultrasound (TPUS), and transvaginal ultrasound (TVUS) (P > 0.05). Grades III and IV hemorrhoids revealed blood flow with different directions which could be observed as a “mosaic pattern”. In patients with grades III and IV hemorrhoids, the number of patients with “mosaic pattern” as revealed by TRUS, TPUS and TVUS was 22, 12, and 4, respectively. Patients with grades III and IV disease presented with a pathologically abnormal cushion which usually appeared as a “mosaic pattern” in TPUS and an arteriovenous fistula in pathology. Subepithelial vessels of resected grades III and IV hemorrhoid tissues were manifested by obvious structural impairment and retrograde and ruptured changes of internal elastic lamina. Some parts of the Trietz’s muscle showed hypertrophy and distortion

  17. The Right to Ignore Genetic Risk in the Genomic Era - Prenatal testing for Huntington Disease as a paradigm

    PubMed Central

    Erez, Ayelet; Plunkett, Katie; Sutton, V. Reid; McGuire, Amy L

    2013-01-01

    During the last decade, the field of human genome research has gone through a phase of rapid discovery that has provided scientists and physicians with a wide variety of research tools that are applicable to important medical issues. We describe a case of familial Huntington disease (HD), where the proband at risk preferred not to know his disease status but wanted to know the status in his unborn child. Once we found the father to be negative, the case raised an important ethical question regarding the management of this as well as future pregnancies. This paper discusses the arguments for and against the right not to know of one’s carrier status, as well as professional obligations in the context of withholding unwanted information that may have direct implications not only for the patient himself but also for other family members. HD has been the gold standard for many other adult onset genetic diseases in terms of carrier testing guidelines. Hence, we feel it is time to revisit the issue of prenatal testing for HD and consider updating the current recommendations regarding the patient’s right to “genetic ignorance”, the right not to know genetic information. PMID:20583190

  18. Sonographic joint assessment in rheumatoid arthritis: associations with clinical joint assessment during a state of remission.

    PubMed

    Gärtner, Miriam; Mandl, Peter; Radner, Helga; Supp, Gabriela; Machold, Klaus P; Aletaha, Daniel; Smolen, Josef S

    2013-08-01

    Sonography, as compared with clinical assessment, is a sensitive tool for evaluating synovitis in rheumatoid arthritis (RA). However, differences between these assessment tools may depend on how joint activity (i.e., an active joint) is defined. The present study was undertaken to compare clinically active joints with sonographically active joints in patients with RA, applying different sonographic definitions of an active joint. Sonographic assessment of the finger and wrist joints (total of 11 joints) of each hand was performed in RA patients whose disease was in remission (Clinical Disease Activity Index ≤2.8; n = 60). Gray-scale (GS) and power Doppler (PD) ultrasound signals for synovitis were evaluated on a 4-point scale (grade 0 = none, grade 3 = severe). The sensitivity and specificity of swollen joint counts were investigated using, as reference, increasingly stringent sonographic definitions of an active joint. Sonographic findings were also assessed for correlations with other clinical variables, including the Health Assessment Questionnaire (HAQ) disability index (DI). Followup analyses were performed after 6-12 months. GS ultrasound signals yielded positive findings for synovitis in 67.2% of the 1,320 joints assessed, and PD ultrasound signals indicated signs of synovitis in 20.4% of the joints assessed. Clinical identification of joint swelling was 100% specific for sonographic joint activity, independent of the stringency of the sonographic definition used; maximum sensitivity of the swollen joint counts was 25% for the most stringent definition (i.e., GS grade 3 and PD grade 3). Furthermore, patients with a higher-grade PD signal (grade 3) showed a higher HAQ DI score compared to patients with lower-grade PD signals (mean ± SD HAQ DI 0.45 ± 0.62 versus 0.20 ± 0.35). A higher grade of PD signal at baseline was found in joints that were assessed as clinically swollen at the consecutive followup visit. Low-grade PD and GS ultrasound signals may not

  19. Prenatal Care

    MedlinePlus

    ... many problems and prevent others. Your doctor or midwife will give you a schedule for your prenatal ... diabetes or high blood pressure, your doctor or midwife will probably want to see you more often. ...

  20. Sonographic synovial vascularity of synovitis in rheumatoid arthritis.

    PubMed

    Fukae, Jun; Tanimura, Kazuhide; Atsumi, Tatsuya; Koike, Takao

    2014-04-01

    RA is a condition of multiple synovitis. Abnormal synovial vascularity (SV) is evident with the onset of joint inflammation. The idea of estimating the level of joint inflammation by sonographic SV was conceived with the advancement of US. The ideal treatment strategy, called treat to target (T2T), requires early diagnosis and assessment of RA. Detection of positive SV can be useful for proving the presence of synovitis and finally diagnosing RA. In the assessment of RA, US-based global scores aimed at assessing overall disease activity have the potential to be useful for the achievement of T2T because US can directly detect changes in synovitis. Remaining SV in local joints increases the risk of structural deterioration. RA requires both improvement of overall disease activity and the disappearance of local SV for remission. The evaluation of SV provides various information and contributes to the clinical treatment of RA.

  1. Sonographic appearances of Chinese intrauterine devices.

    PubMed

    Cheung, Vincent Y T

    2010-07-01

    The purpose of this presentation is to familiarize physicians about the different types of intrauterine devices (IUDs) used in China. The characteristic features and the sonographic appearances of the different types of IUDs commonly used in China are described. The stainless steel ring is the most commonly used IUD in China. However, various different types of copper-bearing IUDs are gaining popularity. Most Chinese IUDs do not have an attached thread and are more difficult to remove than the IUDs commonly used in North America. Also, most Chinese IUDs have a distinct sonographic appearance; therefore, sonography can play an important role when assessing a woman who has a retained Chinese IUD or has a complication associated with the IUD. Knowledge about the different types of Chinese IUDs will enable physicians to provide optimal care to their patients.

  2. Sonographic demonstration of Peyronie plaques.

    PubMed

    Altaffer, L F; Jordan, G H

    1981-03-01

    Patients with Peyronie disease have been evaluated with diagnostic ultrasonography to delineate the plaques and identify the presence of calcification. The advantages of this procedure are discussed. This is the first report of the use of diagnostic ultrasound in the evaluation of Peyronie disease.

  3. Prenatal diagnosis of Pfeiffer syndrome type II.

    PubMed

    Blaumeiser, Bettina; Loquet, Philip; Wuyts, Wim; Nöthen, Markus M

    2004-08-01

    Pfeiffer syndrome is an autosomal dominant disorder characterized by coronal craniosynostosis, midface hypoplasia, broad thumbs and great toes. On the basis of clinical findings, three subtypes have been delineated. The clinical variability of Pfeiffer syndrome as well as other causes of craniosynostosis can make a prenatal diagnosis based on sonography alone difficult. We describe a fetus in whom sonographic findings (including 3D ultrasound) suggested a Pfeiffer syndrome type II and in which subsequent molecular analysis verified the diagnosis by identifying a de novo mutation in the FGFR2 gene. To the best of our knowledge, this is the first report of a prenatal molecular diagnosis of Pfeiffer syndrome in a patient without family history.

  4. Prenatal diagnosis of type 2 Pfeiffer syndrome.

    PubMed

    Bernstein, P S; Gross, S J; Cohen, D J; Tiller, G R; Shanske, A L; Bombard, A T; Marion, R W

    1996-12-01

    Pfeiffer syndrome is an autosomal dominantly inherited disorder consisting of craniosynostosis, a flattened midface with a beaked nose and ocular proptosis, and broad and medially deviated thumbs and great toes. Recently, based on clinical findings, the disorder has been divided into three subtypes: type 1, characterized by mild expression; type 2, in which clover leaf skull deformity and multiple congenital anomalies are present at birth; and type 3, which is similar to type 2, but lacks the presence of the clover leaf skull at birth. We describe a fetus in whom sonographic findings of clover leaf skull deformity, ocular hypertelorism, and varus deformity of the great toe led to the prenatal diagnosis of Pfeiffer syndrome type 2. We believe this is the second prenatal diagnosis of Pfeiffer syndrome, and the first time type 2 has been definitely identified in the second trimester of pregnancy.

  5. Modeling a sensitization stage and a precipitation stage for Parkinson's disease using prenatal and postnatal 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine administration.

    PubMed

    Muthian, G; Mackey, V; King, J; Charlton, C G

    2010-09-01

    Idiopathic Parkinson's disease (PD) is a neurodegenerative disorder of mature and older individuals. Since all aged individuals do not develop PD, predisposing conditions may exist that pair with the stress placed on the basal ganglia during aging to produce the symptoms of PD. In this project we used 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) to test the hypothesis that a sensitization stage and a precipitating stage underlie idiopathic PD. To induce the sensitization stage, pregnant C57BL/6J mice were treated with MPTP (10 mg/kg/day) during gestation days 8-12 to target the emerging fetal nigrostriatal dopamine neurons. For the precipitating stage, the 3-months old offspring were administered MPTP for 7 days, to simulate the changes that occur during aging. The weights and motor activity of the offspring, high performance liquid chromatography (HPLC) striatal dopamine and its metabolites and Western blot for tyrosine hydroxylase (TH) were determined. Offspring exposed to prenatal MPTP showed lower birth weights that eventually recovered. Prenatal MPTP also reduced motor activity by 10-30%, striatal TH by 38%, dopamine by 14%, homovanillic acid by 16.5% and 3-methoxytyramine by 66%. The postnatal MPTP was more potent in the prenatal MPTP-exposed offspring. MPTP at 10, 20 and 30 mg/kg, dose-relatedly, reduced striatal TH by 9.4%, 48.6% and 82.4% in the prenatal-phosphate buffered saline (PBS) mice and by 48%, 78.7% and 92.7% in the prenatal-MPTP groups. More importantly, postnatal MPTP at 10 mg/kg that showed slight effects on DA, DOPAC, HVA and 3-MT in the prenatal-PBS offspring, showed 69.9%, 80.0%, 48.4% and 65.4% reductions in the prenatal-MPTP mice. The study may identify a new model for PD, and the outcome suggests that some cases of idiopathic PD may have a fetal basis in which early subtle nigrostriatal impairments occurred and PD symptoms are precipitated later by deteriorating changes in the nigrostriatum, that would not caused symptoms in

  6. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.

    PubMed

    Al-Maawali, Almundher; Dupuis, Lucie; Blaser, Susan; Heon, Elise; Tarnopolsky, Mark; Al-Murshedi, Fathiya; Marshall, Christian R; Paton, Tara; Scherer, Stephen W; Roelofsen, Jeroen; van Kuilenburg, André B P; Mendoza-Londono, Roberto

    2015-03-01

    PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated with reduced activity includes Arts syndrome, Charcot-Marie-Tooth disease-5 (CMTX5) and X-linked non-syndromic sensorineural deafness (DFN2). We describe a novel phenotype associated with decreased PRS-1 function in two affected male siblings. Using whole exome and Sanger sequencing techniques, we identified a novel missense mutation in PRPS1. The clinical phenotype in our patients is characterized by high prenatal maternal α-fetoprotein, intrauterine growth restriction, dysmorphic facial features, severe intellectual disability and spastic quadraparesis. Additional phenotypic features include macular coloboma-like lesions with retinal dystrophy, severe short stature and diabetes insipidus. Exome sequencing of the two affected male siblings identified a shared putative pathogenic mutation c.586C>T p.(Arg196Trp) in the PRPS1 gene that was maternally inherited. Follow-up testing showed normal levels of hypoxanthine in urine samples and uric acid levels in blood serum. The PRS activity was significantly reduced in erythrocytes of the two patients. Nucleotide analysis in erythrocytes revealed abnormally low guanosine triphosphate and guanosine diphosphate. This presentation is the most severe form of PRPS1-deficiency syndrome described to date and expands the spectrum of PRPS1-related disorders.

  7. Prenatal dog-keeping practices vary by race: speculations on implications for disparities in childhood health and disease.

    PubMed

    Ezell, Jerel M; Cassidy-Bushrow, Andrea E; Havstad, Suzanne; Joseph, Christine L M; Wegienka, Ganesa; Jones, Kyra; Ownby, Dennis R; Johnson, Christine Cole

    2014-01-01

    There is consistent evidence demonstrating that pet-keeping, particularly of dogs, is beneficial to human health. We explored relationships between maternal race and prenatal dog-keeping, accounting for measures of socioeconomic status that could affect the choice of owning a pet, in a demographically diverse, unselected birth cohort. Self-reported data on mothers' race, socioeconomic characteristics and dog-keeping practices were obtained during prenatal interviews and analyzed cross-sectionally. Robust methods of covariate balancing via propensity score analysis were utilized to examine if race (Black vs White), independent of other participant traits, influenced prenatal dog-keeping. A birth cohort study conducted in a health care system in metropolitan Detroit, Michigan between September 2003 and November 2007. 1065 pregnant women (n=775 or 72.8% Black), between ages 21 and 45, receiving prenatal care. Participant's self-report of race/ethnicity and prenatal dog-keeping, which was defined as her owning or caring for > or =1 dog for more than 1 week at her home since learning of her pregnancy, regardless of whether the dog was kept inside or outside of her home. In total, 294 women (27.6%) reported prenatal dog-keeping. Prenatal dog-keeping was significantly lower among Black women as compared to White women (20.9% vs 45.5%, P<.001), and remained significantly different even after propensity score analysis was applied. Findings suggest that there are persistent racial differences in dog-keeping not fully explained by measures of socioeconomic status. Racial differences in prenatal dog-keeping may contribute to childhood health disparities.

  8. Prenatal Dog-Keeping Practices Vary by Race: Speculations on Implications for Disparities in Childhood Health and Disease

    PubMed Central

    Ezell, Jerel M.; Cassidy-Bushrow, Andrea E.; Havstad, Suzanne; Joseph, Christine L. M.; Wegienka, Ganesa; Jones, Kyra; Ownby, Dennis R.; Johnson, Christine Cole

    2014-01-01

    Objective There is consistent evidence demonstrating that pet-keeping, particularly of dogs, is beneficial to human health. We explored relationships between maternal race and prenatal dog-keeping, accounting for measures of socioeconomic status that could affect the choice of owning a pet, in a demographically diverse, unselected birth cohort. Design Self-reported data on mothers’ race, socioeconomic characteristics and dog-keeping practices were obtained during prenatal interviews and analyzed cross-sectionally. Robust methods of covariate balancing via propensity score analysis were utilized to examine if race (Black vs White), independent of other participant traits, influenced prenatal dog-keeping. Setting A birth cohort study conducted in a health care system in metropolitan Detroit, Michigan between September 2003 and November 2007. Participants 1065 pregnant women (n=775 or 72.8% Black), between ages 21 and 45, receiving prenatal care. Main Outcome Measures Participant’s self-report of race/ethnicity and prenatal dog-keeping, which was defined as her owning or caring for ≥1 dog for more than 1 week at her home since learning of her pregnancy, regardless of whether the dog was kept inside or outside of her home. Results In total, 294 women (27.6%) reported prenatal dog-keeping. Prenatal dog-keeping was significantly lower among Black women as compared to White women (20.9% vs 45.5%, P<.001), and remained significantly different even after propensity score analysis was applied. Conclusion Findings suggest that there are persistent racial differences in dog-keeping not fully explained by measures of socioeconomic status. Racial differences in prenatal dog-keeping may contribute to childhood health disparities. PMID:24620456

  9. Sonographic detection of intestinal pneumatosis.

    PubMed

    Danse, E M; Van Beers BE; Gilles, A; Jacquet, L

    2000-06-01

    Intestinal pneumatosis is an uncommon affection characterized by the presence of gas in the wall of the gastro-intestinal tract. The prognosis of this condition, observed in benign or severe diseases, is based on the outcome of the underlying affection. The diagnosis of pneumatosis intestinalis is unusually made with sonography. We report a case of pneumatosis intestinalis due to small bowel necrosis, initially suggested with sonography and further confirmed with computed tomography (CT) and pathology.

  10. Cytogenetic analysis in prenatal diagnosis.

    PubMed Central

    Schonberg, S A

    1993-01-01

    Chromosome analysis is the single most frequent test used in laboratory prenatal diagnostic studies. I summarize the current status of the field, including diagnostic problems in the laboratory and the clinical problems associated with communicating unexpected laboratory findings. I explore the effect of molecular genetics on these issues and its possible future effects on the entire practice of prenatal diagnosis as it relates to the risk for chromosome nondisjunction (trisomy). I also discuss the use of cytogenetic analysis in the prenatal diagnosis of certain inherited genetic diseases. Images PMID:8236978

  11. Timing and Mode of Delivery in Prenatally Diagnosed Congenital Heart Disease- an Analysis of Practices within the University of California Fetal Consortium (UCfC).

    PubMed

    Peyvandi, Shabnam; Nguyen, Tina Ahn Thu Thi; Almeida-Jones, Myriam; Boe, Nina; Rhee, Laila; Anton, Tracy; Sklansky, Mark; Tarsa, Maryam; Satou, Gary; Moon-Grady, Anita J

    2017-03-01

    Prenatal diagnosis of critical congenital heart disease (CHD) is associated with decreased morbidity. It is also associated with lower birth weights and earlier gestational age at delivery. The University of California Fetal Consortium (UCfC) comprises five tertiary medical centers, and was created to define treatment practices. We utilized this consortium to assess delivery patterns and outcomes in subjects with prenatal and postnatal diagnosis of CHD. A retrospective cohort study was conducted on maternal-neonatal pairs diagnosed with complex CHD prenatally (n = 186) and postnatally (n = 110) from 2011 to 2013. Outcomes were assessed between groups after adjusting for disease severity. Prenatally diagnosed subjects were born earlier (38.1 ± 0.11 vs. 39 ± 0.14 weeks, p = < 0.001), and had lower birth weights (2853 ± 49 vs. 3074 ± 58 g, p = 0.005) as compared to postnatal diagnosis. For every week increase in gestational age and 100 g increase in birth weight, length of stay decreased by 12.3 ± 2.7% (p < 0.001) and 3.9 ± 0.9% (p < 0.001). Subjects with prenatal diagnosis were more often born via cesarean both planned (35.6 vs. 26.2%, p = 0.004) and after a trial of labor (13 vs. 7.8%, p = 0.017). Neonates with cesarean delivery trended toward a longer length of stay (2.6 days longer), and were born earlier as compared to other modalities (37.7 ± 0.22 weeks, p = 0.001). Management after prenatal diagnosis of CHD appears to have modifiable disadvantages for maternal and neonatal outcomes. The UCfC provides a platform to study best practices and standardization of care for future studies.

  12. Prenatal stress, development, health and disease risk: a psychobiological perspective – 2015 Curt Richter Award Winner

    PubMed Central

    Entringer, Sonja; Buss, Claudia; Wadhwa, Pathik D.

    2015-01-01

    The long-term consequences of exposure to excess stress, particularly during sensitive developmental windows, on the initiation and progression of many complex, common physical and mental disorders that confer a major global burden of disease are well established. The period of intrauterine life represents among the most sensitive of these windows, at which time the effects of stress may be transmitted inter-generationally from a mother to her as-yet-unborn child. As explicated by the concept of fetal, or developmental, programming of health and disease susceptibility, a growing body of evidence supports the notion that health and disease susceptibility is determined by the dynamic interplay between genetic makeup and environment, particularly during intrauterine and early postnatal life. Except in extreme cases, an adverse intrauterine exposure may not, per se, ‘cause’ disease, but, instead, may determine propensity for disease(s) in later life (by shaping phenotypic responsivity to endogenous and exogenous disease-related risk conditions). Accumulating evidence suggests that maternal psychological and social stress during pregnancy represents one such condition that may adversely affect the developing child, with important implications for a diverse range of physical and mental health outcomes. In this paper we review primarily our own contributions to the field of maternal stress during pregnancy and child mental and physical health-related outcomes. We present findings on stress-related maternal-placental-fetal endocrine and immune/inflammatory processes that may mediate the effects of various adverse conditions during pregnancy on the developing human embryo and fetus. We enunciate conceptual and methodological issues related to the assessment of stress during pregnancy and discuss potential mechanisms of intergenerational transmission of the effects of stress. Lastly, we describe on-going research and some future directions of our program. PMID:26372770

  13. Prenatal stress, development, health and disease risk: A psychobiological perspective-2015 Curt Richter Award Paper.

    PubMed

    Entringer, Sonja; Buss, Claudia; Wadhwa, Pathik D

    2015-12-01

    The long-term consequences of exposure to excess stress, particularly during sensitive developmental windows, on the initiation and progression of many complex, common physical and mental disorders that confer a major global burden of disease are well established. The period of intrauterine life represents among the most sensitive of these windows, at which time the effects of stress may be transmitted inter-generationally from a mother to her as-yet-unborn child. As explicated by the concept of fetal or developmental programming of health and disease susceptibility, a growing body of evidence supports the notion that health and disease susceptibility is determined by the dynamic interplay between genetic makeup and environment, particularly during intrauterine and early postnatal life. Except in extreme cases, an adverse intrauterine exposure may not, per se, 'cause' disease, but, instead, may determine propensity for disease(s) in later life (by shaping phenotypic responsivity to endogenous and exogenous disease-related risk conditions). Accumulating evidence suggests that maternal psychological and social stress during pregnancy represents one such condition that may adversely affect the developing child, with important implications for a diverse range of physical and mental health outcomes. In this paper we review primarily our own contributions to the field of maternal stress during pregnancy and child mental and physical health-related outcomes. We present findings on stress-related maternal-placental-fetal endocrine and immune/inflammatory processes that may mediate the effects of various adverse conditions during pregnancy on the developing human embryo and fetus. We enunciate conceptual and methodological issues related to the assessment of stress during pregnancy and discuss potential mechanisms of intergenerational transmission of the effects of stress. Lastly, we describe on-going research and some future directions of our program.

  14. A critical review: early life nutrition and prenatal programming for adult disease.

    PubMed

    Carolan-Olah, Mary; Duarte-Gardea, Maria; Lechuga, Julia

    2015-12-01

    To present the evidence in relation to early life nutrition and foetal programming for adult disease. Epigenetics is a new and growing area of study investigating the impact of the intrauterine environment on the lifelong health of individuals. Discursive paper. Searches were conducted in a range of electronic health databases. Hand searches located additional articles for review. Maternal search terms included: pregnancy; nutrition; diet; obesity; over nutrition; under nutrition. Offspring related search terms included: macrosomia; intrauterine growth restriction; epigenetics; foetal programming; childhood obesity; adolescent obesity; adolescent type 2 diabetes. Results indicate that foetal programming for adult disease occurs in response to particular insults during vulnerable developmental periods. Four main areas of foetal exposure were identified in this review: (1) under nutrition; (2) over nutrition; (3) gestational diabetes mellitus; and (4) infant catch-up growth. Numerous studies also described the trans-generational nature of foetal programming. Overall, foetal exposure to excess or insufficient nutrition during vulnerable developmental periods appears to result in a lifelong predisposition to obesity and adult disease, such as type 2 diabetes and cardiac disease. For the infant who has been undernourished during early life, a predisposition to renal disease also occurs. Pregnancy is a time when women are engaged in health systems and are receptive to health messages. These factors suggest that pregnancy may be an optimal time for dietary education and intervention. There is a particular need for education on healthy diet and for interventions which aim to limit over consumption of calories. © 2015 John Wiley & Sons Ltd.

  15. Sonographic Appearance of Lesions Diagnosed as Lobular Neoplasia at Sonographically Guided Biopsies.

    PubMed

    Ferré, Romuald; Omeroglu, Atilla; Mesurolle, Benoît

    2017-03-01

    The objective of our study was to review the sonographic features of breast lesions yielding lobular neoplasia (LN) at sonographically guided biopsy, evaluate the surgical pathology outcome of these lesions, and determine if imaging findings or clinical features can be used to predict an upgrade to malignancy. Of the 8205 sonographically guided breast biopsies (14-gauge cores) performed from 2007 through 2014, 22 yielded a diagnosis of LN, which means that LN was the most severe pathologic lesion. Imaging features were analyzed in consensus by two radiologists. Correlation of biopsy findings with definitive pathologic results was performed when available. Twenty-two LN lesions (20 patients [mean age ± SD, 52.05 ± 13.66 years]) were diagnosed at biopsy. Of the LN lesions that were seen on mammography (6/22, 27.3%), most lesions appeared as masses (3/6, 50%). On sonography, LN lesions (mean size, 8.10 mm) appeared as masses (15/22, 68.2%) with oval shape (10/15, 66.7%), well-circumscribed or microlobulated margins (11/15, 73.3%), hypoechoic echotexture (10/15, 66.7%), posterior enhancement (73.3%, 11/15), and parallel orientation (8/15, 53.3%). Most of the masses were categorized as BI-RADS category 4 (21/22, 95.5%). Seven lesions (7/22, 31.8%) appeared as areas of shadowing or distortion without discrete masses. Twenty (20/22, 90.9%) lesions were excised surgically, and pathology results led to an upgrade in five lesions (5/20, 25% [one nonmass lesion and four masses]). Neither mammographic nor sonographic features were associated with malignant outcome (p > 0.05). LN diagnosed at sonographically guided 14-gauge core needle biopsy does not show any specific features according to the BI-RADS lexicon and is associated with a 25% underestimation rate. No clinical or imaging characteristic is predictive of malignancy.

  16. Sonographic Evaluation of the Peripheral Nerves in Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report

    PubMed Central

    Kim, Se Hwa; Yoon, Joon Shik; Park, Bum Jun

    2014-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominantly inherited disorder that affects peripheral nerves by repeated focal pressure. HNPP can be diagnosed by clinical findings, electrodiagnostic studies, histopathological features, and genetic analysis. Ultrasonography is increasingly used for the diagnosis of neuromuscular diseases; however, sonographic features of HNPP have not been clearly defined. We report the sonographic findings and comparative electrodiagnostic data in a 73-year-old woman with HNPP, confirmed by genetic analysis. The cross-sectional areas of peripheral nerves were enlarged at typical nerve entrapment sites, but enlargement at non-entrapment sites was uncommon. These sonographic features may be helpful for diagnosis of HNPP when electrodiagnostic studies are suspicious of HNPP and/or gene study is not compatible. PMID:24639934

  17. Sonographic evaluation of the peripheral nerves in hereditary neuropathy with liability to pressure palsies: a case report.

    PubMed

    Kim, Se Hwa; Yang, Seung Nam; Yoon, Joon Shik; Park, Bum Jun

    2014-02-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominantly inherited disorder that affects peripheral nerves by repeated focal pressure. HNPP can be diagnosed by clinical findings, electrodiagnostic studies, histopathological features, and genetic analysis. Ultrasonography is increasingly used for the diagnosis of neuromuscular diseases; however, sonographic features of HNPP have not been clearly defined. We report the sonographic findings and comparative electrodiagnostic data in a 73-year-old woman with HNPP, confirmed by genetic analysis. The cross-sectional areas of peripheral nerves were enlarged at typical nerve entrapment sites, but enlargement at non-entrapment sites was uncommon. These sonographic features may be helpful for diagnosis of HNPP when electrodiagnostic studies are suspicious of HNPP and/or gene study is not compatible.

  18. Induced pluripotent stem cells offer new approach to therapy in thalassemia and sickle cell anemia and option in prenatal diagnosis in genetic diseases.

    PubMed

    Ye, Lin; Chang, Judy C; Lin, Chin; Sun, Xiaofang; Yu, Jingwei; Kan, Yuet Wai

    2009-06-16

    The innovation of reprogramming somatic cells to induced pluripotent stem cells provides a possible new approach to treat beta-thalassemia and other genetic diseases such as sickle cell anemia. Induced pluripotent stem (iPS) cells can be made from these patients' somatic cells and the mutation in the beta-globin gene corrected by gene targeting, and the cells differentiated into hematopoietic cells to be returned to the patient. In this study, we reprogrammed the skin fibroblasts of a patient with homozygous beta(0) thalassemia into iPS cells, and showed that the iPS cells could be differentiated into hematopoietic cells that synthesized hemoglobin. Prenatal diagnosis and selective abortion have been effective in decreasing the number of beta-thalassemia births in some countries that have instituted carrier screening and genetic counseling. To make use of the cells from the amniotic fluid or chorionic villus sampling that are used for prenatal diagnosis, we also showed that these cells could be reprogrammed into iPS cells. This raises the possibility of providing a new option following prenatal diagnosis of a fetus affected by a severe illness. Currently, the parents would choose either to terminate the pregnancy or continue it and take care of the sick child after birth. The cells for prenatal diagnosis can be converted into iPS cells for treatment in the perinatal periods. Early treatment has the advantage of requiring much fewer cells than adult treatment, and can also prevent organ damage in those diseases in which damage can begin in utero or at an early age.

  19. Prenatal Care.

    ERIC Educational Resources Information Center

    Health Resources and Services Administration (DHHS/PHS), Rockville, MD. Office for Maternal and Child Health Services.

    This booklet is the first in a series of publications designed to provide parents with useful information about childrearing. Contents are organized into three parts. Part I focuses on the pregnancy, prenatal care, development of the baby, pregnant lifestyles, nutrition, common discomforts, and problems of pregnancy. Part II provides information…

  20. Prenatal Care.

    ERIC Educational Resources Information Center

    Office of Child Development (DHEW), Washington, DC.

    Initially published by the Children's Bureau in 1913, this pamphlet has been revised frequently. Its purpose is to point out the importance of medical care during pregnancy. Comfortable pregnancies, easy labor, and better care for their new infants are the usual concerns of prospective mothers. Consequently, this 1962 edition of "Prenatal Care"…

  1. [Prenatal medicine and prenatal diagnosis].

    PubMed

    Valero de Bernabé Martín de Eugenio, Javier

    2009-01-01

    Prenatal diagnosis universalization allows knowing the prognostic possibilities in a situation of limited therapeutical resources. Therefore, besides permitting the peace of a normal fetal development, in other circumstances it can provoke parent's requirement to interrupt pregnancy in cases of malformation or chromosomal alteration, situations that parents may conceive as difficult for child's life and family environment. Diagnostic tests reliability and risks, information given to the parents, conversion in an eugenic practice of prenatal diagnosis and OMS recommendations in relation to the optional and voluntary character that this diagnosis should have are analysed.

  2. Adverse prenatal environment and kidney development: implications for programing of adult disease.

    PubMed

    Dorey, Emily S; Pantaleon, Marie; Weir, Kristy A; Moritz, Karen M

    2014-06-01

    The 'developmental origins of health and disease' hypothesis suggests that many adult-onset diseases can be attributed to altered growth and development during early life. Perturbations during gestation can be detrimental and lead to an increased risk of developing renal, cardiovascular, metabolic, and neurocognitive dysfunction in adulthood. The kidney has emerged as being especially vulnerable to insult at almost any stage of development resulting in a reduction in nephron endowment. In both humans and animal models, a reduction in nephron endowment is strongly associated with an increased risk of hypertension. The focus of this review is twofold: i) to determine the importance of specific periods during development on long-term programing and ii) to examine the effects of maternal perturbations on the developing kidney and how this may program adult-onset disease. Recent evidence has suggested that insults occurring around the time of conception also have the capacity to influence long-term health. Although epigenetic mechanisms are implicated in mediating these outcomes, it is unclear as to how these may impact on kidney development. This presents exciting new challenges and areas for research. © 2014 Society for Reproduction and Fertility.

  3. Prenatal ethanol exposure programs an increased susceptibility of non-alcoholic fatty liver disease in female adult offspring rats.

    PubMed

    Shen, Lang; Liu, Zhongfen; Gong, Jun; Zhang, Li; Wang, Linlong; Magdalou, Jacques; Chen, Liaobin; Wang, Hui

    2014-01-15

    Prenatal ethanol exposure (PEE) induces dyslipidemia and hyperglycemia in fetus and adult offspring. However, whether PEE increases the susceptibility to non-alcoholic fatty liver disease (NAFLD) in offspring and its underlying mechanism remain unknown. This study aimed to demonstrate an increased susceptibility to high-fat diet (HFD)-induced NAFLD and its intrauterine programming mechanisms in female rat offspring with PEE. Rat model of intrauterine growth retardation (IUGR) was established by PEE, the female fetus and adult offspring that fed normal diet (ND) or HFD were sacrificed. The results showed that, in PEE+ND group, serum corticosterone (CORT) slightly decreased and insulin-like growth factor-1 (IGF-1) and glucose increased with partial catch-up growth; In PEE+HFD group, serum CORT decreased, while serum IGF-1, glucose and triglyceride (TG) increased, with notable catch-up growth, higher metabolic status and NAFLD formation. Enhanced liver expression of the IGF-1 pathway, gluconeogenesis, and lipid synthesis as well as reduced expression of lipid output were accompanied in PEE+HFD group. In PEE fetus, serum CORT increased while IGF-1 decreased, with low body weight, hyperglycemia, and hepatocyte ultrastructural changes. Hepatic IGF-1 expression as well as lipid output was down-regulated, while lipid synthesis significantly increased. Based on these findings, we propose a "two-programming" hypothesis for an increased susceptibility to HFD-induced NAFLD in female offspring of PEE. That is, the intrauterine programming of liver glucose and lipid metabolic function is "the first programming", and postnatal adaptive catch-up growth triggered by intrauterine programming of GC-IGF1 axis acts as "the second programming".

  4. Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia.

    PubMed

    Saul, Robert A; Proud, Virginia; Taylor, Harold A; Leroy, Jules G; Spranger, Jurgen

    2005-06-15

    Pacman dysplasia has been previously reported to be a lethal skeletal dysplasia with epiphyseal stippling and osteoclastic overactivity. We report on a sibling of a fetus previously reported as Pacman dysplasia. This infant has a clinical course consistent with mucolipidosis type II (I-cell disease) along with confirmatory biochemical, cytologic, and radiographic evidence. This case expands the phenotypic spectrum of mucolipidosis type II. Having redefined the diagnosis in one of the original cases of Pacman dysplasia, we suggest that what is called Pacman dysplasia could very well be Mucolipidosis type II (ML-II) in other published reports.

  5. Prenatal Treatment of Mosaic Mice (Atp7a mo-ms) Mouse Model for Menkes Disease, with Copper Combined by Dimethyldithiocarbamate (DMDTC)

    PubMed Central

    Lenartowicz, Małgorzata; Krzeptowski, Wojciech; Koteja, Paweł; Chrząścik, Katarzyna; Møller, Lisbeth Birk

    2012-01-01

    Menkes disease is a fatal neurodegenerative disorder in infants caused by mutations in the gene ATP7A which encodes a copper (Cu) transporter. Defects in ATP7A lead to accumulated copper in the small intestine and kidneys and to copper deficiencies in the brain and the liver. The copper level in the kidney in postnatal copper-treated Menkes patients may reach toxic levels. The mouse model, mosaic Atp7a mo-ms recapitulates the Menkes phenotype and die about 15.75±1.5 days of age. In the present study we found that prenatal treatment of mosaic murine fetuses throughout gestation days 7, 11, 15 and 18 with a combination of CuCl2 (50 mg/kg) and dimethyldithiocarbamate (DMDTC) (280 mg/kg) leads to an increase in survival to about 76±25.3 days, whereas treatment with CuCl2 alone (50 mg/kg) only leads to survival for about 21 days ±5 days. These copper-DMDTC treated mutants showed an improved locomotor activity performance and a gain in body mass. In contrast to treatment with CuCl2 alone, a significant increase in the amount of copper was observed in the brain after prenatal copper-DMDTC treatment as well as a decrease in the amount of accumulated copper in the kidney, both leading towards a normalization of the copper level. Although copper-DMDTC prenatal treatment only leads to a small increase in the sub-normal copper concentration in the liver and to an increase of copper in the already overloaded small intestine, the combined results suggest that prenatal copper-DMDTC treatment also should be considered for humans. PMID:22815746

  6. Admission to a dedicated cardiac intensive care unit is associated with decreased resource use for infants with prenatally diagnosed congenital heart disease.

    PubMed

    Johnson, Joyce T; Tani, Lloyd Y; Puchalski, Michael D; Bardsley, Tyler R; Byrne, Janice L B; Minich, L LuAnn; Pinto, Nelangi M

    2014-12-01

    Many factors in the delivery and perinatal care of infants with a prenatal diagnosis of congenital heart disease (CHD) have an impact on outcome and costs. This study sought to determine the modifiable factors in perinatal management that have an impact on postnatal resource use for infants with CHD. The medical records of infants with prenatally diagnosed CHD (August 2006-December 2011) who underwent cardiac surgery before discharge were reviewed. The exclusion criteria ruled out prematurity and intervention or transplantation evaluation before surgery. Clinical characteristics, outcomes, and cost data were collected. Multivariate linear regression models were used to determine the impact of perinatal decisions on hospitalization cost and surrogates of resource use after adjustment for demographic and other risk factors. For the 126 patients who met the study criteria, the median hospital stay was 22 days (range 4-122 days), and the median inflation-adjusted total hospital cost was $107,357 (range $9,746-602,320). The initial admission to the neonatal versus the cardiac intensive care unit (NICU vs. CICU) was independently associated with a 19 % longer hospital stay, a 26 % longer ICU stay, and 47 % more mechanical ventilation days after adjustment for Risk Adjustment for Congenital Heart Surgery, version 1 score, gestation age, genetic abnormality, birth weight, mode of delivery, and postsurgical complications. Weekend versus weekday delivery was not associated with hospital cost or length of hospital stay. For term infants with prenatally diagnosed CHD undergoing surgery before discharge, preoperative admission to the NICU (vs. the CICU) resulted in a longer hospital stay and greater intensive care use. Prenatal planning for infants with CHD should consider the initial place of admission as a modifiable factor for potential lowering of resource use.

  7. The "dark tendon sign" (DTS): a sonographic indicator for idiopathic trigger finger.

    PubMed

    Gruber, Hannes; Peer, Siegfried; Loizides, Alexander

    2011-05-01

    Although the diagnosis of "idiopathic trigger finger" (stenosing tenovaginitis) is normally based on clinical examination alone, to date there is no reliable evaluation defining this idiopathic disease beyond an exclusion of secondary causes or an unnecessary sonographic certification of high-grade impairment. By standardized assessment of 32 patients who retrospectively fulfilled the study inclusion criteria and their comparison to a matched group of volunteers, we defined the diagnostic efficiency of the here newly proposed sonographic dark tendon sign (DTS) alone, of impaired tendon gliding alone and the combination of these two features. Pulley thickness in patients and volunteers was significantly different. The combination of clinically impaired tendon gliding plus the DTS reached a sensitivity and diagnostic efficiency of 100%. We propose this diagnostic combination as the new first line assessment features for the quick definition of idiopathic stenosing tendovaginitis during daily routine

  8. Effects of prenatal exposure to the Dutch famine on adult disease in later life: an overview.

    PubMed

    Roseboom, T J; van der Meulen, J H; Ravelli, A C; Osmond, C; Barker, D J; Bleker, O P

    2001-10-01

    People who were small at birth have been shown to have an increased risk of CHD and chronic bronchitis in later life. These findings have led to the fetal origins hypothesis that proposes that the fetus adapts to a limited supply of nutrients, and in doing so it permanently alters its physiology and metabolism, which could increase its risk of disease in later life. The Dutch famine--though a historical disaster--provides a unique opportunity to study effects of undernutrition during gestation in humans. People who had been exposed to famine in late or mid gestation had reduced glucose tolerance. Whereas people exposed to famine in early gestation had a more atherogenic lipid profile, somewhat higher fibrinogen concentrations and reduced plasma concentrations of factor VII, a higher BMI and they appeared to have a higher risk of CHD. Though the latter was based on small numbers, as could be expected from the relatively young age of the cohort. Nevertheless, this is the first evidence in humans that maternal undernutrition during gestation is linked with the risk of CHD in later life. Our findings broadly support the hypothesis that chronic diseases originate through adaptations made by the fetus in response to undernutrition. The long-term effects of intrauterine undernutrition, however, depend upon its timing during gestation and on the tissues and systems undergoing critical periods of development at that time. Furthermore, our findings suggest that maternal malnutrition during gestation may permanently affect adult health without affecting the size of the baby at birth. This gives the fetal origins hypothesis a new dimension. It may imply that adaptations that enable the fetus to continue to grow may nevertheless have adverse consequences for health in later life. CHD may be viewed as the price paid for successful adaptations to an adverse intra-uterine environment. It also implies that the long-term consequences of improved nutrition of pregnant women will be

  9. The relationship between prenatal exposure to BP-3 and Hirschsprung's disease.

    PubMed

    Huo, Weiwei; Cai, Peng; Chen, Minjian; Li, Hongxing; Tang, Junwei; Xu, Chao; Zhu, Dongmei; Tang, Weibing; Xia, Yankai

    2016-02-01

    Hirschsprung's disease (HSCR) is neonatal intestinal abnormality which derived from the faliure of enteric neural crest cells migration to hindgut during embryogenesis from 5 to 12 weeks. Currenly, the knowledge of environmental factors contributing to HSCR is still scarce. Benzophenone-3 (BP-3) is one of the most widely used UV filters, and has weak estrogen and strong anti-androgenic effects. In order to examine the effect of maternal BP-3 exposure on development of offspring and explore the potential mechanism, we conducted case and control study and in vitro study. In this work, BP-3 concertrations in maternal urine was detected by ultra-high performance liquid chromatography. Besides, we investigated the cytotoxicity and receptor tyrosine kinase (RET) expression in cells exposed to BP-3. The results showed that maternal BP-3 exposure was associated with offspring's HSCR in the population as well as inhibited migration of 293T and SH-SY5Y cells. What's more, we discovered dose-response relationship between RET expression and BP-3 exposure dose, and miR-218 and some other genes involved in SLIT2/ROBO1-miR-218-RET/PLAG1 pathway were also related to BP-3 exposure. Therefore, we deduced that BP-3 influenced cell migration via SLIT2/ROBO1-miR-218-RET/PLAG1 pathway. Our study firstly revealed the relationship between maternal BP-3 exposure and HSCR as well as its potential mechanism.

  10. Outcome of infants with prenatally diagnosed congenital heart disease delivered outside specialist paediatric cardiac centres.

    PubMed

    Anagnostou, Katherine; Messenger, Lisa; Yates, Robert; Kelsall, Wilf

    2013-05-01

    To determine the outcome of neonates with a suspected antenatal diagnosis of congenital heart disease (CHD) who were delivered away from a paediatric cardiothoracic centre and were initially managed in a level 3 Neonatal Intensive Care Unit. An 18-year ongoing study conducted in a single institution. Between 1992 and 2009, 143 fetuses with suspected CHD were identified, and 124 babies were delivered locally. 13 babies with a normal postnatal echocardiogram and six with isolated arrhythmias were excluded from the study. Structural CHD was confirmed in 105 infants; of these, 94 (90%) survived the neonatal period. Of the 11 neonatal deaths, only four of these infants underwent surgery; most had additional risk factors including: prematurity, very low birth weight, and genetic and other structural congenital anomalies. This study demonstrates that appropriately selected infants with antenatally diagnosed CHD can be safely delivered and initially managed in a non-cardiac centre during their neonatal period. Deliveries need to be carefully planned with close collaboration among neonatologists, obstetricians, paediatric cardiologists, mid-wives and parents.

  11. Prenatal factors and infant feeding in relation to risk of benign breast disease in young women.

    PubMed

    Berkey, Catherine S; Rosner, Bernard; Willett, Walter C; Tamimi, Rulla M; Lindsay Frazier, A; Colditz, Graham A

    2015-12-01

    Benign breast disease (BBD) is a well-established risk factor for breast cancer, but little work has considered a girl's early life and her risk for BBD in adulthood. We investigated factors, from pre-conception through infant feeding practices, in relation to subsequent BBD risk in young women. The Growing Up Today Study (GUTS) includes 9032 females, born 1980-1987, who completed questionnaires annually from 1996 through 2001, then 2003, 2005, 2007, 2010, and 2013. In 1996, their mothers provided each participant's birth weight and length, gestational age, biological father's height, and infant feeding factors (e.g., breast-fed, type of formula). In 1999, their mothers reported maternal pre-pregnancy weight and weight gain during index pregnancy. Beginning in 2005, daughters (18 years+) reported whether they had ever been diagnosed with biopsy-confirmed BBD (n = 142 cases, through 2013). Logistic regression estimated associations between early life factors and biopsy-confirmed BBD. Girls whose mother's BMI prior to pregnancy was 20-25 kg/m(2) were at lower risk of BBD as young women (OR = 0.66, p = 0.04, vs. maternal pre-pregnancy BMI < 20). Girls whose mothers gained 20 + pounds (vs. <20 pounds) during pregnancy were at lower risk (among full-term singleton births: OR = 0.48, p = 0.007, if mother gained 20-35 pounds). However, neither birth weight nor BMI at birth were associated with subsequent BBD risk. We found no evidence that infant feeding practices were linked to BBD. A healthy maternal BMI before pregnancy and sufficient weight gain during pregnancy may produce daughters at lower risk for BBD as young women. Further examination of these findings is needed.

  12. Prenatal and maternal characteristics and later risk for coronary heart disease among women.

    PubMed

    Eriksson, Johan G; Kajantie, Eero; Thornburg, Kent; Osmond, Clive

    2016-03-01

    The pace and pathways of early growth have major influences on later health. Coronary heart disease (CHD) is a major killer and kills more women than men, but usually manifests about 10 years later in women. Therefore there are fewer studies of early growth and CHD amongst women than men. The Helsinki Birth Cohort Study includes 9817 women born during 1924-1944. We used national registers to identify hospital admissions and deaths from CHD during 1971-2010. We used a Cox model to obtain hazard ratios (HRs) for CHD. Altogether 967 women (9.9%) developed CHD. Socioeconomic factors were strongly and inversely associated with CHD. Neither maternal age nor body mass index (BMI) was associated with CHD in the daughters. There were inverse associations of birth weight (p = 0.07) and length (p = 0.02) with CHD in adult life. We divided the mothers according to parity. Daughters of primiparous women had lower birth weight and shorter birth length than the offspring of multiparous women (both p-values < 0.001). Birth weight (p = 0.008), birth length (p = 0.05) and birth BMI (p = 0.02) were all inversely associated with CHD. Among first-born women, a 1 kg increase in birth weight was associated with a 25% lower risk for CHD (HR 0.75, 95% confidence interval (CI) 0.60-0.93). The findings changed little after adjustment for socioeconomic factors. Among later-born women none of the birth characteristics was associated with CHD. Small birth size is associated with CHD among women. First-born women with high birth weight appear to be at lower risk for CHD compared with later born women. © The European Society of Cardiology 2015.

  13. Different Sonographic Faces of Ectopic Pregnancy

    PubMed Central

    Chanana, Charu; Gupta, Nishant; Bansal, Itisha; Hooda, Kusum; Sharma, Pranav; Gupta, Mohit; Gandhi, Darshan; Kumar, Yogesh

    2017-01-01

    Vaginal bleeding in the first trimester has wide differential diagnoses, the most common being a normal early intrauterine pregnancy, with other potential causes including spontaneous abortion and ectopic pregnancy. The incidence of ectopic pregnancy is approximately 2% of all reported pregnancies and is one of the leading causes of maternal mortality worldwide. Clinical signs and symptoms of ectopic pregnancy are often nonspecific. History of pelvic pain with bleeding and positive β-human chorionic gonadotropin should raise the possibility of ectopic pregnancy. Knowledge of the different locations of ectopic pregnancy is of utmost importance, in which ultrasound imaging plays a crucial role. This pictorial essay depicts sonographic findings and essential pitfalls in diagnosing ectopic pregnancy. PMID:28299234

  14. Different Sonographic Faces of Ectopic Pregnancy.

    PubMed

    Chanana, Charu; Gupta, Nishant; Bansal, Itisha; Hooda, Kusum; Sharma, Pranav; Gupta, Mohit; Gandhi, Darshan; Kumar, Yogesh

    2017-01-01

    Vaginal bleeding in the first trimester has wide differential diagnoses, the most common being a normal early intrauterine pregnancy, with other potential causes including spontaneous abortion and ectopic pregnancy. The incidence of ectopic pregnancy is approximately 2% of all reported pregnancies and is one of the leading causes of maternal mortality worldwide. Clinical signs and symptoms of ectopic pregnancy are often nonspecific. History of pelvic pain with bleeding and positive β-human chorionic gonadotropin should raise the possibility of ectopic pregnancy. Knowledge of the different locations of ectopic pregnancy is of utmost importance, in which ultrasound imaging plays a crucial role. This pictorial essay depicts sonographic findings and essential pitfalls in diagnosing ectopic pregnancy.

  15. The sonographic features of malignant mediastinal lymph nodes and a proposal for an algorithmic approach for sampling during endobronchial ultrasound.

    PubMed

    Alici, Ibrahim Onur; Yılmaz Demirci, Nilgün; Yılmaz, Aydın; Karakaya, Jale; Özaydın, Esra

    2016-09-01

    There are several papers on the sonographic features of mediastinal lymph nodes affected by several diseases, but none gives the importance and clinical utility of the features. In order to find out which lymph node should be sampled in a particular nodal station during endobronchial ultrasound, we investigated the diagnostic performances of certain sonographic features and proposed an algorithmic approach. We retrospectively analyzed 1051 lymph nodes and randomly assigned them into a preliminary experimental and a secondary study group. The diagnostic performances of the sonographic features (gray scale, echogeneity, shape, size, margin, presence of necrosis, presence of calcification and absence of central hilar structure) were calculated, and an algorithm for lymph node sampling was obtained with decision tree analysis in the experimental group. Later, a modified algorithm was applied to the patients in the study group to give the accuracy. The demographic characteristics of the patients were not statistically significant between the primary and the secondary groups. All of the features were discriminative between malignant and benign diseases. The modified algorithm sensitivity, specificity, and positive and negative predictive values and diagnostic accuracy for detecting metastatic lymph nodes were 100%, 51.2%, 50.6%, 100% and 67.5%, respectively. In this retrospective analysis, the standardized sonographic classification system and the proposed algorithm performed well in choosing the node that should be sampled in a particular station during endobronchial ultrasound. © 2015 John Wiley & Sons Ltd.

  16. Sonographic Biometry of Normal Kidney Dimensions among School-age Children in Nsukka, Southeast Nigeria

    PubMed Central

    Eze, CU; Agwu, KK; Ezeasor, DN; Agwuna, KK; Aronu, AE; Mba, EI

    2014-01-01

    Background: Some kidney diseases are usually associated with changes in kidney size. Objective: To determine sonographically the normal limits and percentile curves of the kidney dimensions according to age, gender and somatometric parameters among school-age children. Methods: A prospective cross-sectional research design and convenience sampling method were utilized. Participants included 947 normal subjects (496 boys and 451 girls) aged 6–17 years old. The sonographic examination was performed on a Shenzhen DP-1100 machine with 3.5 MHz convex transducer. Longitudinal and transverse dimensions of the kidneys were obtained in coronal plane with the subject in the supine or left lateral decubitus position. Results: The means of right and left kidney lengths in mm were 79.6 ± 8.1 and 81.6 ± 8.3, respectively while those of the right and left kidney widths in mm were 35.03 ± 3.6 and 35.09 ± 3.6, respectively. Dimensions of the kidneys were not statistically different in boys and girls (p > 0.05). There was a statistically significant difference between right and left kidney length (p < 0.05). Height correlated best with both kidney lengths. Thus the normal limits, prediction models and percentile curves of kidney lengths were established with respect to height. Conclusion: Sonographic determination of pathologic changes in the size of the kidney necessitates knowing the normal ranges of its length especially with respect to height in school-age children. PMID:25303194

  17. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA

    PubMed Central

    Chitty, Lyn S; Khalil, Asma; Barrett, Angela N; Pajkrt, Eva; Griffin, David R; Cole, Tim J

    2013-01-01

    Objective To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. Methods Fetuses with a confirmed diagnosis of thanatophoric dysplasia were ascertained, records reviewed, sonographic features and measurements determined. Charts of fetal size were then constructed using the LMS (lambda-mu-sigma) method and compared with charts used in normal pregnancies and those complicated by achondroplasia. Cases in this cohort referred to our Regional Genetics Laboratory for molecular diagnosis using cffDNA were identified and results reviewed. Results Forty-two cases were scanned in our units. Commonly reported sonographic features were very short and sometimes bowed femora, frontal bossing, cloverleaf skull, short fingers, a small chest and polyhydramnios. Limb shortening was obvious from as early as 13 weeks' gestation, with minimal growth after 20 weeks. Analysis of cffDNA in three of these pregnancies confirmed the presence of the c.742C>CT (p.Arg248Cys) or the c.1948A>AG (p.Lys650Glu) mutation in the fibroblast growth factor receptor 3 gene. Conclusion These data should improve the accuracy of the sonographic diagnosis of thanatophoric dysplasia and have implications for reliable and safe targeted molecular confirmation using cffDNA. © 2013 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd. PMID:23408600

  18. Leiomyoma of the foot: sonographic features with pathologic correlation.

    PubMed

    Stock, Harlan; Perino, Giorgio; Athanasian, Edward; Adler, Ronald

    2011-02-01

    Leiomyomas arising outside of the uterus and gastrointestinal tract are uncommon, though these benign soft tissue neoplasms have been reported in the lower extremity and foot. To our knowledge, the sonographic appearance of a lower extremity leiomyoma has not been described in the literature. This report involves a case of leiomyoma of the foot and its sonographic imaging features. MR correlative imaging and histopathology are also provided.

  19. [Prenatal diagnosis. II. Importance of ultrasonographic markers in prenatal diagnosis of chromosome abnormalities].

    PubMed

    Prieto-Carrasquero, M; Molero, A; Carrasquero, N; Del Villar, A; González-Ferrer, S; Rojas, A; Brito, J; Mena, R; González, L; Pérez, F; Alvarez, F; Quintero, M; Fulcado, W

    1998-12-01

    The Medical Genetic Unit of the University of Zulia (MGUUZ) has developed a Prenatal Diagnosis Program (PDP) since January-1993, in which Genetic Risk Factors are determined in couples who request prenatal genetic counseling. In this program, different prenatal diagnostic procedures are performed to detect congenital defects during intrauterine life. One of these procedures is the Fetal Sonogram (FS). FS is a non invasive technique which permits the prenatal diagnosis of many genetic dysmorphic syndromes. Through the search of abnormal specific characteristics in the fetus, chromosomopathies may be suspected. These findings are named "Echosonographic Markers of Chromosomal Abnormalities" (EMCA). During three years (January-1993 to December-1996), patients attended in the PDP included 321 pregnant women in which 312 FS were performed. Abnormal outcomes were 22 (17 with isolated congenital malformations and 5 with EMCA). Only one fetus with chromosome abnormality (46,XX21q-) could not be detected by FS. The goals of this paper are: 1) to report 5 patients with sonographic markers suggestive of chromosomal abnormalities and 2) to show the FS usefulness in prenatal diagnosis of chromosompathies. We conclude that, in the search of the EMCA the FS should be offered systematically to all pregnant women without recognizable genetic risk. They are the main group with optimal reproductive age and in consequence, with the possibility of having a relatively major number of conception outcomes with congenital defects, with or without chromosomic etiology. The majority of those defects can be detected by FS and could allow us to select the patients in which the use of an invasive prenatal diagnostic procedure could be justified.

  20. Sonographic investigations of the gastrointestinal tract of granivorous birds.

    PubMed

    Krautwald-Junghanns, Maria-Elisabeth; Stahl, Anja; Pees, Michael; Enders, Frank; Bartels, Thomas

    2002-01-01

    This article describes the sonographic examination of the normal gastrointestinal tract of granivorous birds. Preliminary tests with dead birds were performed to get an idea of the sonographic echotexture of the avian gastrointestinal tract. Later, clinically healthy seedeaters of different weights were examined sonographically. As equipment a convex microcurved scanner with a particularly small coupling surface and an adjustable frequency from 5.5-7.5 MHz was used. For the investigation of the gastrointestinal tract, six sonographic approaches are described. After a starving time of 18 hours in the granivorous birds and water input, the best sonographic image quality could be obtained. Using this method, the crop, ventriculus, intestines, and cloaca could be demonstrated sonographically; whereas, it was not possible to visualize the normal proventriculus in granivorous birds. In contrast to mammals, the different layers of the wall of the gastrointestinal tract could not be visualized with the equipment used. Motility of individual parts of the gastrointestinal tract (GI tract), however, could be well demonstrated.

  1. Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis.

    PubMed

    Bonnefoy, O; Delbosc, J M; Maugey-Laulom, B; Lacombe, D; Gaye, D; Diard, F

    2006-01-01

    We report the first case of sporadic hypochondroplasia diagnosed in utero by computed tomography (CT) three-dimensional (3D) imaging and molecular analysis at 38 weeks' gestation. Prenatal sonographic examinations performed at 32 and 35 weeks' gestation revealed a rhizomelic shortness of the long bones (femur and humerus) with macrocephaly. Based on these findings, a nonlethal form of skeletal dysplasia was suspected and a multislice CT imaging with 3D reconstruction was performed depicting skeletal abnormalities which suggested hypochondroplasia. The prenatal diagnosis was confirmed by DNA mutation analysis of the fibroblast growth receptor 3 gene. (c) 2006 S. Karger AG, Basel

  2. Prenatal diagnosis of periventricular nodular heterotopia in borderline ventriculomegaly using sonography and magnetic resonance imaging.

    PubMed

    Sahinoglu, Zeki; Yapicier, Ozlem; Ozcan, Nahit

    2016-10-01

    Periventricular nodular heterotopia (PNH) is usually missed on prenatal sonographic examinations, even on targeted scans. Irregular ventricular walls on axial view and irregular square-shaped lateral ventricles on coronal view are suggestive of PNH in the early third trimester. To achieve an early prenatal diagnosis, it is important to keep in mind the possible coexistence of PNH with brain malformations such as ventriculomegaly, posterior fossa anomalies, or agenesis of corpus callosum. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 44:510-513, 2016. © 2016 Wiley Periodicals, Inc.

  3. Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations.

    PubMed

    Turco, A E; Padovani, E M; Chiaffoni, G P; Peissel, B; Rossetti, S; Marcolongo, A; Gammaro, L; Maschio, G; Pignatti, P F

    1993-05-01

    We report a case of an unusual prenatal presentation of polycystic kidneys associated with multiple skeletal limb defects, including polydactyly, syndactyly, bilateral agenesis of the tibia, and club foot. The ultrasonographic picture was consistent with a diagnosis of polycystic kidney disease, either the adult onset autosomal dominant type (ADPKD) or the early onset autosomal recessive form (ARPKD). However, there was a positive family history for ADPKD. Linkage analysis was performed in 10 family members, of whom four were affected, using six flanking DNA markers tightly linked to the PKD1 locus on chromosome 16p, and one marker linked to the putative PKD2 locus on chromosome 2p. Lod score determinations indicated that the affected gene in the family is most likely PKD1. The patient inherited the disease linked haplotype from his affected mother.

  4. Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations.

    PubMed Central

    Turco, A E; Padovani, E M; Chiaffoni, G P; Peissel, B; Rossetti, S; Marcolongo, A; Gammaro, L; Maschio, G; Pignatti, P F

    1993-01-01

    We report a case of an unusual prenatal presentation of polycystic kidneys associated with multiple skeletal limb defects, including polydactyly, syndactyly, bilateral agenesis of the tibia, and club foot. The ultrasonographic picture was consistent with a diagnosis of polycystic kidney disease, either the adult onset autosomal dominant type (ADPKD) or the early onset autosomal recessive form (ARPKD). However, there was a positive family history for ADPKD. Linkage analysis was performed in 10 family members, of whom four were affected, using six flanking DNA markers tightly linked to the PKD1 locus on chromosome 16p, and one marker linked to the putative PKD2 locus on chromosome 2p. Lod score determinations indicated that the affected gene in the family is most likely PKD1. The patient inherited the disease linked haplotype from his affected mother. Images PMID:8320707

  5. Prenatal diagnosis of Pierre Robin Sequence: accuracy and ability to predict phenotype and functional severity.

    PubMed

    Lind, Katia; Aubry, Marie-Cécile; Belarbi, Nadia; Chalouhi, Christel; Couly, Gérard; Benachi, Alexandra; Lyonnet, Stanislas; Abadie, Véronique

    2015-09-01

    To assess the outcome of fetuses who had sonographic features suggestive of Pierre Robin Sequence (PRS). All prenatal ultrasounds that mentioned 'posterior cleft palate', or 'micro or retrognathia' or 'PRS' over 13 and 20 years, respectively, at two obstetrical centers were reviewed. Medical records for children with isolated PRS monitored over 20 years at a PRS referral center for prenatal anomalies and the severity of neonatal feeding and respiratory functional disorders were utilized for comparison. From a prenatal ultrasound database of 166 000 cases, 157 had one or more of the sonographic signs suggestive of PRS and had follow-up available. Of them, 33 (21%) had confirmed PRS, 9 (6%) were normal and 115 (73%) had chromosomal aberrations, associated malformations or neurological anomalies. Visualization of a posterior cleft palate in addition to retro-micrognathia had a positive predictive value of 100% for PRS. The distribution of functional severity grades was similar in cases suspected prenatally as in 238 cases of PRS followed in the referral center in Necker Hospital. Only a minority of cases of fetal retrognathia have complete PRS; the majority have other severe conditions. Prenatal prediction of functional severity of isolated PRS is not possible. © 2015 John Wiley & Sons, Ltd.

  6. Reference ranges of kidney dimensions in term newborns: sonographic measurements.

    PubMed

    Erdemir, Aydin; Kahramaner, Zelal; Arik, Bilal; Bilgili, Gokmen; Tekin, Mehmet; Genc, Yeliz

    2014-11-01

    Ultrasonographic measurement of kidney dimensions is important in evaluation of renal disease during the neonatal period, when renal abnormalities are common and renal size rapidly changes with age. To determine the reference ranges of kidney dimensions in newborns and to provide a reference chart for daily practice. In this prospective study, kidney dimensions were evaluated in 385 healthy newborns with a gestational age ≥37 weeks. Each neonate seen at an obstetrics clinic and neonatal intensive care unit was examined with sonography within the first week of life. Relationships of all dimensions with gender, gestational age, height and weight were statistically analyzed. All dimensions of the kidneys were smaller in girls than in boys (P < 0.05). The dimensions of the left kidney were larger than those in the right kidney in both genders (P < 0.01). Longitudinal and anteroposterior dimensions of the right and left kidneys showed no correlation with the gestational age in either gender. The dimensions correlated with the height in boys (P < 0.01), while no correlation was seen between the dimensions and height in girls (P < 0.05). Weight had the best correlation with all dimensions in both genders. The reference values of kidney lengths and diagrams from this study may be useful in the sonographic evaluation of kidneys in newborns.

  7. Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses.

    PubMed

    Ding, Yuan; Li, Xiyuan; Liu, Yupeng; Hua, Ying; Song, Jinqing; Wang, Liwen; Li, Mengqiu; Qin, Yaping; Yang, Yanling

    2016-04-01

    Niemann-Pick disease type A (NPD-A) is a rare autosomal recessive lysosomal storage disorder caused by acid sphingomyelinase deficiency. Only a few cases have been documented in mainland China, and prenatal diagnosis has not been performed to date. In this study, the clinical and laboratory features of four Chinese patients with early-onset NPD-A were summarized. Four patients with NPD-A were the firstborns of non-consanguineous parents from four unrelated Chinese families. Bone marrow analysis, acid sphingomyelinase assay and genetic studies were performed. SMPD1 gene studies on amniocytes were performed for the prenatal diagnosis of four fetuses from three families. Four patients were admitted at the age of 1-10 months due to jaundice, hepatosplenomegaly and psychomotor retardation. Liver histopathological analysis revealed glucolipid accumulation. Massive foamy histiocytes were found in the bone marrow. Acid sphingomyelinase activities of peripheral blood leukocytes were significantly decreased (4.05-21.9 nmol/h/mg protein, normal range 216.1-950.9 nmol/h/mg protein). Seven novel mutations (c.518-519insT, c.562_563insC, c.792Gdel, c.949G>A, c.1487_1499delACCGTGTGTACCA, c.1495T>C and c.1670T>C) of the SMPD1 gene were identified in four patients. Only one fetus had two mutations of the SMPD1 gene of amniocytes. The results suggested that the fetus was affected by NPD-A. The mother chose artificial abortion. The other three fetuses were not affected by NPD-A. No mutation of the SMPD1 gene was detected in the cultured amniocytes from the mothers. Postnatal genetic analysis and normal development of the three infants confirmed the prenatal diagnosis. Seven novel mutations associated with NPD-A were identified in the Chinese population. Prenatal diagnosis for four fetuses of three families was successfully performed by amniocyte gene analysis. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  8. Accuracy of sonographically guided and palpation guided scaphotrapeziotrapezoid joint injections.

    PubMed

    Smith, Jay; Brault, Jeffrey S; Rizzo, Marco; Sayeed, Yusef A; Finnoff, Jonathan T

    2011-11-01

    The purpose of this study was to determine and compare the accuracies of sonographically guided and palpation guided scaphotrapeziotrapezoid (STT) joint injections in a cadaveric model. A clinician with 6 years of experience performing sonographically guided procedures injected 1.0 mL of a diluted latex solution into the STT joints of 20 unembalmed cadaveric wrist specimens using a palmar approach. At a minimum of 24 hours after injection, an experienced clinician specializing in hand care completed palpation guided injections in the same specimens using a dorsal approach and 1 mL of a different-colored latex. A fellowship-trained hand surgeon blinded to the injection technique then dissected each specimen to assess injection accuracy. Injections were graded as accurate if the colored latex was found in the STT joint, whereas inaccurate injections resulted in no latex being found in the joint. All sonographically guided injections were accurate (100%; 95% confidence interval, 81%-100%), whereas only 80% of palpation guided injections were accurate (95% confidence interval, 61%-99%). Sonographically guided injections were significantly more accurate than palpation guided injections, as determined by the ability to deliver latex into the joint (P < .05). Sonographic guidance can be used to inject the STT joint with a high degree of accuracy and is more accurate than palpation guidance within the limits of this study design. Clinicians should consider using sonographic guidance to perform STT joint injections when precise intra-articular placement is desired. Further clinical investigation examining the role of sonographically guided STT joint injections in the treatment of patients with radial wrist pain syndromes is warranted.

  9. Pallister-Killian syndrome: difficulties of prenatal diagnosis.

    PubMed

    Doray, Bérénice; Girard-Lemaire, Françoise; Gasser, Bernard; Baldauf, Jean-Jacques; De Geeter, Bernard; Spizzo, Michèle; Zeidan, Charles; Flori, Elisabeth

    2002-06-01

    The first prenatal diagnosis of Pallister-Killian syndrome (PKS) was reported by Gilgenkrantz et al. in1985. Since this report, about 60 prenatal cases have been reported but both sonographic and cytogenetic diagnoses remain difficult. Although ultrasound anomalies such as congenital diaphragmatic hernia, polyhydramnios and rhizomelic micromelia in association with fetal overgrowth are very suggestive of the syndrome, they are inconstant and they may even be absent. The mosaic distribution of the supernumerary isochromosome 12p greatly increases these difficulties. No prenatal cytogenetic technique is sensitive enough to ensure prenatal diagnosis and false-negative results have been described on fetal blood, chorionic villi and amniocentesis. We report here two prenatal cases of PKS which illustrate the great variability of the fetal phenotype. In reviewing the 63 reported cases, we attempt to determine ultrasound indicators of the syndrome and to define a cytogenetic strategy. In cases where ultrasound indicators are present, our proposal is first to perform chorionic villus or placental sampling and then amniocentesis when the first cytogenetic result is normal. Fetal blood sampling is the least indicated method because of the low frequency of the isochromosome in lymphocytes. In this cytogenetic strategy, fluorescent in situ hybridization (FISH) and especially interphase FISH on non-cultured cells increases the probability or identifying the isochromosome. A misdiagnosis remains possible when ultrasound is not contributory; the identification of new discriminating ultrasound indicators would be very helpful in this context.

  10. The spectrum of sonographic findings of fibroadenoma of the breast.

    PubMed

    Jackson, V P; Rothschild, P A; Kreipke, D L; Mail, J T; Holden, R W

    1986-01-01

    There are a number of sonographic findings seen in fibroadenoma of the breast. In a retrospective study, we examined the biopsy results of 59 masses given the sonographic diagnosis of fibroadenoma. We also reviewed the sonograms of an additional 26 biopsy-proven fibroadenomas that were not diagnosed as such with ultrasound. The ultrasound diagnosis was correct in 50 of 76 fibroadenomas (65.8%). Only 12 of the 76 biopsy-proven fibroadenomas had the classic sonographic appearance of a smooth round or oval mass with homogeneous internal echoes. Fourteen fibroadenomas were not visible on the sonograms, even in retrospect. The remaining 50 biopsy-proven fibroadenomas demonstrated one or more "atypical" signs of border irregularity, lobulation, inhomogeneous internal echo texture, or posterior shadowing. There were nine sonographic false positives: five patients had other benign lesions on histology, and four masses believed to be sonographically compatible with fibroadenoma were found to be carcinomas. While breast sonography is frequently a useful modality for breast mass detection, particularly as an adjunct to x-ray mammography, the common overlap in characteristics of benign and malignant masses makes histologic evaluation of all solid masses essential.

  11. Sonographic spectrum of first-trimester fetal cephalocele: review of 35 cases.

    PubMed

    Sepulveda, W; Wong, A E; Andreeva, E; Odegova, N; Martinez-Ten, P; Meagher, S

    2015-07-01

    of the biparietal diameter and nuchal translucency, respectively. However, the sonographic features are highly variable. A significant proportion of cases are associated with genetic or disruptive syndromes. Prenatal diagnosis of cephalocele in the first trimester was associated with a high rate of termination of pregnancy and early intrauterine fetal demise. Only one fetus in this series survived and is neurologically intact; therefore, the prognosis of this condition remains poor. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  12. Prenatal pseudocysts of the germinal matrix in preterm infants.

    PubMed

    Ramenghi, L A; Domizio, S; Quartulli, L; Sabatino, G

    1997-05-01

    Sonographic characteristics of germinal-matrix (PGM) pseudocysts of prenatal origin detected on cranial ultrasound in preterm newborns were correlated with their outcomes. PGM cysts were classified as typical or atypical, according to their location. Typical PGM cysts were present at the head of the caudate nucleus or slightly medially, adjacent to the foramen of Monro. Cysts were defined as atypical when they were located subependymally elsewhere. Only one infant of 16 with a typical PGM cyst presented with psychomotor retardation. His cerebral scan also showed subependymal calcifications due to cytomegalovirus infection. Three babies had cysts in the frontal periventricular zones (atypical PGM cyst). They had negative cranial MRI (12-15 months of age) and normal neurological follow-up (24 months). In conclusion, isolated prenatal PGM cysts in preterm infants correlate with a normal outcome.

  13. Low utilization of prenatal and pre-implantation genetic diagnosis in Huntington disease - risk discounting in preventive genetics.

    PubMed

    Schulman, J D; Stern, H J

    2015-09-01

    Huntington disease (HD) is a late-onset, fatal neurodegenerative disorder caused by a (CAG) triplet repeat expansion in the Huntingtin gene that enlarges during male meiosis. In 1996 in this journal, one of us (J. D. S.) presented a methodology to perform pre-implantation genetic diagnosis in families at-risk for HD without revealing the genetic status of the at-risk parent. Despite the introduction of accurate prenatal and pre-implantation genetic testing which can prevent transmission of the abnormal HD gene in the family permanently, utilization of these options is extremely low. In this article, we examine the decision-making process regarding genetic testing in families with HD and discuss the possible reasons for the low uptake among this group.

  14. Fetal sonographic diagnosis of aortic arch anomalies.

    PubMed

    Yoo, S-J; Min, J-Y; Lee, Y-H; Roman, K; Jaeggi, E; Smallhorn, J

    2003-11-01

    Aortic arch anomalies refer to congenital abnormalities of the position or branching pattern, or both of the aortic arch. Although aortic arch anomalies are not uncommon, reports on their prenatal diagnosis are scarce. Insight into the hypothetical arch model is crucial to understanding anomalies of the aortic arch in the fetus. Recognition of the trachea, three major vessels, ductus arteriosus and descending aorta in the axial views of the upper mediastinum is necessary for a complete fetal cardiac assessment. Clues to aortic arch anomalies include abnormal position of the descending aorta, absence of the normal 'V'-shaped confluence of the ductal and aortic arches, a gap between the ascending aorta and main pulmonary artery in the three-vessel view, and an abnormal vessel behind the trachea with or without a vascular loop or ring around the trachea. Meticulous attention to anatomic landmarks will lead to successful prenatal diagnosis of important vascular rings making early postnatal management possible. Copyright 2003 ISUOG. Published by John Wiley & Sons, Ltd.

  15. Sonographic assessment of fatty liver: intraobserver and interobserver variability.

    PubMed

    Cengiz, Mustafa; Sentürk, Senem; Cetin, Bulent; Bayrak, Aylin Hasanefendioğlu; Bilek, Senem Uysal

    2014-01-01

    Non-alcoholic fatty liver disease (NAFLD) is a common liver disease worldwide and ultrasonography is widely used in the diagnosis and the follow-up we purposed to assess intraobserver and interobserver variability in the sonographic evaluation of the existence and steatosis grades of NAFLD. Alanine aminotransferase (ALT) and aspartate aminotransferase (AST) levels and AST to ALT (AST/ALT) ratio were compared between the grades of hepatosteatosis. Hepatic ultrasonography (US) examinations consisted of 5-10 static images of 113 successive adult patients, whose records were in the picture archiving and communication system (PACS) of our hospital were retrospectively evaluated by two experienced radiologists. Hepatic images were graded into 4 groups; as normal, mild, moderate or severe hepatic steatosis. Evaluation of hepatic steatosis of the same set of images was repeated after one month under the same conditions. Interobserver and intraobserver agreement was assessed by using kappa (κ) statistics. In each group, the percentage of individuals with high ALT and/or AST, or AST/ALT ratio over 1 was calculated. The intraobserver agreement was 51%, fair kappa (κ=0.356) for observer 1; and 68%, moderate (κ=0.591) for observer 2. The interobserver agreements in the initial and second readings were 39% and 40%, fair (κ=0.208) and (κ=0.225), respectively. Elevations of ALT and/or AST levels were similar between groups depending on the degree of hepatosteatosis among the patients. Visual assessment of NAFLD by ultrasonography has substantial interobserver variability, and reproducibility of results is limited. More objective imaging modalities are needed to evaluate the degree of hepatosteatosis.

  16. Prenatal Genetic Diagnostic Tests

    MedlinePlus

    ... disorders and mutations. Only embryos that do not test positive for the disorders are transferred. How are the cells analyzed in prenatal diagnostic testing? A number of technologies are used in prenatal diagnostic testing. Your obstetrician ...

  17. Meckel-Gruber syndrome. Importance of prenatal diagnosis.

    PubMed

    Nyberg, D A; Hallesy, D; Mahony, B S; Hirsch, J H; Luthy, D A; Hickok, D

    1990-12-01

    Prenatal sonographic findings are reported in six fetuses with the Meckel-Gruber syndrome to illustrate the variety of sonographic findings associated with this disorder and to emphasize the importance of prenatal sonography in helping to establish the correct diagnosis. All six fetuses demonstrated evidence of renal cystic dysplasia. In five cases the kidneys were large and echogenic, demonstrating small discrete cysts in the range of 2 to 5 mm. The remaining fetus demonstrated unilateral renal cystic dysplasia and contralateral renal agenesis. Oligohydramnios was noted in all cases and was evident as early as 14 weeks. An occipital cephalocele was demonstrated on sonography in each case although the size and contents of the cephalocele varied significantly. Two fetuses, both in the same family, also demonstrated a cystic mass in the posterior fossa and partial absence of the cerebellum consistent with a Dandy-Walker variant or cerebellar hypoplasia. The concurrence of marked oligohydramnios and bilateral severe renal anomalies should initiate a search for anomalies of the central nervous system indicative of the Meckel-Gruber syndrome. Recurrence of Meckel-Gruber syndrome may be evaluated as soon as 14 weeks, but it may not be reliably excluded until 20 weeks.

  18. Alterations in glucocorticoid negative feedback following maternal Pb, prenatal stress and the combination: A potential biological unifying mechanism for their corresponding disease profiles

    SciTech Connect

    Rossi-George, A.; Virgolini, M.B.; Weston, D.; Cory-Slechta, D.A.

    2009-01-01

    Combined exposures to maternal lead (Pb) and prenatal stress (PS) can act synergistically to enhance behavioral and neurochemical toxicity in offspring. Maternal Pb itself causes permanent dysfunction of the body's major stress system, the hypothalamic pituitary adrenal (HPA) axis. The current study sought to determine the potential involvement of altered negative glucocorticoid feedback as a mechanistic basis of the effects in rats of maternal Pb (0, 50 or 150 ppm in drinking water beginning 2 mo prior to breeding), prenatal stress (PS; restraint on gestational days 16-17) and combined maternal Pb + PS in 8 mo old male and female offspring. Corticosterone changes were measured over 24 h following an i.p. injection stress containing vehicle or 100 or 300 {mu}g/kg (females) or 100 or 150 {mu}g/kg (males) dexamethasone (DEX). Both Pb and PS prolonged the time course of corticosterone reduction following vehicle injection stress. Pb effects were non-monotonic, with a greater impact at 50 vs. 150 ppm, particularly in males, where further enhancement occurred with PS. In accord with these findings, the efficacy of DEX in suppressing corticosterone was reduced by Pb and Pb + PS in both genders, with Pb efficacy enhanced by PS in females, over the first 6 h post-administration. A marked prolongation of DEX effects was found in males. Thus, Pb, PS and Pb + PS, sometimes additively, produced hypercortisolism in both genders, followed by hypocortisolism in males, consistent with HPA axis dysfunction. These findings may provide a plausible unifying biological mechanism for the reported links between Pb exposure and stress-associated diseases and disorders mediated via the HPA axis, including obesity, hypertension, diabetes, anxiety, schizophrenia and depression. They also suggest broadening of Pb screening programs to pregnant women in high stress environments.

  19. Prenatal diagnosis of complete atrioventricular block associated with structural heart disease: combined experience of two tertiary care centers and review of the literature.

    PubMed

    Jaeggi, E T; Hornberger, L K; Smallhorn, J F; Fouron, J-C

    2005-07-01

    To review the pattern of presentation, management and outcome of fetal complete atrioventricular block (CAVB) associated with major structural congenital heart disease (CHD), when compared to isolated CAVB. Retrospective analysis of the medical records and echocardiograms of all CAVB cases, diagnosed prenatally at two tertiary care centers between the years 1990 and 2002. Of a total of 59 consecutive fetal cases of CAVB, 24 (41%) had underlying major CHD, mainly left isomerism (n = 18) and congenitally corrected transposition of the great arteries (cc-TGA) (n = 3). When compared to isolated CAVB (n = 35), cases with CHD were detected earlier (21 +/- 6 vs. 26 +/- 6 weeks; P < 0.02) and-despite comparable heart rates-more often had fetal hydrops (38% vs. 9%; P < 0.02), while pregnancy continuation (66% vs. 94%; P < 0.02) or prenatal treatment (19% vs. 64%; P < 0.001) was less likely. Of 16 CHD cases with pregnancy continuation, beta-inotropic treatment of fetal bradycardia was attempted in three cases: all had left isomerism and died early postnatally. Livebirth and 1-year survival rates of CAVB with CHD were 56% and 19%, respectively, when compared to isolated CAVB with 88% and 75%, respectively (P < 0.0001). The four neonatal survivors (one left isomerism, three cc-TGA) had heart rates persistently > 60 bpm throughout gestation and 3/4 underwent a biventricular repair. Fetal CAVB with CHD continues to be associated with a poor outcome, in particular in the presence of left isomerism and fetal heart rates < 60 bpm. Copyright (c) 2005 ISUOG.

  20. Does appendiceal diameter change with age? A sonographic study.

    PubMed

    Coyne, Sarah M; Zhang, Bin; Trout, Andrew T

    2014-11-01

    The purposes of this study were to determine whether age-related changes in appendiceal diameter identified on CT and pathology are apparent on sonography and to assess the relationship between normal appendiceal diameter and patient-specific factors. Ultrasound examinations from 388 unique pediatric patients with normal appendixes, evenly distributed by age, were reviewed. Appendiceal diameter and wall thickness were correlated with patient age, sex, height, weight, and presence of enlarged lymph nodes. Mean (± SD) anteroposterior and transverse appendiceal diameters were 4.4 ± 0.9 and 5.1 ± 1.0 mm, respectively. Appendiceal diameter was normally distributed across the population but was not significantly associated with age. Centers for Disease Control and Prevention (CDC) weight percentile for age was the only statistically significant patient-specific predictor of transverse diameter (p = 0.001) and approached significance for anteroposterior diameter (p = 0.051). The presence of enlarged lymph nodes was a significant predictor of anteroposterior diameter (p = 0.029) and approached significance for transverse diameter (p = 0.07). Wall thickness was normally distributed across the population and was significantly associated with age (p = 0.011; effect size, -0.05 mm/y). Appendiceal diameter measured on ultrasound is normally distributed in children and does not depend on age. Age-dependent diagnostic cutoffs for normal sonographic diameter are thus not needed. There is, however, a relationship between age and appendiceal wall thickness, suggesting the need for age-dependent diagnostic values if this criteria are to be used to diagnose appendicitis. Although the CDC weight percentile for age and the presence of enlarged lymph nodes affect appendiceal diameter on ultrasound, these effects are small and of doubtful clinical significance.

  1. Prenatal and Perinatal Determinants of Lung Health and Disease in Early Life: A National Heart, Lung, and Blood Institute Workshop Report.

    PubMed

    Manuck, Tracy A; Levy, Philip T; Gyamfi-Bannerman, Cynthia; Jobe, Alan H; Blaisdell, Carol J

    2016-05-02

    Human lung growth and development begins with preconception exposures and continues through conception and childhood into early adulthood. Numerous environmental exposures (both positive and negative) can affect lung health and disease throughout life. Infant lung health correlates with adult lung function, but significant knowledge gaps exist regarding the influence of preconception, perinatal, and postnatal exposures on general lung health throughout life. On October 1 and 2, 2015, the National Heart, Lung, and Blood Institute convened a group of extramural investigators to develop their recommendations for the direction(s) for future research in prenatal and perinatal determinants of lung health and disease in early life and to identify opportunities for scientific advancement. They identified that future investigations will need not only to examine abnormal lung development, but also to use developing technology and resources to better define normal and/or enhanced lung health. Birth cohort studies offer key opportunities to capture the important influence of preconception and obstetric risk factors on lung health, development, and disease. These studies should include well-characterized obstetrical data and comprehensive plans for prospective follow-up. The importance of continued basic science, translational, and animal studies for providing mechanisms to explain causality using new methods cannot be overemphasized. Multidisciplinary approaches involving obstetricians, neonatologists, pediatric and adult pulmonologists, and basic scientists should be encouraged to design and conduct comprehensive and impactful research on the early stages of normal and abnormal human lung growth that influence adult outcome.

  2. Collaborating with cardiac sonographers to develop work-related musculoskeletal disorder interventions

    PubMed Central

    Sommerich, Carolyn M.; Lavender, Steven A.; Evans, Kevin; Sanders, Elizabeth; Joines, Sharon; Lamar, Sabrina; Umar, Radin Zaid Radin; Yen, Wei-Ting; Li, Jing; Nagavarapu, Shasank; Dickerson, Jennifer A.

    2016-01-01

    For more than two decades, surveys of imaging technologists, including cardiac sonographers, diagnostic medical sonographers, and vascular technologists, have consistently reported high prevalence of work-related musculoskeletal discomfort (WRMSD). Yet, intervention research involving sonographers is limited. In this study, we used a participatory approach to identifying needs and opportunities for developing interventions to reduce sonographers’ exposures to WMSD risk factors. In this paper, we present some of those needs. We include descriptions of two interventions, targeted for cardiac sonographers, that were developed, through an iterative process, into functional prototypes that were evaluated in pilot tests by practicing sonographers. One of these interventions is now in daily use. We would like other engineers and ergonomists to recognize this area of opportunity to apply their knowledge of biomechanics and design in order to begin to address the high prevalence of WRMSDs in sonographers, by working with sonographers to develop useful and usable interventions. PMID:26642863

  3. Sonographic demonstration of stomach pathology: Reviewing the cases.

    PubMed

    Deslandes, Alison

    2013-11-01

    Introduction: The stomach can be the source of complaints for many patients attending for upper abdominal ultrasound. It is not routinely imaged as part of most upper abdominal ultrasound protocols, with sonographers and sonologists alike commonly muttering the line; "I can't see the stomach on ultrasound". However, this is incorrect, as the gastric antrum can almost always be visualised sonographically. Discussion: It is possible to detect a range of pathologies affecting the stomach sonographically, from common, largely tolerable conditions such as hiatus hernias through to life-threatening neoplasms. Conclusion: The stomach can easily be assessed during routine abdominal ultrasound providing the sonographer has knowledge of stomach anatomy, normal ultrasound appearances and limitations to its visualisation. While endoscopy is the gold standard for investigation of the stomach and upper gastrointestinal tract, many patients will initially present for abdominal ultrasound due to its easy, non-invasive nature, ready availability and low cost. For patients with mild abdominal symptoms, a normal abdominal ultrasound may be the extent of their imaging investigations meaning stomach pathologies may go undiagnosed.

  4. [Sources of error in sonographic diagnosis of the rotator cuff].

    PubMed

    Casser, H R; Sulimma, H; Straub, A; Paus, R

    1991-12-01

    Sonography of the shoulder joint has developed into an established examination technique in the diagnosis of periarticular lesions of the shoulder. Sonographic diagnosis of the rotator cuff in particular contains a multitude of possible errors, which are gone into by this study by means of 149 clinically, radiologically and sonographically examined shoulder patients with an average age of 50.5 years. Besides errors made by wrong examination technique such of the transducer as incorrect adjustment of the equipment, insufficient contact of the transducer with the skin and unsuitable choice of the examination plane, there are sources of errors in the interpretation of the sonogram caused by lack of knowledge about physically caused artifacts and sonoanatomical qualities of the shoulder joint. Calcification inside the rotator cuff and the so-called "sonographic inhomogeneity of the rotator cuff" are numbered among the sources of error particular to the shoulder joint. Most errors in sonographic diagnosis of the rotator cuff can be avoided by careful examination of both shoulder joints with an exactly tuned ultrasound device, taking into account the sonoanatomical and ultrasonic qualities. Radiological examination of the affected shoulder joint cannot be replaced by ultrasound.

  5. Sonographic training in rheumatology: a self teaching approach

    PubMed Central

    Filippucci, E; Unlu, Z; Farina, A; Grassi, W

    2003-01-01

    Methods: The novice was given short general training (two hours) by an experienced sonographer focusing on the approach to the ultrasound equipment, and asked to obtain the best sonographic images of different anatomical areas as similar as possible to the "gold standard" pictures in the online version of the guidelines for musculoskeletal ultrasonography in rheumatology (free access at http://www.sameint.it/eular/ultrasound). At the end of each scanning session, both novice and tutor scored "blindly" all the images from 0 (the lowest quality) to 10 (the highest quality), with a minimum quality score of 6 considered acceptable for standard clinical use. The tutor then explained how to improve the quality of the pictures. Fourteen consecutive inpatients (seven with rheumatoid arthritis, three with psoriatic arthritis, two with reactive arthritis, and two with osteoarthritis) and five healthy subjects were examined. Ultrasound examinations were performed with a Diasus (Dynamic Imaging Ltd, Livingston, Scotland, UK) using two broadband linear probes of 5–10 and 8–16 MHz frequency. Results: Sonographic training lasted one month and included 30 scanning sessions (24 hours of active scanning). 243 images were taken of the selected anatomical areas. The mean time required to produce each image was 6 minutes (SD 4.2; range 1–30). At the end of the training, the novice scored ⩾6 for each standard scan. Conclusion: A novice can obtain acceptable sonographic images in 24 non-consecutive hours of active scanning after an intensive self teaching programme. PMID:12759296

  6. Anomalies of the fetal aortic arch: a novel sonographic approach to in-utero diagnosis.

    PubMed

    Achiron, R; Rotstein, Z; Heggesh, J; Bronshtein, M; Zimand, S; Lipitz, S; Yagel, S

    2002-12-01

    To describe a novel, sonographic approach for in-utero evaluation of normal and abnormal aortic arch. Aortic arch was evaluated by imaging of the axial view of the upper fetal mediastinum. The normal left aortic arch was defined by the V-shaped appearance of the junction between the ductus arteriosus and aortic arch, with the trachea situated posteriorly. Right and double aortic arches were diagnosed when the great vessels appeared U-shaped, with intermediate location of the trachea. Between 1997 and 1999, 18 347 women were scanned in three prenatal centers, and pathological findings were prospectively recorded. In a retrospective analysis of the records, we identified 19 fetuses (0.1%) with atypical, U-shaped appearance, and no other structural abnormalities present. With the exception of one fetus with a ventricular septal defect, no congenital cardiac defects were present. Right aortic arch was found in 18 cases, while color Doppler made it possible to diagnose one case with double aortic arch, and one fetus was demonstrated as having Kommerell's diverticulum. In all 18 cases, a left descending aorta and left ductus arteriosus were present, the latter coursing to the left of the trachea, forming a loose partial vascular ring. All were asymptomatic at birth and early infancy. The fetus with double aortic arch that had a true vascular ring underwent early infantile correction. It is possible to diagnose right and double fetal aortic arch using prenatal ultrasound. The use of color Doppler facilitated in-utero evaluation of possible complications, such as true vascular ring.

  7. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.

    PubMed

    Chitty, Lyn S; Khalil, Asma; Barrett, Angela N; Pajkrt, Eva; Griffin, David R; Cole, Tim J

    2013-05-01

    To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. Fetuses with a confirmed diagnosis of thanatophoric dysplasia were ascertained, records reviewed, sonographic features and measurements determined. Charts of fetal size were then constructed using the LMS (lambda-mu-sigma) method and compared with charts used in normal pregnancies and those complicated by achondroplasia. Cases in this cohort referred to our Regional Genetics Laboratory for molecular diagnosis using cffDNA were identified and results reviewed. Forty-two cases were scanned in our units. Commonly reported sonographic features were very short and sometimes bowed femora, frontal bossing, cloverleaf skull, short fingers, a small chest and polyhydramnios. Limb shortening was obvious from as early as 13 weeks' gestation, with minimal growth after 20 weeks. Analysis of cffDNA in three of these pregnancies confirmed the presence of the c.742C>CT (p.Arg248Cys) or the c.1948A>AG (p.Lys650Glu) mutation in the fibroblast growth factor receptor 3 gene. These data should improve the accuracy of the sonographic diagnosis of thanatophoric dysplasia and have implications for reliable and safe targeted molecular confirmation using cffDNA. © 2013 John Wiley & Sons, Ltd.

  8. The sonographic "bright band sign" of splenic infarction.

    PubMed

    Llewellyn, Michael E; Jeffrey, R Brooke; DiMaio, Michael A; Olcott, Eric W

    2014-06-01

    To evaluate the frequency of the "bright band sign" in patients with splenic infarcts as well as control patients and to thereby assess whether the bright band sign has potential utility as a sonographic sign of splenic infarction. Using an electronic search engine and image review, 37 patients were retrospectively identified with noncystic parenchymal splenic infarcts on sonography. Nineteen abnormal control patients with noninfarcted splenic lesions on sonography and 100 normal control patients with sonographically normal spleens were also identified. The sonographic appearance of each splenic lesion was evaluated by 2 reviewers and assessed for the bright band sign, defined as thin specular reflectors perpendicular to the sound beam within hypoechoic parenchymal lesions, and for the presence or absence of the classic sonographic appearance of splenic infarction. Possible histologic counterparts of the bright band sign were assessed in archival infarct specimens. The bright band sign was present in 34 (91.9%; 95% confidence interval [CI], 78.1%-98.3%) of 37 patients with splenic infarcts on sonography, including 12 (85.7%; 95% CI, 57.2%-98.2%) of 14 with classic and 22 (95.7%; 95% CI, 78.1%-99.9%) of 23 with nonclassic infarct appearances. No normal or abnormal control patients had the bright band sign. Histologic sections suggested that preserved splenic trabeculae within infarcts may generate the bright band sign. The bright band sign is a potentially useful sonographic sign of splenic infarction, which may confer additional sensitivity and specificity and may be particularly helpful with infarcts having nonclassic appearances. © 2014 by the American Institute of Ultrasound in Medicine.

  9. At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease.

    PubMed

    Morales, Ana; Allain, Dawn C; Arscott, Patricia; James, Emily; MacCarrick, Gretchen; Murray, Brittney; Tichnell, Crystal; Shikany, Amy R; Spencer, Sara; Fitzgerald-Butt, Sara M; Kushner, Jessica D; Munn, Christi; Smith, Emily; Spoonamore, Katherine G; Tandri, Harikrishna S; Kay, W Aaron

    2017-03-10

    In the last decade, an increasing number of cardiac conditions have been shown to have a genetic basis. Cardiovascular genetic counseling has emerged as a subspecialty aiming to identify unaffected at-risk individuals. An important sector of this at-risk population also includes expectant mothers, in whom unique clinical challenges may arise. Genetic counselors, especially those in cardiovascular and prenatal settings, have an opportunity to identify and assist women who may benefit from cardiovascular care during pregnancy. This paper provides basic management and genetic evaluation principles for affected women, as well as guidance on identifying those who are at risk. We provide considerations for cardiac surveillance in pregnancy and the post-partum period. Finally, key psychosocial issues that appraise how to best provide support to at risk women as they make informed decisions are discussed. We propose that a team approach including cardiology, maternal fetal medicine, and genetic counseling best serves this patient population. Ongoing questions addressing an evidence based approach to cardiovascular genetic conditions in pregnancy still remain. Thus, well-designed research protocols are essential to mark progress in this area.

  10. Prenatal Tests

    MedlinePlus

    ... in cells that holds genes. Genetic conditions include cystic fibrosis (also called CF), sickle cell disease and heart defects . A common ... condition. All women can have carrier screening for CF , spinal muscular atrophy (also called SMA), thalassemias and ...

  11. Prenatal ultrasound - series (image)

    MedlinePlus

    ... much about this first, fleeting look at your baby. The black-and-white image you see on the computer screen is grainy, shadowy, and may look more like a test pattern than a baby-to-be. Your sonographer will walk you through ...

  12. Invasive prenatal diagnosis of fetal thalassemia.

    PubMed

    Li, Dong-Zhi; Yang, Yan-Dong

    2017-02-01

    Thalassemia is the most common monogenic inherited disease worldwide, affecting individuals originating from many countries to various extents. As the disease requires long-term care, prevention of the homozygous state presents a substantial global disease burden. The comprehensively preventive programs involve carrier detections, molecular diagnostics, genetic counseling, and prenatal diagnosis. Invasive prenatal diagnosis refers to obtaining fetal material by chorionic villus sampling (CVS) at the first trimester, and by amniocentesis or cordocentesis at the second trimester. Molecular diagnosis, which includes multiple techniques that are aimed at the detection of mutations in the α- or β-globin genes, facilitates prenatal diagnosis and definitive diagnosis of the fetus. These are valuable procedures for couples at risk, so that they can be offered options to have healthy offspring. According to local practices and legislation, genetic counseling should accompany the invasive diagnostic procedures, DNA testing, and disclosure of the results. The most critical issue in any type of prenatal molecular testing is maternal cell contamination (MCC), especially when a fetus is found to inherit a particular mutation from the mother. The best practice is to perform MCC studies on all prenatal samples. The recent successful studies of fetal DNA in maternal plasma may allow future prenatal testing that is non-invasive for the fetus and result in significant reduction of invasive diagnostic procedures.

  13. Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation.

    PubMed

    Mademont-Soler, Irene; Morales, Carme; Madrigal, Irene; Margarit, Ester; Bruguera, Jordi; Clusellas, Núria; Martínez, José M; Borrell, Antoni; Sánchez, Aurora; Soler, Anna

    2009-12-01

    The identification of an unexpected structural chromosome rearrangement at prenatal diagnosis can be problematic and raises unique genetic counseling issues. We describe two consecutive prenatal cases within a family with an inherited unbalanced (Y;12) translocation and discuss the genotype-phenotype correlation. The first fetus presented with 12qter monosomy and pseudoautosomal region 2 trisomy, while the second fetus had the alternative unbalanced state. Although the first fetus had a structural heart defect, such small imbalances might not give sonographic findings, making their prenatal diagnosis difficult. However, congenital abnormalities are expected in both unbalanced forms of the translocation, including mental retardation, which could be explained by the gene dosage variation of P2RX2. To our knowledge, these are the first published cases reporting this subtype of (Y;12) translocation, in both balanced and unbalanced states.

  14. Prenatal Programming and Toxicity (PPTOX) Introduction.

    PubMed

    Birnbaum, Linda S; Miller, Mark F

    2015-10-01

    The developmental origin of health and disease hypothesis posits that early-life exposures, including prenatal, can influence disease outcomes throughout the entire lifespan of an organism. Over the past 30 years, scientific researchers have compiled robust epidemiological and mechanistic data showing the effects of early-life nutrition, chemical exposures, and stress on prenatal programing and toxicity. Using novel techniques in genomics and epigenetics, science is now establishing strong links between low-level early-life environmental exposures and the later development of noncommunicable diseases, such as cardiovascular disease, obesity, diabetes, neurodevelopmental and neurodegenerative disease, reproductive effects, immune system function and cancer. Now scientists must engage with communities, industry, policy makers, and clinicians to leverage our newfound understanding of prenatal programing and toxicity into better health outcomes across the lifespan.

  15. Length to width ratio of the ductus venosus in simple screening for fetal congenital heart diseases in the second trimester

    PubMed Central

    Chiu, Wei-Hsiu; Lee, Shy-Ming; Tung, Tao-Hsin; Tang, Xiao-Mei; Liu, Ren-Shyan; Chen, Ran-Chou

    2016-01-01

    Abstract Antenatal diagnosis of congenital heart disease (CHD) is still low even though screening was first introduced over 25 years ago. The purpose of our study was to determine the efficacy of a second-trimester prenatal ultrasonographic method of screening for CHD. From September 2012 to September 2013, the length and width of the fetal ductus venosus were measured sonographically in 1006 singleton fetuses, and the ratio of length to width was calculated. The accuracy of each fetal measurement and Doppler ultrasonography were determined. The standard fetal echocardiographic evaluations including 2-dimensional gray-scale imaging, color, and Doppler color flow mapping were performed. The transducer was aligned to the long axis of the fetal trunk to view the ductus venosus in its full length, including the inlet (isthmus) and outlet portions of the vessel. The diameters of the vessel inner wall and mid-point of the ductus venosus were measured using calipers. All scans and fetal measurements were conducted by a registered sonographer with more than 20 years of perinatal ultrasound screening experience. Of the 1006 singleton fetuses between 19+0 and 28+6 weeks’ gestation, 36 had CHD. The ductus venosus length/width ratio (DVR) for the first CHD screening was extremely sensitive at 88.90%, with a specificity of 99.10% for the cardiac abnormalities included in this study. Chromosomal anomalies accompanied CHD in 0.4% (4/1006) of all cases and 11.11% (4/36) of the CHD cases. The DVR differed significantly between fetuses with CHD and normal fetuses during the second trimester. Careful assessment of the ratio should be a part of the sonographic examination of every fetus. In the case of a small DVR, advanced echocardiography and karyotype analysis should be performed. The ratio is a helpful tool for screening CHD abnormalities prenatally in the Chinese population. PMID:27684831

  16. ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

    PubMed

    2009-10-01

    Certain autosomal recessive disease conditions are more prevalent in individuals of Eastern European Jewish (Ashkenazi) descent. Previously, the American College of Obstetricians and Gynecologists recommended that individuals of Eastern European Jewish ancestry be offered carrier screening for Tay-Sachs disease, Canavan disease, and cystic fibrosis as part of routine obstetric care. Based on the criteria used to justify offering carrier screening for Tay-Sachs disease, Canavan disease, and cystic fibrosis, the American College of Obstetricians and Gynecologists' Committee on Genetics recommends that couples of Ashkenazi Jewish ancestry also should be offered carrier screening for familial dysautonomia. Individuals of Ashkenazi Jewish descent may inquire about the availability of carrier screening for other disorders. Carrier screening is available for mucolipidosis IV, Niemann-Pick disease type A, Fanconi anemia group C, Bloom syndrome, and Gaucher disease.

  17. Prenatal Tests

    MedlinePlus

    ... recommended only for certain women, especially those with high-risk pregnancies. These may include women who: are age 35 or older are adolescents have had a premature baby have had a baby with a ... high blood pressure , diabetes , lupus , heart disease, kidney problems, ...

  18. A novel sonographic method of measuring patellar tendon length.

    PubMed

    Gellhorn, Alfred C; Morgenroth, David C; Goldstein, Barry

    2012-05-01

    Obtaining accurate and readily repeatable measurements is a prerequisite for using measures of soft tissue structures both clinically and in the research setting. Few studies have evaluated the interrater reliability of ultrasound measurements of tendons. The objective of this study was to determine the accuracy and reliability of a new method of sonographic measurement of patellar tendon length using direct dissection as the gold standard. Four cadaveric knees were sonographically evaluated by two independent investigators. Two custom designed straps with nylon strapping and stainless steel wire were used to firmly mark position on the leg and create an acoustic shadow on the ultrasound image. Anatomic landmarks were the distal patellar pole and the bony ridge on the anterior proximal tibia. After sonographic evaluation, the knee was dissected to expose the patellar tendon, which was measured using digital calipers. Intraclass correlation coefficients (ICC) were used to determine reliability of measurements between observers, where ICC >0.75 was considered good and >0.9 was considered excellent. Validity was measured using a Bland-Altman plot, which measures bias between measurement methods as well as variability of scatter. Three sonographic measurements were made by each investigator on each tendon. The length of each of the four tendons based on the mean values of sonographic measurements was 53.8 mm, 53.4 mm, 49.4 mm and 46.8 mm. The length based on visual inspection of the dissected tissue was 54.6 mm, 52.8 mm, 49.8 mm and 46.9 mm. The calculated ICC between raters was 0.96. On the Bland-Altman plot, the bias, or mean difference between sonographic and visual measures, was 0.17 mm, with a standard deviation of 0.71. The 95% limit of agreement was -1.55 to 1.22 mm. Measurement of patellar tendon length with ultrasound using adjustable surface markers and calipers is highly accurate and has good interrater reliability. Copyright © 2012 World Federation for

  19. Interaction between prenatal pesticide exposure and a common polymorphism in the PON1 gene on DNA methylation in genes associated with cardio-metabolic disease risk-an exploratory study.

    PubMed

    Declerck, Ken; Remy, Sylvie; Wohlfahrt-Veje, Christine; Main, Katharina M; Van Camp, Guy; Schoeters, Greet; Vanden Berghe, Wim; Andersen, Helle R

    2017-01-01

    Prenatal environmental conditions may influence disease risk in later life. We previously found a gene-environment interaction between the paraoxonase 1 (PON1) Q192R genotype and prenatal pesticide exposure leading to an adverse cardio-metabolic risk profile at school age. However, the molecular mechanisms involved have not yet been resolved. It was hypothesized that epigenetics might be involved. The aim of the present study was therefore to investigate whether DNA methylation patterns in blood cells were related to prenatal pesticide exposure level, PON1 Q192R genotype, and associated metabolic effects observed in the children. Whole blood DNA methylation patterns in 48 children (6-11 years of age), whose mothers were occupationally unexposed or exposed to pesticides early in pregnancy, were determined by Illumina 450 K methylation arrays. A specific methylation profile was observed in prenatally pesticide exposed children carrying the PON1 192R-allele. Differentially methylated genes were enriched in several neuroendocrine signaling pathways including dopamine-DARPP32 feedback (appetite, reward pathways), corticotrophin releasing hormone signaling, nNOS, neuregulin signaling, mTOR signaling, and type II diabetes mellitus signaling. Furthermore, we were able to identify possible candidate genes which mediated the associations between pesticide exposure and increased leptin level, body fat percentage, and difference in BMI Z score between birth and school age. DNA methylation may be an underlying mechanism explaining an adverse cardio-metabolic health profile in children carrying the PON1 192R-allele and prenatally exposed to pesticides.

  20. The uptake and outcome of prenatal and pre-implantation genetic diagnosis for Huntington's disease in the Netherlands (1998-2008).

    PubMed

    van Rij, M C; de Koning Gans, P A M; van Belzen, M J; Roos, R A C; Geraedts, J P M; De Rademaeker, M; Bijlsma, E K; de Die-Smulders, C E M

    2014-01-01

    We aimed to study reproductive behaviour of couples opting for prenatal diagnosis (PND) and pre-implantation genetic diagnosis (PGD) for Huntington's disease (HD). In the Netherlands, exclusion PND is available for persons at 50% risk, whereas exclusion PGD is not allowed. All 162 couples who underwent PND or PGD for HD between 1998 and 2008 and referrals for exclusion PGD to Belgium were included. Couples' reproductive information was collected until December 2010; 132 couples (81.5%) underwent PND in 262 pregnancies, 54 (33.3%) started PGD, and 25 used both. Sixteen percent of PND couples used exclusion PND and 6% used exclusion PGD. The outcomes were 76.5% of PND couples delivered ≥1 unaffected child(ren) after PND, and 44.4% of PGD couples delivered ≥1 PGD child(ren) (mean 2.5 cycles/couple). Couples opting for PGD secondarily (after a previous pregnancy) had more frequently terminated a pregnancy for HD (87.0%) compared with couples secondarily opting for PND (55.2%; p = 0.015). At-risk or HD expansion carrier males were underrepresented in the group of couples primarily opting for PGD (25%) and overrepresented in the secondary PGD group (64%). We conclude that couples reconsider their choices in every subsequent pregnancy based on their previous experience, personal beliefs and the gender of the at-risk partner.

  1. Intrauterine metabolic programming alteration increased susceptibility to non-alcoholic adult fatty liver disease in prenatal caffeine-exposed rat offspring.

    PubMed

    Wang, Linlong; Shen, Lang; Ping, Jie; Zhang, Li; Liu, Zhongfen; Wu, Yong; Liu, Yansong; Huang, Hegui; Chen, Liaobin; Wang, Hui

    2014-01-30

    An increase in susceptibility to metabolic syndromes (MetS) in rat offspring that experienced prenatal caffeine exposure (PCE) has been previously demonstrated. The present study aimed to clarify this increased susceptibility and elucidate the mechanism of foetal origin that causes or contributes to adult non-alcoholic fatty liver disease (NAFLD) as a result of PCE. Based on the results from both foetal and adult studies of rats that experienced PCE (120 mg/kgd), the foetal weight and serum triglyceride levels decreased significantly and hepatocellular ultrastructure was altered. Foetal livers exhibited inhibited insulin-like growth factor-1 (IGF-1), enhanced lipogenesis and reduced lipid output. In adult female offspring of PCE+lab chow, lipid synthesis, oxidation and output were enhanced, whereas lipogenesis was inhibited in their male conterparters. Furthermore, in adult offspring of PCE+ high-fat diet, catch-up growth appeared obvious with enhanced hepatic IGF-1, especially in females. Both males and females showed increased lipid synthesis and reduced output, which were accompanied by elevated serum triglyceride. Severe NAFLD appeared with higher Kleiner scores. Gluconeogenesis was continuously enhanced in females. Therefore, increased susceptibility to diet-induced NAFLD in PCE offspring was confirmed, and it appears to be mediated by intrauterine glucose and alterations in lipid metabolic programming. This altered programming enhanced foetal hepatic lipogenesis and reduced lipid output in utero, which continued into the postnatal phase and reappeared in adulthood with the introduction of a high-fat diet, thereby aggravating hepatic lipid accumulation and causing NAFLD.

  2. MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment.

    PubMed

    Bachelot, Anne; Grouthier, Virginie; Courtillot, Carine; Dulon, Jérôme; Touraine, Philippe

    2017-04-01

    Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is characterized by cortisol and in some cases aldosterone deficiency associated with androgen excess. Goals of treatment are to replace deficient hormones and control androgen excess, while avoiding the adverse effects of exogenous glucocorticoid. Over the last 5 years, cohorts of adults with CAH due to 21-hydroxylase deficiency from Europe and the United States have been described, allowing us to have a better knowledge of long-term complications of the disease and its treatment. Patients with CAH have increased mortality, morbidity and risk for infertility and metabolic disorders. These comorbidities are due in part to the drawbacks of the currently available glucocorticoid therapy. Consequently, novel therapies are being developed and studied in an attempt to improve patient outcomes. New management strategies in the care of pregnancies at risk for congenital adrenal hyperplasia using fetal sex determination and dexamethasone have also been described, but remain a subject of debate. We focused the present overview on the data published in the last 5 years, concentrating on studies dealing with cardiovascular risk, fertility, treatment and prenatal management in adults with classic CAH to provide the reader with an updated review on this rapidly evolving field of knowledge. © 2017 European Society of Endocrinology.

  3. Sonographic markers of fetal α-thalassemia major.

    PubMed

    Li, Xinyan; Zhou, Qichang; Zhang, Ming; Tian, Xiaoxian; Zhao, Yili

    2015-02-01

    α-Thalassemia prevails in Southeast Asia, where α-thalassemia major is a lethal type. Sonography is a helpful and cost-effective screening tool for detecting α-thalassemia major fetuses. The cardiothoracic ratio, placental thickness, and middle cerebral artery peak systolic velocity are most used in clinical practice. These sensitive markers are helpful for evaluation of the hemodynamic status and cardiovascular function of the affected fetuses. They can predict fetal α-thalassemia major and assess the efficacy of treatment noninvasively; therefore, the medical costs as well as the possibility of fetal loss caused by invasive procedures can be reduced. Other potentially useful sonographic markers need further studies, although previous preliminary research suggests their usefulness. This article will review those sonographic markers. © 2015 by the American Institute of Ultrasound in Medicine.

  4. Breast abscess after nipple piercing: sonographic findings with clinical correlation.

    PubMed

    Leibman, A Jill; Misra, Monika; Castaldi, Maria

    2011-09-01

    The purpose of this series was to review the spectrum of clinical and sonographic features associated with infection after nipple piercing. Between 2002 and 2010, 6 patients presented to our breast center with a breast abscess after nipple piercing. A retrospective analysis of the imaging findings was performed with clinical and pathologic correlation. Patients with breast infections after nipple piercing tend to be young, and the timing since piercing varies from 2 weeks to 17 months. Sonography showed a complex or hypoechoic mass in 5 of 6 patients. Treatment of breast abscesses included surgical incision and drainage, percutaneous drainage, and antibiotic therapy. Surgical evacuation is commonly performed; however, sonographically guided aspiration may be an appropriate management strategy.

  5. Laryngeal schwannoma: a case report with emphasis on sonographic findings.

    PubMed

    de Souza, Luis Ronan Marquez Ferreira; De Nicola, Harley; Yamasaki, Rosiane; Pedroso, José Eduardo; do Brasil, Osíris de Oliveira Camponês; Yamashita, Hélio

    2014-01-01

    Schwannomas are benign nerve sheath tumors composed of Schwann cells, which normally produce the insulating myelin sheath covering peripheral, cranial and autonomic nerves. Twenty-five to forty-five percent of all schwannomas occur in the head and neck region, but location of such tumors in the larynx is rarely observed. The present report is aimed at describing a clinical case of laryngeal schwannoma, with emphasis on sonographic findings.

  6. Sonographic appearance of thyroid cancer in patients with Hashimoto thyroiditis.

    PubMed

    Durfee, Sara M; Benson, Carol B; Arthaud, Dylan M; Alexander, Erik K; Frates, Mary C

    2015-04-01

    To determine whether the sonographic appearance of thyroid cancer differs in patients with and without Hashimoto thyroiditis. Patients with histologically proven thyroid cancer who had thyroid peroxidase (TPO) antibodies measured and sonography performed preoperatively were included. We evaluated each nodule for size, echogenicity, composition, margins, halo, and vascularity and evaluated the background heterogeneity of the gland. There were 162 thyroid cancers in 145 patients. Forty-two patients (29.0%) had Hashimoto thyroiditis with positive TPO antibodies, and 103 patients (71.0%) had negative TPO antibodies. The background echogenicity was more often heterogeneous in TPO antibody-positive patients compared to those who had negative TPO antibodies (57.1% versus 26.2%; P= .0005). Comparing cancers in TPO antibody-positive to TPO antibody-negative patients, there was no significant difference in the size, echogenicity, composition, margins, halo presence, calcification presence and type, or vascularity of the cancerous nodule (P > .05). Among TPO antibody-positive patients, comparing thyroid cancerous nodules in patients with heterogeneous glands to those with homogeneous glands, there was no significant difference in any sonographic characteristic except the margin of the nodule, which was more often irregular or poorly defined in heterogeneous glands and more often smooth in homogeneous glands (P< .05). Sonographic features of thyroid cancer are similar in patients with and without Hashimoto thyroiditis. Among patients with Hashimoto thyroiditis and thyroid cancer, the sonographic appearance of the cancerous nodule is similar, except that cancerous nodule margins are more likely to be irregular or poorly defined when the gland is heterogeneous. © 2015 by the American Institute of Ultrasound in Medicine.

  7. Laryngeal schwannoma: a case report with emphasis on sonographic findings*

    PubMed Central

    de Souza, Luis Ronan Marquez Ferreira; De Nicola, Harley; Yamasaki, Rosiane; Pedroso, José Eduardo; do Brasil, Osíris de Oliveira Camponês; Yamashita, Hélio

    2014-01-01

    Schwannomas are benign nerve sheath tumors composed of Schwann cells, which normally produce the insulating myelin sheath covering peripheral, cranial and autonomic nerves. Twenty-five to forty-five percent of all schwannomas occur in the head and neck region, but location of such tumors in the larynx is rarely observed. The present report is aimed at describing a clinical case of laryngeal schwannoma, with emphasis on sonographic findings. PMID:25741079

  8. Pancreatic changes in cystic fibrosis: CT and sonographic appearances

    SciTech Connect

    Daneman, A.; Gaskin, K.; Martin, D.J.; Cutz, E.

    1983-10-01

    The computed tomographic (CT) and sonographic appearances of the late stages of pancreatic damage in three patients with cystic fibrosis are illustrated. All three had severe exocrine pancreatic insufficiency with steatorrhea. In two patients CT revealed complete fatty replacement of the entire pancreas. In the third, increased echogenicity of the pancreas on sonography and the inhomogeneous attenuation on CT were interpreted as being the result of a combination of fibrosis, fatty replacement, calcification, and probable cyst formation.

  9. Sonographic Evaluation for Endometrial Polyps: The Interrupted Mucosa Sign.

    PubMed

    Kamaya, Aya; Yu, Pauline Chang; Lloyd, Carla Ramas; Chen, Bertha H; Desser, Terry S; Maturen, Katherine E

    2016-11-01

    To evaluate the interrupted mucosa sign for identification of endometrial polyps, using pathologic confirmation as the reference standard, compared to other accepted sonographic findings. We reviewed 195 patients referred for pelvic sonographic evaluations for suspected endometrial polyps in this retrospective Institutional Review Board-approved study. Of these, 82 had tissue sampling of the endometrium and constituted the final study group. Patient data, including age, menopausal status, last menstrual period, and final pathologic diagnosis, were recorded. Sonograms were reviewed by 2 blinded board-certified radiologists for endometrial features, including thickness, echogenicity, vascularity, presence of a mass, and the interrupted mucosa sign. Descriptive statistics and multivariate logistic regression analysis were performed. The mean age of the patients was 44.99 (SD, 9.88) years, 79.1% of whom were premenopausal. Pathologic diagnosis confirmed polyps in 58 (70.73%). A single feeding vessel was visualized in 36 patients with polyps (62.07%), whereas the interrupted mucosa sign was visualized in 34 (58.62%). The presence of a feeding vessel, the interrupted mucosa sign, or both detected 48 (82.76%) of the polyps. In the multivariate analysis, only the interrupted mucosa sign was a statistically significant predictor of pathologic diagnosis of a polyp (P= .035), with an odds ratio of 3.83 (95% confidence interval, 1.10-13.29). Other sonographic findings were not independent predictors of a polyp: mass (P = .35), single feeding vessel (P = .31), endometrial thickness (P = .88), and endometrial echogenicity (P = .45). The sensitivity, specificity, and positive predictive value of the interrupted mucosa sign were 59%, 75%, and 85%, respectively. The interrupted mucosa sign is a promising sonographic sign for identification of endometrial polyps, with greater predictive power than previously described signs. It has the potential to improve the diagnostic performance

  10. Peptic ulcer perforation: sonographic imaging of active fluid leakage.

    PubMed

    Minardos, Ioannis; Ioannis, Minardos; Ziogana, Dimitra; Dimitra, Ziogana; Hristopoulos, Hristos; Hristos, Hristopoulos; Dermitzakis, Ioannis; Ioannis, Dermitzakis

    2006-01-01

    Sonography is not the method of choice for the evaluation of suspected peptic ulcer perforation (PUP). However, indirect sonographic signs and direct visualization of PUP have been reported by several authors in recent years. We report a case of an elderly woman who presented with severe abdominal pain and positive rebound sign, in whom abdominal sonography demonstrated indirect signs of PUP, the site of perforation, and active air fluid leakage through the perforated anterior prepyloric antral wall.

  11. Sonographic Determination of Type in a Fetal Imperforate Anus.

    PubMed

    Lee, Mi-Young; Won, Hye-Sung; Shim, Jae-Yoon; Lee, Pil-Ryang; Kim, Ahm; Lee, Byong Sop; Kim, Ellen Ai-Rhan; Cho, Hyun Jin

    2016-06-01

    The purpose of this study was to determine the type of an imperforate anus by using sonography in the prenatal period. This retrospective study evaluated the fetal anus in all pregnant women, including low- and high-risk populations, between February 2010 and November 2013. High-type imperforate anuses were diagnosed by prenatal sonography when the anal sphincter muscles and anal canal mucosa were not visible. Low-type imperforate anuses were prenatally suspected when at least 1 of the following was present: (1) a small anus; (2) no visible anal mucosa; or (3) close location of the genitalia by the anus without a visible perineal body, particularly in a female fetus. Among the 9499 fetuses, 41 were prenatally suspected of having an imperforate anus, and 32 were confirmed to have this disorder. During the same study period, there were 11 false-negative cases, for a diagnostic sensitivity rate of 74%. All 9 fetuses who were confirmed to have a normal anus were prenatally suspected of having a low-type imperforate anus. Among the 32 fetuses with a confirmed imperforate anus, 19 were confirmed to have a high or intermediate type and 13 to have a low type. The type in 3 fetuses was incorrectly determined prenatally. Although an imperforate anus is not always diagnosed prenatally, its type can be determined by prenatal sonography. © 2016 by the American Institute of Ultrasound in Medicine.

  12. Clinically applicable procedure for gene delivery to fetal gut by ultrasound-guided gastric injection: toward prenatal prevention of early-onset intestinal diseases.

    PubMed

    David, A L; Peebles, D M; Gregory, L; Waddington, S N; Themis, M; Weisz, B; Ruthe, A; Lawrence, L; Cook, T; Rodeck, C H; Coutelle, C

    2006-07-01

    Targeting gene therapy vectors to the fetal intestinal tract could provide a novel means toward prevention of the early postnatal intestinal pathology of cystic fibrosis and other conditions, such as congenital enteropathy, that cause intestinal failure. Among these conditions, cystic fibrosis is by far the most common lethal genetic disease. It is caused by a functional absence or deficiency of the cystic fibrosis transmembrane conductance regulator and manifests in the gut as meconium ileus. Prenatal treatment of genetic disease may avoid early-onset tissue damage and immune sensitization, and may target cells that are less accessible in the adult. We investigated gene transfer to the fetal gut, using a minimally invasive injection technique. First-generation replication-deficient adenoviral vectors encoding the beta-galactosidase gene and transduction-enhancing agents were injected into the stomach of early-gestation fetal sheep (n = 8, 60 days of gestation; term, 145 days) under ultrasound guidance. Reporter gene expression was observed 2 days after injection in the villi of the gastrointestinal epithelia after 5-bromo-4-chloro-3-indolyl-beta-D-galactopyranoside staining and beta-galactosidase immunohistochemistry of fetal tissues. Expression of beta-galactosidase, as measured by enzyme-linked immunosorbent assay, was enhanced after pretreatment of the fetal gut with sodium caprate, which opens tight junctions, and after adenovirus complexation with DEAE-dextran, which confers a positive charge to the virus. Instillation of the fluorocarbon perflubron after virus delivery resulted in tissue transduction from the fetal stomach to the colon. Using a clinically relevant technique, we have demonstrated widespread gene transfer to the fetal gastrointestinal epithelia.

  13. Prenatal Genetic Counselling

    PubMed Central

    McGillivray, Barbara C.

    1986-01-01

    Genetic concerns and indications for prenatal diagnosis are first recognized by the family physician. Review of personal, pregnancy and family history may indicate concerns beyond that of advanced maternal age. Amniocentesis is still the most frequently used modality for prenatal diagnosis, but detailed ultrasound is valuable for structural abnormalities, and chorionic villus sampling is now being tested as an alternative to amniocentesis. PMID:21267316

  14. Extensive sonographic ulnar nerve enlargement above the medial epicondyle is a characteristic sign in Hansen's neuropathy.

    PubMed

    Bathala, Lokesh; N Krishnam, Venkataramana; Kumar, Hari Kishan; Neladimmanahally, Vivekananda; Nagaraju, Umashankar; Kumar, Himanshu M; Telleman, Johan A; Visser, Leo H

    2017-07-01

    Earlier studies have shown sonographic enlargement of the ulnar nerve in patients with Hansen's neuropathy. The present study was performed to determine whether sonography or electrophysiological studies can detect the specific site of ulnar nerve pathology in leprosy. Eighteen patients (thirty arms) with Hansen's disease and an ulnar neuropathy of whom 66% had borderline tuberculoid (BT), 27% lepromatous leprosy (LL) and 7% mid-borderline (BB) leprosy were included in the study. Cross-sectional area (CSA) of ulnar nerve was measured every two centimeters from wrist to medial epicondyle and from there to axilla. All patients underwent standard motor and sensory nerve conduction studies of the ulnar nerve. Thirty age and sex matched controls underwent similar ulnar nerve CSA measurements and conduction studies. Ulnar nerve was clinically palpable in 19 of the 30 arms of patients. Motor and sensory nerve conduction studies of the ulnar nerve showed a reduced compound motor action potential and sensory nerve action potential amplitude in all patients. Motor Conduction Velocity (MCV) in patients were slower in comparison to controls, especially at the elbow and upper arm, but unable to exactly locate the site of the lesion. In comparison to controls the ulnar nerveCSA was larger in the whole arm in patients and quite specific the maximum enlargement was seen between nulnar sulcus and axilla, peaking at four centimeters above the sulcus. A unique sonographic pattern of nerve enlargement is noted in patients with ulnar neuropathy due to Hansen's disease, while this was not the case for the technique used until now, the electrodiagnostic testing. The enlargement starts at ulnar sulcus and is maximum four centimeters above the medial epicondyle and starts reducing further along the tract. This characteristic finding can help especially in diagnosing pure neuritic type of Hansen's disease, in which skin lesions are absent, and alsoto differentiate leprosy from other

  15. Prenatal stress due to a natural disaster predicts insulin secretion in adolescence.

    PubMed

    Dancause, Kelsey N; Veru, Franz; Andersen, Ross E; Laplante, David P; King, Suzanne

    2013-09-01

    Prenatal stress might increase cardiometabolic disease risk. We measured prenatal stress due to an ice storm in 1998, and measured glucose tolerance among a subsample of 32 exposed adolescents in 2011. Severity of stress was positively associated with insulin secretion, suggesting that prenatal stress independently predicts metabolic outcomes in adolescence.

  16. Terms, definitions and measurements to describe sonographic features of myometrium and uterine masses: a consensus opinion from the Morphological Uterus Sonographic Assessment (MUSA) group.

    PubMed

    Van den Bosch, T; Dueholm, M; Leone, F P G; Valentin, L; Rasmussen, C K; Votino, A; Van Schoubroeck, D; Landolfo, C; Installé, A J F; Guerriero, S; Exacoustos, C; Gordts, S; Benacerraf, B; D'Hooghe, T; De Moor, B; Brölmann, H; Goldstein, S; Epstein, E; Bourne, T; Timmerman, D

    2015-09-01

    The MUSA (Morphological Uterus Sonographic Assessment) statement is a consensus statement on terms, definitions and measurements that may be used to describe and report the sonographic features of the myometrium using gray-scale sonography, color/power Doppler and three-dimensional ultrasound imaging. The terms and definitions described may form the basis for prospective studies to predict the risk of different myometrial pathologies, based on their ultrasound appearance, and thus should be relevant for the clinician in daily practice and for clinical research. The sonographic features and use of terminology for describing the two most common myometrial lesions (fibroids and adenomyosis) and uterine smooth muscle tumors are presented.

  17. Prenatal Diagnosis of a Retroesophageal Left Brachiocephalic Vein: Two Case Reports.

    PubMed

    Cheng, Yvonne Kwun Yue; Law, Kwok Ming; Chak, Pui Kwan; To, Ka Fai; Chan, Yiu Man; Leung, Tak Yeung

    2017-03-04

    A retroesophageal left brachiocephalic vein is an extremely rare anomaly and has only been reported in 6 postnatal cases. Two prenatally diagnosed cases are reported. On the 3-vessel view, the vein appears as an aberrant vessel transversely coursing behind the aorta and trachea, which subsequently drains into the superior vena cava, giving rise to a U-shaped configuration. On color Doppler sonography, the U sign is bicolored. This anomaly should prompt the sonographer to carefully assess for other congenital heart defects, suggest consideration for genetic testing, and alert the cardiologist because it could affect central line procedures and cardiac interventions after delivery.

  18. Fetal thoracic measurements in prenatal diagnosis of Jeune syndrome.

    PubMed

    Das, Bibhuti B; Nagaraj, Anasuya; Fayemi, Ayodeji; Rajegowda, Benamanahalli K; Giampietro, Philip F

    2002-01-01

    We describe prenatal sonographic findings in a 34-week fetus with Jeune syndrome or asphyxiating thoracic dystrophy (ATD). The long bones measured were less than third percentile; the thoracic circumference (TC) measured 216 mm (< 2.5th percentile); the abdominal circumference (AC) measured 303.5 mm (50th-75th percentiles) and the rib cage perimeter (RCP) measured was 98 mm. The TC/AC was 0.70 (normal, 0.85) and the RCP/TC was 0.45 (normal, 0.68). Following birth diagnosis of Jeune syndrome was made based on radiographic analysis, which was subsequently confirmed by clinical and postmortem examination. This case highlights the utility of both TC/AC and RCP/TC in diagnosis of ATD and other skeletal dysplasias associated with a small thorax.

  19. Amino-Terminal proB-Type Natriuretic Peptide Levels in the Umbilical Cord Blood of Neonates Differ According to the Type of Prenatally Diagnosed Congenital Heart Disease.

    PubMed

    Bae, Jin Young; Cha, Hyun-Hwa; Seong, Won Joon

    2015-12-01

    The aim of this study was to investigate differences in amino-terminal proB-type natriuretic peptide (NT-proBNP) levels in the cord blood of neonates according to the type of congenital heart disease (CHD) and to evaluate the usefulness of NT-proBNP as a prognostic marker. We included 76 neonates with prenatally diagnosed CHD and 45 controls without CHD. Neonates were classified into five groups based on echocardiographic findings. The levels of NT-proBNP in the cord blood were examined and analyzed according to the neonatal outcomes. The levels of NT-proBNP were significantly elevated in the cord blood of neonates with CHD compared with that in the cord blood of controls. The levels of NT-proBNP in the group with right ventricular outflow tract obstruction without a ventricular septal defect were significantly increased compared to that in the other groups. The neonates that required acute surgical correction had higher levels of NT-proBNP in the cord blood, though they were not statistically significant. Meanwhile, NT-proBNP levels in the cord blood of neonates with functional single ventricle were significantly higher than that in the cord blood of those with functional biventricles. Significant differences in the levels of NT-proBNP between survivors and nonsurvivors were observed within 1 year of birth. In this study, we found that the levels of NT-proBNP in the cord blood of neonates with CHD were higher than the levels in controls. This finding was striking in the group with right ventricular outflow tract obstruction, and it was associated with surgery for functional single ventricle and 1-year survival.

  20. Efficiency of prenatal diagnosis in Pierre Robin sequence.

    PubMed

    Di Pasquo, Elvira; Amiel, Jeanne; Roth, Philippe; Malan, Valérie; Lind, Katia; Chalouhi, Christel; Soupre, Véronique; Gordon, Christopher T; Lyonnet, Stanislas; Salomon, Laurent J; Abadie, Véronique

    2017-09-26

    to analyze the efficiency of prenatal diagnosis of Pierre Robin sequence (PRS) regarding the final specific diagnosis and to determine whether infants have more severe respiratory disorders with than without prenatally suspected PRS. review of the outcome of all prenatal cases of suspected PRS managed in our prenatal diagnosis center during the last 15 years; analysis of the consistency between pre- and postnatal diagnoses in 2 groups of women with and without a family history of PRS; comparison of the grades of disease severity for infants with and without prenatally suspected PRS. 59 files were studied. Pre- and post-natal consistency of a specific diagnosis of PRS was 100% for women with a family history of PRS and with prenatally suspected non-isolated PRS. It was 78.6% for those with prenatally suspected isolated PRS. We describe 13 terminations of pregnancy. The 41 children living beyond 18 months seem to have more functionally severe phenotypes than the 227 children without prenatally suspected PRS. Antenatal diagnosis of isolated PRS is a challenge as other features can be missed. Use of prenatal chromosomal microarray can improve the accuracy of diagnosis. In all cases, adequate neonatal care should be offered. This article is protected by copyright. All rights reserved.

  1. Investigations as a prerequisite for genetic counseling after termination of pregnancy based on sonographic detection of serious central nervous system--or skeletal anomalies.

    PubMed

    Kaasen, Anne; Prescott, Trine E; Heiberg, Arvid; Scott, Helge; Haugen, Guttorm

    2008-01-01

    The primary aim was to evaluate which investigation performed after sonographic detection of central nervous system (CNS) or skeletal anomalies that had highest diagnostic yield. The secondary aim was to estimate recurrence risk. Design. Retrospective review of patients' records. Tertiary fetal medicine referral center. Pregnancy terminations (n=97) because of CNS or skeletal anomalies during a 17-year period, within 12-24 weeks gestation. Two medical geneticists and one genetic counselor reviewed charts independently. Primary ultrasound diagnosis, change in diagnosis following supplementary examinations in addition to prenatal ultrasound (medical history, autopsy, post-mortem X-ray, karyotyping, targeted DNA analysis and investigations for infection), the most useful method to determine diagnosis, and recurrence risk estimate including inter-rater agreement. Mean gestational age was 19.8 weeks. All three investigators agreed in each case on which investigation constituted the best basis to determine the most precise diagnosis. The examinations performed in addition to prenatal ultrasound provided important diagnostic information in 54 cases (56%) and altered recurrence risk in 22 (23%) cases; in eight of these cases the risk estimate was increased. In nine cases (9%) the investigators disagreed in their estimates of recurrence risk. Kappa for inter-rater agreement was >0.90. A panel of diagnostic investigations, depending on the organ system involved, allows for a more precise diagnosis and a more reliable estimate of recurrence risk than prenatal ultrasound alone. In some instances, recurrence risk estimation is not straightforward as evidenced by lack of consensus.

  2. The prenatal visit.

    PubMed

    Cohen, George J

    2009-10-01

    As advocates for children and their families, pediatricians can support and guide expectant parents in the prenatal period. Prenatal visits allow the pediatrician to gather basic information from expectant parents, offer them information and advice, and identify high-risk conditions that may require special care. In addition, a prenatal visit is the first step in establishing a relationship between the family and the pediatrician (the infant's medical home) and in helping the parents develop parenting skills and confidence. There are several possible formats for this first visit. The one used depends on the experience and preference of the parents, the style of the pediatrician's practice, and pragmatic issues of reimbursement.

  3. The student's dilemma, liver edition: incorporating the sonographer's language into clinical anatomy education.

    PubMed

    Hall, M Kennedy; Mirjalili, S Ali; Moore, Christopher L; Rizzolo, Lawrence J

    2015-01-01

    Anatomy students are often confused by multiple names ascribed to the same structure by different clinical disciplines. Increasingly, sonography is being incorporated into clinical anatomical education, but ultrasound textbooks often use names unfamiliar to the anatomist. Confusion is worsened when ultrasound names ascribed to the same structure actually refer to different structures. Consider the sonographic main lobar fissure (MLF). The sonographic MLF is a hyper-echoic landmark used by sonographers of the right upper quadrant. Found in approximately 70% of people, there is little consensus on what the sonographic MLF is anatomically. This structure appears to be related to the main portal fissure (aka principal plane of the liver or principal hepatic fissure), initially described by anatomists and surgeons as in intrahepatic division along the middle hepatic vein which in essence divides the territories of the left and right hepatic arteries and biliary systems. By exploring the relationship between the main portal fissure and the sonographic MLF in cadaveric livers ex vivo, the data suggest the sonographic MLF is actually an extrahepatic structure that parallels the rim of the main portal fissure. The authors recommend that this structure be renamed the "sonographic cystic pedicle," which includes the cystic duct and ensheathing fat and blood vessels. In the context of the redefined underlying anatomy, the absence of the sonographic cystic pedicle due to anatomic variation may serve an important clinical role in predicting complications from difficult laparoscopic cholecystectomies and is deserving of future study. © 2015 American Association of Anatomists.

  4. Sonographers' Complex Communication during the Obstetric Sonogram Exam: An Interview Study

    ERIC Educational Resources Information Center

    Brasseur, Lee

    2012-01-01

    A study of the oral communication experiences and training of obstetric sonographers can provide insight into the complex expectations these medical professionals face as they complete their technical tasks and communicate with patients. Unlike other diagnostic medical professionals, obstetric sonographers are expected to provide detailed…

  5. Sonographers' Complex Communication during the Obstetric Sonogram Exam: An Interview Study

    ERIC Educational Resources Information Center

    Brasseur, Lee

    2012-01-01

    A study of the oral communication experiences and training of obstetric sonographers can provide insight into the complex expectations these medical professionals face as they complete their technical tasks and communicate with patients. Unlike other diagnostic medical professionals, obstetric sonographers are expected to provide detailed…

  6. Return of Viable Cardiac Function After Sonographic Cardiac Standstill in Pediatric Cardiac Arrest.

    PubMed

    Steffen, Katherine; Thompson, W Reid; Pustavoitau, Aliaksei; Su, Erik

    2017-01-01

    Sonographic cardiac standstill during adult cardiac arrest is associated with failure to get return to spontaneous circulation. This report documents 3 children whose cardiac function returned after standstill with extracorporeal membranous oxygenation. Sonographic cardiac standstill may not predict cardiac death in children.

  7. Predicting Student Performance in Sonographic Scanning Using Spatial Ability as an Ability Determinent of Skill Acquisition

    ERIC Educational Resources Information Center

    Clem, Douglas Wayne

    2012-01-01

    Spatial ability refers to an individual's capacity to visualize and mentally manipulate three dimensional objects. Since sonographers manually manipulate 2D and 3D sonographic images to generate multi-viewed, logical, sequential renderings of an anatomical structure, it can be assumed that spatial ability is central to the perception and…

  8. Sonographically Guided Anterior Cruciate Ligament Injection: Technique and Validation.

    PubMed

    Smith, Jay; Hackel, Joshua G; Khan, Umar; Pawlina, Wojciech; Sellon, Jacob L

    2015-07-01

    To describe and validate a practical technique for sonographically guided anterior cruciate ligament (ACL) injections. Prospective, cadaveric laboratory investigation. Procedural skills laboratory in a tertiary medical center. Ten unembalmed, cadaveric mid-thigh-knee-ankle foot specimens (5 left knees and 5 right knees; 5 male and 5 female) from 10 donors aged 76 to 93 years (mean 85.6 years) with body mass indices of 17.6 to 42.2 kg/m(2) (mean 28.8 kg/m(2)). A single, experienced operator used a 22-gauge, 63.5-mm stainless steel needle and a 12-3-MHz linear transducer to inject 1.5 mL of diluted colored latex into the ACLs of 10 unembalmed cadaveric specimens via an in-plane, caudad-to-cephalad approach, long axis to the ACL. At a minimum of 24 hours postinjection, specimens were dissected, and the presence and distribution of latex within the ACL assessed by a study co-investigator. Presence and distribution of latex within the ACL. All 10 injections accurately delivered latex into the proximal (femoral), midsubstance, and distal (tibial) portions of the ACL. No specimens exhibited evidence of needle injury or latex infiltration with respect to the menisci, hyaline cartilage, or posterior cruciate ligament. Sonographically guided intra-ligamentous ACL injections are technically feasible and can be performed with a high degree of accuracy. Sonographically guided ACL injections could be considered for research and clinical purposes to directly deliver injectable agents into the healing ACL postinjury or postreconstruction. Copyright © 2015 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.

  9. Sonographically Guided Posterior Cruciate Ligament Injections: Technique and Validation.

    PubMed

    Hackel, Joshua G; Khan, Umar; Loveland, Dustin M; Smith, Jay

    2016-03-01

    To describe and validate a technique for sonographically guided posterior cruciate ligament (PCL) injections. Prospective, cadaveric laboratory investigation. Procedural skills laboratory. Eight unembalmed, cadaveric, mid-thigh-knee specimens (4 left knees and 4 right knees) obtained from 4 male and 4 female donors aged 57 to 64 years (mean 60.8 years) with body mass indices of 27.7 to 36.5 kg/m(2) (mean 32 kg/m(2)). A 5-2-MHz curvilinear probe and a 22-gauge, 78-mm stainless steel needle was used to inject 2 mL of diluted blue latex into the PCL of each specimen using an in-plane, caudad-to-cephalad approach. At a minimum of 24 hours postinjection, each specimen was dissected to assess the presence and distribution of latex within the PCL. Presence and distribution of latex within the PCL. All 8 injections accurately delivered latex throughout the PCL, including the tibial and femoral footprints. In 2 of 8 specimens (25%), a small amount of latex was noted to extend beyond the PCL and into the joint space. No specimens exhibited evidence of needle injury of latex infiltration with respect to the popliteal neurovascular bundle, menisci, hyaline cartilage, or anterior cruciate ligament. Sonographically guided intraligamentous PCL injections are technically feasible and can be performed with a high degree of accuracy. Sonographically guided PCL injections should be considered for research and clinical purposes to deliver therapeutic agents into the PCL postinjury or postreconstruction. Copyright © 2016 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.

  10. Sonographically guided sternoclavicular joint injection: description of technique and validation.

    PubMed

    Pourcho, Adam M; Sellon, Jacob L; Smith, Jay

    2015-02-01

    The primary purpose of this investigation was to describe and validate a sonographically guided technique for injecting the sternoclavicular joint (SCJ) using a cadaveric model. A single experienced operator (J.S.) completed 13 sonographically guided SCJ injections on 7 unembalmed cadaveric specimens (4 male and 3 female) using an out-of-plane, caudad-to-cephalad technique to place 1 mL of diluted blue latex into the joint. Within 72 hours, study coinvestigators dissected each specimen to determine the injectate location. All 13 injections accurately placed latex into the SCJ with a predilection for the clavicular side (accuracy, 100%; 95% confidence interval, 73%-100%). Three injections (23%) placed all latex on the clavicular side of the SCJ in the presence of a complete intra-articular disk. Dissection revealed incomplete degenerated disks in the remaining 10 joints. Seven of these injections (54%) clearly placed more than 80% of the latex on the clavicular side, whereas the remaining 3 injections (23%) showed nearly equal latex distribution between the clavicular and sternal sides. No injection resulted in neurovascular injury or extracapsular flow. Sonographically guided SCJ injections can be considered in the diagnosis and management of patients presenting with medial shoulder pain syndromes and, using the technique described herein, have a predilection to target the clavicular portion of the joint. In younger patients with possible complete intra-articular disks or in patients with sternal-side conditions, practitioners should consider confirming sternal-side flow after injection or attempt to specifically target the sternal side of the joint. © 2015 by the American Institute of Ultrasound in Medicine.

  11. Sonographic appearances of juvenile fibroadenoma of the breast.

    PubMed

    Kim, Suk Jung; Park, Young Mi; Jung, Soo Jin; Lee, Kwang Hwi; Kim, Ok Hwa; Ryu, Ji Hwa; Choi, Gi Bok; Lee, Sun Joo; Choo, Hye Jung; Jeong, Hae Woong

    2014-11-01

    The purpose of this study was to evaluate characteristic features of juvenile fibroadenoma of the breast on sonography. Our study included 34 juvenile fibroadenomas confirmed by surgical biopsy or sonographically guided 8-gauge vacuum-assisted biopsy in 23 patients (age range, 15-47 years; mean age, 25 years). Sonographic findings of the lesions were analyzed retrospectively by 2 radiologists in consensus according to the American College of Radiology Breast Imaging Reporting and Data System (BI-RADS) lexicon. The BI-RADS final assessment category was also established. On sonography, all fibroadenomas presented as masses. The mean size was 30 mm. Regarding shape, there were 29 oval, 2 round, and 3 irregular masses. The margins were circumscribed in 24, indistinct in 5, microlobulated in 4, and angular in 1. Regarding echogenicity, 16 masses were hypoechoic, 16 isoechoic, and 2 complex echoic. Posterior acoustic characteristics included posterior acoustic enhancement in 22 masses (65%), posterior shadowing in 1, and no posterior acoustic features in 9; this information was not available in 2. The lesion boundary presented as an abrupt interface in 32 and an echogenic halo in 2. The orientation was parallel in 32 and nonparallel in 2. Calcifications were present in 3 cases and absent in 31. On color Doppler sonography, the masses were usually hypervascular with vessel counts of 5 or more (87%). The BI-RADS final assessment categories were 3 in 24 and 4a in 10. The dominant sonographic presentation of juvenile fibroadenoma is a circumscribed oval hypoechoic or isoechoic mass, which resembles that of simple fibroadenoma. Juvenile fibroadenomas frequently show posterior acoustic enhancement and hypervascularity on color Doppler sonography. © 2014 by the American Institute of Ultrasound in Medicine.

  12. Sonographic Detection of Extracapsular Extension in Papillary Thyroid Cancer.

    PubMed

    Kamaya, Aya; Tahvildari, Ali M; Patel, Bhavik N; Willmann, Juergen K; Jeffrey, R Brooke; Desser, Terry S

    2015-12-01

    To identify and evaluate sonographic features suggestive of extracapsular extension in papillary thyroid cancer. Three board-certified radiologists blinded to the final pathologic tumor stage reviewed sonograms of pathologically proven cases of papillary thyroid cancer for the presence of extracapsular extension. The radiologists evaluated the following features: capsular abutment, bulging of the normal thyroid contour, loss of the echogenic capsule, and vascularity extending beyond the capsule. A total of 129 cases of pathologically proven thyroid cancer were identified. Of these, 51 were excluded because of lack of preoperative sonography, and 16 were excluded because of pathologic findings showing anaplastic carcinoma, follicular carcinoma, or microcarcinoma (<10 mm). The final analysis group consisted of 62 patients with papillary thyroid carcinoma, 16 of whom had pathologically proven extracapsular extension. The presence of capsular abutment had 100% sensitivity for detection of extracapsular extension. Conversely, lack of capsular abutment had a 100% negative predictive value (NPV) for excluding extracapsular extension. Contour bulging had 88% sensitivity for detection of extracapsular extension and when absent had an 87% NPV. Loss of the echogenic capsule was the best predictor of the presence of extracapsular extension, with an odds ratio of 10.23 (P = .034). This sonographic finding had 75% sensitivity, 65% specificity, and an 88% NPV. Vascularity beyond the capsule had 89% specificity but sensitivity of only 25%. Sonographic features of capsular abutment, contour bulging, and loss of the echogenic thyroid capsule have excellent predictive value for excluding or detecting extracapsular extension and may help in biopsy selection, surgical planning, and treatment of patients with papillary thyroid cancer. © 2015 by the American Institute of Ultrasound in Medicine.

  13. Sonographic evaluation of patellar clunk syndrome following total knee arthroplasty.

    PubMed

    Geannette, Christian; Miller, Theodore; Saboeiro, Gregory; Parks, Michael

    2017-02-01

    Patellar clunk syndrome is a painful mechanical phenomenon that may develop following total knee arthroplasty. The diagnosis is usually made clinically, but cross-sectional imaging may be needed to confirm the clinical suspicion. Sonographic confirmation of patellar clunk syndrome can be obtained by directly visualizing the soft tissue proliferation deep to the distal quadriceps tendon and by dynamically demonstrating the clunking tissue during flexion and extension of the knee. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:105-107, 2017. © 2016 Wiley Periodicals, Inc.

  14. [HTLV 1/2 infection: prenatal performance as a disease control strategy in State of Mato Grosso do Sul].

    PubMed

    Dal Fabbro, Márcia Maria Ferrairo Janini; Cunha, Rivaldo Venâncio da; Bóia, Márcio Neves; Portela, Patrícia; Botelho, Carlos Augusto; Freitas, Gisele Maria Brandão de; Soares, Joana; Ferri, Juliana; Lupion, Juliana

    2008-01-01

    In this study, the prevalence of HTLV 1/2 infection among pregnant women in the State of Mato Grosso do Sul was estimated by means of the ELISA, Western Blot and PCR techniques, in blood samples collected by peripheral venous puncture. 116,689 pregnant women were examined and 153 were diagnosed as presenting HTLV 1/2 infection, with prevalence of 0.13%. Among these 153 pregnant women, 133 (86.9%) had type 1 and 20 (11.1%) had type 2; 73.2% were black, brown or indigenous; about 90% performed domestic activities; and 75.8% (116/153) had been to school for seven years or less. The 153 pregnant women had 172 pregnancies during the study period and 164 pregnancies were followed. Out of pregnancies that were followed, 6.7% (11/164) evolved to abortion, 26.8% (41/153) reported previous abortions and 31.7% (13/41) had had more than two abortions. Comorbidities were found in 17% (26/153), among whom 3.3% (5/153) had HIV (p<0.000002). The authors emphasize the importance of identifying pregnant women with HTLV 1/2 infection, as a strategy for disease control and prevention.

  15. Understanding Prenatal Tests

    MedlinePlus

    ... several things, particularly the risk of Down Syndrome. Rh Incompatibility This test determines whether the mother and ... at the first prenatal visit. If there is Rh incompatibility, treatments can help prevent later complications. Ultrasound ...

  16. Invasive Prenatal Testing

    PubMed Central

    Hunter, A.

    1988-01-01

    Invasive prenatal diagnosis is a major diagnostic tool which is used in modern obstetrical care. A synopsis of these techniques is provided to assist the family practitioner in providing this information to his patients. PMID:21253097

  17. Prenatal Genetic Diagnostic Tests

    MedlinePlus

    ... offered to couples who are using in vitro fertilization to become pregnant and who are at increased ... The stage of prenatal development that starts at fertilization (joining of an egg and sperm) and lasts ...

  18. Prenatal diagnosis of achondrogenesis.

    PubMed

    Golbus, M S; Hall, B D; Filly, R A; Poskanzer, L B

    1977-09-01

    Severe rhizomelic and mesomelic dwarfism was demonstrated in a 20-week gestation fetus by amniography. A systematic progressive approach to prenatal diagnosis in the absence of a definitive diagnosis and the use of contrast radiography is discussed.

  19. Increased Burden of Respiratory Disease in the First Six Months of Life Due to Prenatal Environmental Tobacco Smoke: Krakow Birth Cohort Study

    ERIC Educational Resources Information Center

    Jedrychowski, Wieslaw; Galas, Alek Sander; Flak, Elzbieta; Jacek, Ryszard; Penar, Agnieszka; Spengler, John; Perera, Frederica P.

    2007-01-01

    The main purpose of our study was to assess the effects of prenatal tobacco smoke on respiratory symptoms and on doctor consultations in a birth cohort of 445 infants who had no smoking mothers and who had no postnatal exposure to environmental tobacco smoke (ETS). Before and after delivery, questionnaires and interviews with mothers were…

  20. Increased Burden of Respiratory Disease in the First Six Months of Life Due to Prenatal Environmental Tobacco Smoke: Krakow Birth Cohort Study

    ERIC Educational Resources Information Center

    Jedrychowski, Wieslaw; Galas, Alek Sander; Flak, Elzbieta; Jacek, Ryszard; Penar, Agnieszka; Spengler, John; Perera, Frederica P.

    2007-01-01

    The main purpose of our study was to assess the effects of prenatal tobacco smoke on respiratory symptoms and on doctor consultations in a birth cohort of 445 infants who had no smoking mothers and who had no postnatal exposure to environmental tobacco smoke (ETS). Before and after delivery, questionnaires and interviews with mothers were…

  1. Cardiovascular System Sonographic Evaluation Algorithm: A New Sonographic Algorithm for Evaluation of the Fetal Cardiovascular System in the Second Trimester.

    PubMed

    De León-Luis, Juan; Bravo, Coral; Gámez, Francisco; Ortiz-Quintana, Luis

    2015-07-01

    To evaluate the reproducibility and feasibility of the new cardiovascular system sonographic evaluation algorithm for studying the extended fetal cardiovascular system, including the portal, thymic, and supra-aortic areas, in the second trimester of pregnancy (19-22 weeks). We performed a cross-sectional study of pregnant women with healthy fetuses (singleton and twin pregnancies) attending our center from March to August 2011. The extended fetal cardiovascular system was evaluated by following the new algorithm, a sequential acquisition of axial views comprising the following (caudal to cranial): I, portal sinus; II, ductus venosus; III, hepatic veins; IV, 4-chamber view; V, left ventricular outflow tract; VI, right ventricular outflow tract; VII, 3-vessel and trachea view; VIII, thy-box; and IX, subclavian arteries. Interobserver agreement on the feasibility and exploration time was estimated in a subgroup of patients. The feasibility and exploration time were determined for the main cohort. Maternal, fetal, and sonographic factors affecting both features were evaluated. Interobserver agreement was excellent for all views except view VIII; the difference in the mean exploration time between observers was 1.5 minutes (95% confidence interval, 0.7-2.1 minutes; P < .05). In 184 fetuses (mean gestational age ± SD, 20 ± 0.6 weeks), the feasibility of all views was close to 99% except view VIII (88.7%). The complete feasibility of the algorithm was 81.5%. The mean exploration time was 5.6 ± 4.2 minutes. Only the occiput anterior fetal position was associated with a lower frequency of visualization and a longer exploration time (P < .05). The cardiovascular system sonographic evaluation algorithm is a reproducible and feasible approach for exploration of the extended fetal cardiovascular system in a second-trimester scan. It can be used to explore these areas in normal and abnormal conditions and provides an integrated image of extended fetal cardiovascular anatomy

  2. Disorganized Cortical Patches Suggest Prenatal Origin of Autism

    MedlinePlus

    ... March 26, 2014 Disorganized cortical patches suggest prenatal origin of autism NIH-funded study shows disrupted cell ... treatments, and cures for both common and rare diseases. For more information about NIH and its programs, ...

  3. Congenital Epidermoid Cyst of the Oral Cavity: Prenatal Diagnosis by Sonography

    PubMed Central

    Park, Seung Wan; Chae, Soo Ahn; Yoo, Byoung Hoon; Kim, Gwang Jun; Lee, Sei Young

    2013-01-01

    Epidermoid cysts are benign developmental anomalies that are rarely observed in the oral cavity of neonate. If large in size, especially in the developing fetus or newborn infant, they can cause swallowing difficulty and occasionally respiratory difficulty. We report a case of epidermoid cyst in the oral cavity detected prenatal sonography. The sonographic finding was large cystic mass, measuring 30×25 mm. In this case, supplies and equipment for an emergency tracheostomy were made available prior to the delivery. However, the infant did not require intervention to secure the airway. The lesion was surgically excised, and histologic diagnosis was epidermoid cyst. After 6 months of follow up, the cyst had not recurred. This case illustrates the value of accurate prenatal diagnosis and planned perinatal management using a team approach. PMID:24069525

  4. Prenatal diagnosis of the acute meconium peritonitis secondary to ileum volvulus perforation: a case report.

    PubMed

    Keskin, Uğur; Karasahin, Kazım Emre; Ozturk, Mustafa; Atabek, Cüneyt; Demirbağ, Suzi; Ergün, Ali

    2015-02-01

    This is an unusual case in comparison to other sonographically described prenatal cases due to very early diagnosis and surgical intervention following prompt delivery. A 40-year-old pregnant, ultrasonography showed presence of cystic structure in the fetal abdomen that was consistent with intestinal dilatation. At 32 weeks' of gestation, repeat ultrasound showed collapse of the bowel dilatation along with the presence of hyperechogenic fluid in the fetal abdominal cavity. Cesarean section was performed. The clinical utility of this report is the recognition that meconium peritonitis (MP) may be diagnosed in the acute phase with typical ultrasound features, and should be considered in the differential diagnoses of cases presented with reduced fetal movements. Although it appears that morbidity and mortality in MP cases depend upon gestational age, this case report may help to manage similar cases for defining the appropriate delivery time and treatment modality after prenatal identification of the problem.

  5. Prenatal pharmacogenomics: a promising area for research.

    PubMed

    Dorfman, E H; Cheng, E Y; Hebert, M F; Thummel, K E; Burke, W

    2016-08-01

    Clinical applications of prenatal genetic screening currently focus on detection of aneuploidy and other genetic diseases in the developing fetus. Growing evidence suggests that the fetal genome may also be informative about fetal exposures through contributions to placental transport as well as placental and fetal metabolism. Possible clinical applications of prenatal pharmacogenomic screening include prospective optimization of medication selection and dosage, as well as retrospective assessment of whether a fetus was previously exposed to significant risk. Newly available noninvasive methods of prenatal genetic screening mean that relevant fetal genotypes could be made available to obstetricians for use in management of a current pregnancy. This promising area for research merits more attention than it has thus far received.The Pharmacogenomics Journal advance online publication, 10 May 2016; doi:10.1038/tpj.2016.33.

  6. Pelizaeus-Merzbacher disease: Detection of mutations Thr[sup 181][yields]Pro and Leu[sup 223][yields]Pro in the proteolipid protein gene, and prenatal diagnosis

    SciTech Connect

    Strautnieks, S.; Rutland, P.; Malcolm, S.; Baraitser, M. ); Winter, R.M. )

    1992-10-01

    A family with an apparent history of X-linked Pelizaeus-Merzbacher disease presented for genetic counseling, requesting carrier detection and prenatal diagnosis. RFLP analysis using the proteolipid protein (PLP) gene probe was uninformative in this family. A prenatal diagnosis on a chorionic villus sample (CVS) was carried out using single-strand conformation polymorphism (SSC) analysis of a variant in exon 4 of the PLP gene. The fetus was predicted to be unaffected. Sequencing of the exon from the CVS, the predicted-carrier mother, and the obligate-carrier grandmother revealed an A-to-C change at nucleotide 541 in the two women but not in the fetus. As this change results in a Thr-to-Pro change at amino acid 181 in a region of the gene predicted to be part of a transmembrane segment, it was concluded that this was the mutation causing the disease in this family. In addition, in a second family, an exon 5 variant band pattern on SSCP analysis was shown by sequencing to be due to a T-to-C change at nucleotide 668. This results in a Leu-to-Pro change in a carrier mother and in her two affected sons. These results provide further examples of mutations in PLP that cause Pelizaeus-Merzbacher disease and illustrate the value of SSCP in genetic analysis. 17 refs., 6 figs., 1 tab.

  7. Sonographic evaluation of the thyroid size in neonates.

    PubMed

    Freire, Ronald; Monte, Osmar; Tomimori, Eduardo Kiyoshi; Catarino, Regina Maria; Sterza, Thais; Rocha, Thatyana; Pereira, Katia Cristine Carvalho; Mattos, Hortensio Simões; Fagundes, Leonardo Barros; Liberato, Marcelo Martins; Dos Santos, Luiz Wagner Rodrigues; Pereira, Adeberto; Cintra, Terezinha; Hegner, Christina; Lube, Daniela; Murad, Mylene

    2014-10-18

    To validate the use of the ratio between the total transverse diameters of the thyroid lobes (Th) and the width of the trachea (Tr)-the Th:Tr or Yasumoto ratio-as a sonographic method for estimating thyroid size, and to determine reference values for this ratio and for thyroid volume in neonates. In this cross-sectional study, we evaluated thyroid size according to the Yasumoto ratio and the thyroid volume calculated with the ellipsoid formula in 125 healthy, euthyroid, iodine-sufficient, full-term neonates. The mean thyroid gland volume was 1.00 ml (95% confidence interval, 0.95-1.03 ml), and the mean Yasumoto ratio was 2.29 (95% confidence interval, 2.21-2.31). The lower- and upper-limit results falling within 2 SDs of the mean were 0.45 ml and 1.53 ml for the volume and 1.71 and 2.87 for the ratio. In full-term, euthyroid, iodine-sufficient neonates, the normal reference interval for thyroid volume measured on sonography was 0.45-1.53 ml and that for the Yasumoto ratio was 1.71-2.87. A ratio of 1.7 may be applied as the cutoff value for sonographic diagnosis of thyroid dysgenesis in full-term neonates with congenital hypothyroidism. © 2014 Wiley Periodicals, Inc. J Clin Ultrasound, 2014. Copyright © 2014 Wiley Periodicals, Inc.

  8. Sonographic measurement of fetal thymus size in uncomplicated singleton pregnancies.

    PubMed

    Tangshewinsirikul, Chayada; Panburana, Panyu

    2017-03-04

    To establish sonographic reference ranges of the normal fetal thymus size between 17 and 38 weeks of gestational age (GA). The study was conducted between April 1 and December 31, 2013. Low-risk singleton pregnancies without obstetrical and medical complications at the GAs between 17 and 38 weeks were recruited for thymus measurement. The fetal thymus was identified on transabdominal sonography at the three-vessel view. Maximal transverse diameter, perimeter, and thymus/thoracic ratio were measured. The best-fit models in predicting thymic dimensions as a function of GA and biparietal diameter (BPD) were determined using regression analysis, and percentile charts for predicting thymic dimensions were constructed. A total of 296 singleton pregnancies were recruited in this study. Maximal transverse diameter, perimeter, and thymus/thoracic ratio increased throughout pregnancy. The regression equation for maximal transverse diameter of the thymus as a function of GA was as follows: Predicted mean thymus diameter (mm) = -25.904 + 2.476 × GA - 0.019 × GA(2) (r = 0.915; p < 0.001) with predicted standard deviations of thymus diameter (mm) = 1.428 + 0.044 × GA (r = 0.017; p < 0.001). Sonographic reference ranges of the normal fetal thymic dimensions between 17 and 38 weeks of GA have been established. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:150-159, 2017. © 2016 Wiley Periodicals, Inc.

  9. Metastases to the breast from extramammary malignancies−sonographic features.

    PubMed

    Lee, Ji Hye; Kim, Sung Hun; Kang, Bong Joo; Cha, Eun Suk; Kim, Hyun Suk; Choi, Jae Jeong

    2011-06-01

    To evaluate the clinical and sonographic (US) features of metastatic tumors from extramammary malignancies to the breast. This study included 23 patients with pathologically proven metastases in the breast. Two radiologists retrospectively analyzed the images from US (n = 23), mammography (n = 11), and MRI (n = 5) examinations according to BIRADS. Patients presented with a palpable mass or diffuse breast swelling (21/23) or were asymptomatic (2/23). Eighteen patients had solitary or multiple breast masses on US. The common US finding was an ovoid hypoechoic mass with a noncircumscribed margin. The final assessment categories were BIRADS 3 (probably benign finding) in 6 cases (25%) and BIRADS 4 (suspicious abnormality) in 18 cases (75%). In five patients, US displayed a diffuse infiltrative pattern without a focal lesion, which was categorized as BIRADS 4. Metastatic tumors in the breast have a wide range of sonographic appearances, with some resembling benign lesions. Any newly developed mass in a patient with a known history of extramammary malignancy, even with a probably benign US appearance, should undergo biopsy for pathologic confirmation. Copyright © 2011 Wiley Periodicals, Inc.

  10. Comparison of prenatal ultrasound findings and autopsy findings in fetuses terminated after prenatal diagnosis of malformations: an experience of a clinical genetics center.

    PubMed

    Phadke, Shubha R; Gupta, Ashutosh

    2010-06-01

    To compare antenatal diagnosis with post mortem examination findings in the pregnancies terminated after prenatal detection of anomalies and to evaluate the potential benefits of post mortem examination for counseling regarding the risk of recurrence. This is a retrospective study over a 7-year period from 2001 to 2007. Pregnancies terminated after prenatal identification of fetal malformation were evaluated by post mortem examination of 91 fetuses. Fetal autopsy provided a definite diagnosis in 72/91 (79.1%) of the cases. Fetal autopsy confirmed the sonographic findings in 89 of 91 cases (97.8%). In 66 (72.5%) cases there was complete concordance between prenatal and autopsy findings, while in 23 cases there was major concordance. There were 49 cases with isolated malformations, 41 cases with multiple (89) malformations, and, in one case, no malformation was found at autopsy. Of the 89 associated malformations, 39 (43.8%) were detected prenatally and 50 (56.2%) were detected on fetal autopsy. The additional malformations detected on autopsy included 38 major and 12 minor malformations Additional findings helped in redefining the diagnosis and the risk of recurrence in 30 of 91 (33%) cases. The present study emphasizes the importance of autopsy in providing accurate etiologic diagnosis necessary for genetic counseling.

  11. Prenatal diagnosis of osteochondrodysplasias in high risk pregnancy.

    PubMed

    Gordienko IYu; Grechanina EYa; Sopko, N I; Tarapurova, E N; Mikchailets, L P

    1996-05-03

    We collected data on 39 prenatally diagnosed osteochondrodysplasias. We detected 30 (76.9%) cases in the first and second trimesters, including 18 (46.2%) with two twins before the 24th week of gestation. Of 39 cases 11 (28.2%) had osteogenesis imperfecta (OI) type II. Verification of the prenatal diagnosis was attempted in 26 cases on the basis of the data obtained from ultrasonographs, radiographs, external examination, and autopsy protocols. The prenatal diagnosis was confirmed in 19 (73%) fetuses. In 13 cases verification was not possible because one or several investigations could not be performed. Counselling followed all identified cases with osteochondrodysplasia. We present the pedigree of two families indicating the possibility of early prenatal diagnosis of achondrogenesis type I and metatropic dysplasia. We propose indications for ultrasonographic anatomical screening with subsequent phenotype analysis in high risk pregnancy to provide for the prenatal detection of malformations and hereditary diseases.

  12. How prenatal care can improve maternal health.

    PubMed

    1993-01-01

    Prenatal care aims to preserve the health of the fetus and mother. It screens for indications of illness or pregnancy-related complications and tries to prevent them from becoming emergencies. Sufficient referral services are needed for prenatal screening to be effective. Women and their families must be motivated to go to them promptly. Often prenatal care is the first time women receive any medical care. Thus, quality care is imperative so women will again request medical care when necessary. Prenatal care providers must ask women about signs and symptoms of placenta previa and placental abruptio. They should also tell them about the gravity of hemorrhaging in late pregnancy. Referral facilities must have operative capabilities and be able to provide adequate transfusion to treat severe hemorrhage. Health workers must prevent and treat anemia in pregnant women to improve their chances of recovery from blood loss; they must also measure blood pressure and periodically test for proteinuria and edema to diagnose preeclampsia, eclampsia, and hypertension. Health workers must screen women at high risk for cephalopelvic disproportion (e.g. by assessing, height, foot size, and age) and for a malpositioned fetus and multiple pregnancies (e.g. via abdominal examination). They must also educate mothers about the importance of hygienic delivery and provide sanitary delivery kits. Unhygienic delivery conditions and untreated sexually transmitted diseases (STDs) can cause puerperal sepsis. STDs can also have other adverse effects such as ectopic pregnancy and blindness, death, or retardation of the fetus/ infant. STD screening could prevent needless suffering in many women; 5-15% of pregnant women in some developing countries have syphilis. Prenatal care should include screening for urinary tract infections which can cause preterm delivery and low birth weight. Antibiotics can treat these infections. Some pregnant women have infectious diseases which may undetected without

  13. Correlation between mammographic and sonographic findings and prognostic factors in patients with node-negative invasive breast cancer.

    PubMed

    Shin, H J; Kim, H H; Huh, M O; Kim, M J; Yi, A; Kim, H; Son, B H; Ahn, S H

    2011-01-01

    The purpose of this study was to correlate sonographic and mammographic findings with prognostic factors in patients with node-negative invasive breast cancer. Sonographic and mammographic findings in 710 consecutive patients (age range 21-81 years; mean age 49 years) with 715 node-negative invasive breast cancers were retrospectively evaluated. Pathology reports relating to tumour size, histological grade, lymphovascular invasion (LVI), extensive intraductal component (EIC), oestrogen receptor (ER) status and HER-2/neu status were reviewed and correlated with the imaging findings. Statistical analysis was performed using logistic regression analysis and intraclass correlation coefficient (ICC). On mammography, non-spiculated masses with calcifications were associated with all poor prognostic factors: high histological grade, positive LVI, EIC, HER-2/neu status and negative ER. Other lesions were associated with none of these poor prognostic factors. Hyperdense masses on mammography, the presence of mixed echogenicity, posterior enhancement, calcifications in-or-out of masses and diffusely increased vascularity on sonography were associated with high histological grade and negative ER. Associated calcifications on both mammograms and sonograms were correlated with EIC and HER-2/neu overexpression. The ICC value for the disease extent was 0.60 on mammography and 0.70 on sonography. Several sonographic and mammographic features can have a prognostic value in the subsequent treatment of patients with node-negative invasive breast cancer. Radiologists should pay more attention to masses that are associated with calcifications because on both mammography and sonography associated calcifications were predictors of positive EIC and HER-2/neu overexpression.

  14. [Social factors associated with use of prenatal care in Ecuador].

    PubMed

    Sánchez-Gómez, Amaya; Cevallos, William; Grijalva, Mario J; Silva-Ayçaguer, Luis C; Tamayo, Susana; Jacobson, Jerry O; Costales, Jaime A; Jiménez-Garcia, Rodrigo; Hernández-Barrera, Valentín; Serruya, Suzanne; Riera, Celia

    2016-11-01

    Prenatal care is a pillar of public health, enabling access to interventions including prevention of mother-to-child transmission of HIV and congenital syphilis. This paper describes social factors related to use of prenatal care in Ecuador. In 2011 and 2012, participant clinical history and interview information was analyzed from a national probability sample of 5 998 women presenting for delivery or miscarriage services in 15 healthcare facilities in Ecuador, to estimate prevalence of HIV, syphilis, and Chagas disease, and prenatal care coverage. The study found that 94.1% of women had attended at least one prenatal visit, but that attendance at no less than four visits was 73.1%. Furthermore, lower educational level, greater number of pregnancies, occupation in the agriculture or livestock sector, and membership in ethnic indigenous, Afro-Ecuadorian, or other minority groups were factors associated with lack of use (no prenatal visits) or insufficient use of prenatal care (fewer than four visits or first visit at >20 weeks gestation) in Ecuador. These results point to persistence of marked inequalities in access to and use of prenatal health services attributable to socioeconomic factors and to the need to strengthen strategies to address them, to reach the goal of universal prenatal care coverage.

  15. Decision-making in the referral process of sonographers in primary care screening centers.

    PubMed

    Oosterhuis, Jolande J; Gillissen, Ada; Snijder, Claudia A; Stiggelbout, Anne; Haak, Monique C

    2016-06-01

    To explore the decision-making process (whether or not to refer) of sonographers performing the 20 weeks standard anomaly scan (SAS) in the screening setting. A survey was sent to SAS-sonographers; it assessed experience, training, volume, type of practice, perceived difficulty per organ system, feelings after missing anomalies and reasons for uncertainty and doubt concerning referral. The response rate was 50%. Sonographers tend to seek reasons for uncertainty in patient factors and not in their skills or difficulty of the scan. Most mentioned reasons to refer in case of doubt were repeated visualization of a possible abnormality (98%). We hypothesize that the need of repeated imaging of an abnormality might partly explain why some fetal anomalies are still being missed. Sonographers with limited experience and low volume SAS more often revised, referred and asked colleagues for help than experienced sonographers with high volume SAS. In cases of a missed diagnosis, sonographers frequently blamed internal factors (personal failure 71%). Level of experience and volume of SAS influence revision and referral rates. Personal factors seem to play a role in the decision-making process of screening sonographers. Future research should focus on these personal factors, to optimize screening ultrasound programs. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  16. A ‘snapshot’ of the visual search behaviours of medical sonographers

    PubMed Central

    Brennan, Patrick C; Pietrzyk, Mariusz; Clarke, Jillian; Chekaluk, Eugene

    2015-01-01

    Abstract Introduction: Visual search is a task that humans perform in everyday life. Whether it involves looking for a pen on a desk or a mass in a mammogram, the cognitive and perceptual processes that underpin these tasks are identical. Radiologists are experts in visual search of medical images and studies on their visual search behaviours have revealed some interesting findings with regard to diagnostic errors. In Australia, within the modality of ultrasound, sonographers perform the diagnostic scan, select images and present to the radiologist for reporting. Therefore the visual task and potential for errors is similar to a radiologist. Our aim was to explore and understand the detection, localisation and eye‐gaze behaviours of a group of qualified sonographers. Method: We measured clinical performance and analysed diagnostic errors by presenting fifty sonographic breast images that varied on cancer present and degree of difficulty to a group of sonographers in their clinical workplace. For a sub‐set of sonographers we obtained eye‐tracking metrics such as time‐to‐first fixation, total visit duration and cumulative dwell time heat maps. Results: The results indicate that the sonographers' clinical performance was high and the eye‐tracking metrics showed diagnostic error types similar to those found in studies on radiologist visual search. Conclusion: This study informs us about sonographer visual search patterns and highlights possible ways to improve diagnostic performance via targeted education. PMID:28191244

  17. Comparison of sonographically guided intra-articular injections at 3 different sites of the knee.

    PubMed

    Park, Yongbum; Lee, Sang Chul; Nam, Hee-Seung; Lee, Jihae; Nam, Sang Hyun

    2011-12-01

    Sonographically guided injections show more accuracy than blind injections, but there are no reports comparing sonographically guided intra-articular injection approaches. This study examined the accuracy of sonographically guided intra-articular injections at 3 different sites of the knee using medial, midlateral, and superolateral portals. Sonographically guided intra-articular injections and radiology evaluations were performed on 126 knees with osteoarthritis (Kellgren-Lawrence grade 2 or 3). Six milliliters of mixed material containing 1% lidocaine (1 mL), 20 mg of triamcinolone (1 mL), and a nonionic contrast agent (4 mL) was injected into the intra-articular space of the knee through the medial, midlateral, and superolateral portals. After the sonographically guided intra-articular injection into the knee joint, a radiographic image was taken to determine whether the injected material had reached the intra-articular space or infiltrated into the soft tissue. Sonographically guided intra-articular injections in the midlateral portal (95%; P < .05) and superolateral portal (100%; P < .05) showed significantly higher accuracy than injections in the medial portal (75%). Sonographically guided intra-articular injections in the midlateral or superolateral portal may increase the accuracy of knee joint injections.

  18. Prenatal Profile of Cornelia de Lange Syndrome (CdLS): A Review of 53 Pregnancies

    PubMed Central

    Clark, Dinah M.; Sherer, Ilana; Deardorff, Matthew A.; Byrne, Janice L.B.; Loomes, Kathleen M.; Nowaczyk, Malgorzata J.M.; Jackson, Laird G.; Krantz, Ian D.

    2012-01-01

    Cornelia de Lange Syndrome (CdLS) is a multisystem developmental disorder characterized by growth retardation, cognitive impairment, external and internal structural malformations, and characteristic facial features. Currently, there are no definitive prenatal screening measures that lead to the diagnosis of CdLS. In this study, documented prenatal findings in CdLS syndrome were analyzed towards the development of a prenatal profile predictive of CdLS. We reviewed 53 cases of CdLS (29 previously reported and 24 unreported) in which prenatal observations/findings were available. The review of these cases revealed a pattern of sonographic findings, including obvious associated structural defects, growth restriction, as well as a more subtle, but strikingly characteristic, facial profile, suggestive of a recognizable prenatal ultrasonographic profile for CdLS. In addition the maternal serum marker, PAPP-A, may be reduced and fetal nuchal translucency may be increased in some pregnancies when measured at an appropriate gestational age. In conclusion, CdLS can be prenatally diagnosed or readily ruled out in a family with a known mutation in a CdLS gene. The characteristic ultrasonographic profile may allow for prenatal diagnosis of CdLS in 1) subsequent pregnancies to a couple with a prior child with CdLS in whom a mutation has not been identified or 2) when there are unexplained pregnancy signs of fetal abnormality such as oligo- or polyhydramnios, a low maternal serum PAPP-A level and/or increased nuchal translucency, fetal growth retardation, or structural anomalies consistent with CdLS. PMID:22740382

  19. Congenital cystic adenomatoid malformation: impact of prenatal diagnosis and changing strategies in the treatment of the asymptomatic patient.

    PubMed

    Marshall, K W; Blane, C E; Teitelbaum, D H; van Leeuwen, K

    2000-12-01

    This study was designed to assess the effect of prenatal sonographic diagnosis on the treatment of congenital cystic adenomatoid malformation of the lung. The medical records of 27 patients with pathologically proven congenital cystic adenomatoid malformations were retrospectively reviewed. Patients were divided into four groups based on mode of presentation: with or without abnormal findings on prenatal sonography and with or without symptoms at birth. Age at diagnosis, age at surgical intervention, complications, and length of hospital stay were recorded for each group. Twenty-seven patients with 31 proven congenital cystic adenomatoid malformations were included. Eleven patients underwent prenatal sonography establishing the diagnosis (6 asymptomatic at birth, 5 symptomatic), and 16 did not have a prenatal diagnosis (10 asymptomatic at birth, 6 symptomatic). In the symptomatic populations, prenatal diagnosis had no impact on age at surgery, length of stay, or surgical complication rate (p = 0.78-0.83). In the asymptomatic population, prenatal diagnosis allowed early diagnosis (p < 0.001) and resection in the asymptomatic period. It was also associated with a shorter length of stay at the time of surgical resection (mean time, 4.2 days for patients with prenatal diagnosis versus 12.9 days for those without it;p < 0.001) and with a trend toward lower serious complication rate (3 patients without prenatal diagnosis versus 1 patient with it). Prenatal sonography provides the radiologist a means to identify congenital cystic adenomatoid malformations in a population of infants who are asymptomatic at birth. Surgical intervention in the asymptomatic infant is associated with a shorter length of stay, a trend toward fewer complications, and decreased medical cost compared with intervening after symptoms develop.

  20. Prenatal Influences on the Brain.

    ERIC Educational Resources Information Center

    Eliot, Lise

    2002-01-01

    Gives an overview of embryology and prenatal brain, sensory, and motor development. Includes discussion of maternal nutrition, chemical exposure, prenatal drug and alcohol hazards, cigarette smoking, and some causes of neural tube defects and premature birth. (Author/KB)

  1. Prenatal Influences on the Brain.

    ERIC Educational Resources Information Center

    Eliot, Lise

    2002-01-01

    Gives an overview of embryology and prenatal brain, sensory, and motor development. Includes discussion of maternal nutrition, chemical exposure, prenatal drug and alcohol hazards, cigarette smoking, and some causes of neural tube defects and premature birth. (Author/KB)

  2. Prenatal Tests for Down Syndrome

    MedlinePlus

    PRENATAL TESTS FOR DOWN SYNDROME S HARE W ITH W OMEN PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? Down syndrome is a common birth defect that includes mental retardation and— often— heart ...

  3. Prenatal Care: Third Trimester Visits

    MedlinePlus

    Healthy Lifestyle Pregnancy week by week During the third trimester, prenatal care might include vaginal exams to check the baby's ... 2015 Original article: http://www.mayoclinic.org/healthy-lifestyle/pregnancy-week-by-week/in-depth/prenatal-care/art- ...

  4. Prenatal Education for Pregnant Adolescents.

    ERIC Educational Resources Information Center

    Timberlake, Bobbi; And Others

    1987-01-01

    This paper describes prenatal education classes offered at Teen Pregnancy Service. Outcome data for 66 pregnant teens shows significant changes in prenatal knowledge following the classes. (Author/MT)

  5. Prenatal Intuitive Coparenting Behaviors

    PubMed Central

    Darwiche, Joëlle; Fivaz-Depeursinge, Elisabeth; Corboz-Warnery, Antoinette

    2016-01-01

    Micro-analytic research on intuitive parenting behaviors has shed light on the temporal dynamics of parent and child interactions. Observations have shown that parents possess remarkable implicit communicative abilities allowing them to adapt to the clues infants give and therefore stimulate the development of many of the infants’ abilities, such as communication skills. This work focused on observing intuitive parenting behaviors that were synchronized and coordinated between the parents. We call them “prenatal intuitive coparenting behaviors” and used an observation task – the Prenatal Lausanne Trilogue Play procedure – to observe them. For this task, the parents role-play their first encounter with their future baby, represented by a doll. Two cases from a study on pregnancy after assisted reproductive technology are provided to illustrate how these behaviors manifest themselves. The observations from the first case suggest that expectant parents can offer the baby a coparental framework, whereas the observations from the second case show that opportunities for episodes of prenatal intuitive coparenting can be missed due to certain relationship dynamics. These kinds of observations deepen our knowledge of the prenatal emergence of the coparenting relationship and allow us to hone our strategies for intervening during pregnancy with couples who experience coparenting difficulties. Furthermore, these observations provide a novel and complementary perspective on prenatal intuitive parenting and coparenting behaviors. PMID:27833576

  6. Noninvasive prenatal diagnosis.

    PubMed

    Cheng, Wei-Lun; Hsiao, Ching-Hua; Tseng, Hua-Wei; Lee, Tai-Ping

    2015-08-01

    Prenatal examination plays an important role in present medical diagnosis. It provides information on fetal health status as well as the diagnosis of fetal treatment feasibility. The diagnosis can provide peace of mind for the perspective mother. Timely pregnancy termination diagnosis can also be determined if required. Amniocentesis and chorionic villus sampling are two widely used invasive prenatal diagnostic procedures. To obtain complete fetal genetic information and avoid endangering the fetus, noninvasive prenatal diagnosis has become the vital goal of prenatal diagnosis. However, the development of a high-efficiency separation technology is required to obtain the scarce fetal cells from maternal circulation. In recent years, the rapid development of microfluidic systems has provided an effective method for fetal cell separation. Advantages such as rapid analysis of small samples, low cost, and various designs, greatly enhance the efficiency and convenience of using microfluidic systems for cell separation. In addition, microfluidic disks can be fully automated for high throughput of rare cell selection from blood samples. Therefore, the development of microfluidic applications in noninvasive prenatal diagnosis is unlimited. Copyright © 2015. Published by Elsevier B.V.

  7. Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature.

    PubMed

    Berg, C; Geipel, A; Germer, U; Pertersen-Hansen, A; Koch-Dörfler, M; Gembruch, U

    2001-07-01

    Fraser syndrome (cryptophthalmos-syndactyly syndrome) is an autosomal recessive multiple malformation syndrome whose major manifestations are cryptophthalmos, syndactyly, laryngeal atresia and urogenital defects. Enlarged hyperechogenic lungs contrasted by oligohydramnios, non-visualization of the kidneys and microphthalmia were sonographic markers leading to the prenatal detection of this rare autosomal recessive disorder in earlier reports. We report a case of Fraser syndrome diagnosed at 16 weeks' gestational age in a woman whose previous pregnancy was terminated because of multiple fetal malformations. Abnormal sonographic findings included bilateral agenesis of the kidneys, dilated trachea and main bronchi (suggestive of high airway obstruction), hyperechogenic lungs, syndactyly of the fingers, hepatomegaly, oligohydramnios and hydrops placentae. Face and cerebral structures appeared normal. These findings together with those of the previously affected child led to the diagnosis of Fraser syndrome. The parents elected to terminate the pregnancy. Autopsy results were confirmatory. In conclusion, prenatal diagnosis of Fraser syndrome is possible in the hands of an expert, but due to the great variety of possible malformations the diagnosis will remain doubtful in most cases in which no previous child is affected.

  8. Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature.

    PubMed

    Nazzaro, Alfredo; Della Monica, Matteo; Lonardo, Fortunato; Di Blasi, Arturo; Baffico, Maria; Baldi, Maurizia; Nazzaro, Giovanni; De Placido, Giuseppe; Scarano, Gioacchino

    2004-11-01

    Pfeiffer syndrome is characterized by bilateral coronal craniosynostosis, midface hypoplasia, beaked nasal tip, broad and medially deviated thumbs and great toes. Originally, it was described in eight persons from three generations in a pedigree consistent with an autosomal dominant transmission. Since then, several reports have documented its high clinical and genetic heterogeneity. The condition is usually detected in the newborn period or later, and very few prenatal ultrasound diagnoses have been reported. We present a case of Pfeiffer syndrome prenatally diagnosed at 20 weeks' gestation, in which the sonographic features of craniosynostosis, hypertelorism associated with an extreme proptosis, and broad thumb led to the diagnosis, confirmed after termination of pregnancy by dysmorphological, pathological and radiological evaluation. DNA analysis of the fibroblast growth factor receptor 2 (FGFR2) showed a missense mutation consisting in a transversion G --> C at nucleotide 870. This led to a Trp290Cys amino acidic substitution. We discuss the relevant findings of our and previously published cases. Our report demonstrates that a careful sonographic examination can lead to an early prenatal diagnosis of Pfeiffer syndrome also in cases without cloverleaf skull.

  9. Sonographic appearance of angioedema in local allergic reactions to insect bites and stings.

    PubMed

    Tay, Ee Tein; Tsung, James W

    2014-09-01

    Soft tissue infections and angioedema from insect bites and stings may be difficult to differentiate by inspection. We present sonographic findings of 4 cases of soft tissue swelling from insect bites and stings suggestive of angioedema. Sonographic features of soft tissue angioedema consist of thickened subcutaneous tissue layers with multiple linear, horizontal, striated, and hypoechoic lines following the tissue planes between soft tissue layers. In addition to the history and physical examination, sonographic findings may assist in differentiating between local allergic reactions and cellulitis in patients with insect bites and stings. Further study is warranted for clinical application.

  10. The assessment of fetal behavior in early pregnancy: comparison between 2D and 4D sonographic scanning.

    PubMed

    Andonotopo, Wiku; Medic, Marijana; Salihagic-Kadic, Aida; Milenkovic, Dragan; Maiz, Nerea; Scazzocchio, Elena

    2005-01-01

    To determine the accuracy of 4D sonography in the assessment of embryonic and early fetal motor activity in the first trimester of normal pregnancy, in comparison to the 2D sonography. Fifty pregnant women between 6-14 weeks of gestation with singleton pregnancy were assigned for the investigation. Two dimensional and four dimensional recordings were displayed on the screen and recorded on the videotape during the 15 minutes observation period. General body, head and limb movements recorded by 2D sonography were notable by 4D technique in the same gestational age. These movements were presented collectively with maximum, minimum, and median frequencies during 15 minutes observation period. Spearman rank order correlation reached statistical significance (P<0.05) between the frequencies of all observed movement patterns assessed by two different techniques. Several movement patterns, such as sideway bending, hiccup, breathing movements, mouth opening and facial movements could be observed only by 2D sonographic technique in this period of gestation. Presently, both 2D and 4D methods are required for the assessment of early fetal motor development and motor behavior. It is reasonable to expect that such technological improvement may provide some new information about the intrauterine motor activity and facilitate the prenatal detection of some neurological disorders.

  11. Prenatal ultrasound of regional akinesia with Pena-Shokier phenotype.

    PubMed

    Tongsong, T; Chanprapaph, P; Khunamornpong, S

    2000-05-01

    This report describes sonographic features of the Pena-Shokeir phenotype secondary to regional akinesia at 28 weeks of gestation with maternal perception of good fetal movement. The diagnosis was based on the findings of no fetal activity in some parts of the body (upper limbs, a part of the face, and thorax), with deformation sequence of fixed flexion at wrist, elbow, and shoulder joints, fixed open mouth, fetal growth restriction, lung hypoplasia, polyhydramnios and normal chromosome study. Surprisingly, fetal akinesia involved only the upper limbs, a part of the face, and chest, whereas the lower limbs were completely normal in both morphology and activity. With vibroacoustic stimulation, the response of fetal heart rate acceleration, gross body movement including fetal head, spine and lower limb movement were observed, but the movement of the upper limbs and fetal breathing were completely absent. Spontaneous labour and delivery occurred at 29 weeks' gestation. Postnatal autopsy confirmed the prenatal findings. In conclusion, prenatal sonography plays an important role not only in detecting Pena-Shokeir phenotype but also in providing the detailed pattern of fetal akinesia. Finally, this case reaffirms the concept that function is an integral part of normal development.

  12. Human prenatal diagnosis

    SciTech Connect

    Filkins, K.; Russo, J.F.

    1985-01-01

    Advances in the field of prenatal diagnosis have been rapid during the past decade. Moreover, liberal use of birth control methods and restriction of family size have placed greater emphasis on optimum outcome of each pregnancy. There are many prenatal diagnostic techniques of proven value; the risks, including false negatives and false positives, are known. With the rapid proliferation of new and experimental techniques, many disorders are potential diagnosable or even treatable; however, risk factors are unknown and issues relating to quality control have not been resolved. These problems are readily appreciated in the dramatic new techniques involving recombinant DNA, chorion villus sampling, and fetal surgery. Unfortunately, clinicians may not appreciate the difficulties that may also be encountered in the more mundane prenatal diagnostic tests such as ultrasonography or enzymatic testing. The aim of this volume is to clarify and rationalize certain aspects of diagnosis, genetic counseling, and intervention. New and experimental techniques are presented in the light of current knowledge.

  13. Consumerism in prenatal diagnosis: a challenge for ethical guidelines

    PubMed Central

    Henn, W.

    2000-01-01

    The ethical guidelines for prenatal diagnosis proposed by the World Health Organisation (WHO), as well as by national regulations, only refer to paternity and gender of the fetus as unacceptable, disease-unrelated criteria for prenatal selection, as no other such parameters are at hand so far. This perspective is too narrow because research on complex genetic systems such as cognition and ageing is about to provide clinically applicable tests for genetic constituents of potentially desirable properties such as intelligence or longevity which could be misused as parameters for prenatal diagnosis. Moreover, there is an increasing number of prenatally testable genetic traits, such as heritable deafness, which are generally regarded as pathological but desired by some prospective parents and taken into account as parameters for pro-disability selection. To protect prenatal diagnosis from ethically unacceptable genetic consumerism, guidelines must be clarified as soon as possible and updated towards a worldwide restriction of prenatal genetic testing to immediately disease-determining traits. Key Words: Genetics • prenatal diagnosis • ethics • consumerism PMID:11129845

  14. [Sonographic imaging of physiological ovaries in the cat].

    PubMed

    Conze, Theresa; Wehrend, Axel

    2017-06-20

    Ultrasound evaluation of the ovaries is an important element of the gynaecological examination. Although it is a well-established method used for many domestic animals, it is an uncommon procedure in cats. This article describes the technical requirements, the examination procedure, and the sonographic appearance of the physiological ovary in the cat. The examination can be performed with the cat in lateral position or dorsal recumbency. Usually the ovaries are found caudal to the kidneys which serve as lead structure. The median size of an ovary in anestrous is 0.9 cm (length) x 0.5 cm (height) x 0.4 cm (width). The ovaries of cyclical (follicular and luteal phase) cats are easier to detect than ovaries of cats in interestrous or anestrous.

  15. Role of Sonographic Imaging in Occupational Therapy Practice

    PubMed Central

    2015-01-01

    Occupational therapy practice is grounded in the delivery of occupation-centered, patient-driven treatments that engage clients in the process of doing to improve health. As emerging technologies, such as medical imaging, find their way into rehabilitation practice, it is imperative that occupational therapy practitioners assess whether and how these tools can be incorporated into treatment regimens that are dually responsive to the medical model of health care and to the profession’s foundation in occupation. Most medical imaging modalities have a discrete place in occupation-based intervention as outcome measures or for patient education; however, sonographic imaging has the potential to blend multiple occupational therapy practice forms to document treatment outcomes, inform clinical reasoning, and facilitate improved functional performance when used as an accessory tool in direct intervention. Use of medical imaging is discussed as it relates to occupational foundations and the professional role within the context of providing efficient, effective patient-centered rehabilitative care. PMID:25871607

  16. Axillary lymph nodes in breast cancer patients: sonographic evaluation*

    PubMed Central

    Pinheiro, Denise Joffily Pereira da Costa; Elias, Simone; Nazário, Afonso Celso Pinto

    2014-01-01

    Axillary staging of patients with early-stage breast cancer is essential in the treatment planning. Currently such staging is intraoperatively performed, but there is a tendency to seek a preoperative and less invasive technique to detect lymph node metastasis. Ultrasonography is widely utilized for this purpose, many times in association with fine-needle aspiration biopsy or core needle biopsy. However, the sonographic criteria for determining malignancy in axillary lymph nodes do not present significant predictive values, producing discrepant results in studies evaluating the sensitivity and specificity of this method. The present study was aimed at reviewing the literature approaching the utilization of ultrasonography in the axillary staging as well as the main morphological features of metastatic lymph nodes. PMID:25741091

  17. Objective assessment of sonographic: quality II acquisition information spectrum.

    PubMed

    Nguyen, Nghia Q; Abbey, Craig K; Insana, Michael F

    2013-04-01

    This paper describes a task-based, information-theoretic approach to the assessment of image quality in diagnostic sonography. We expand the Kullback-Leibler divergence metric J, which quantifies the diagnostic information contained within recorded radio-frequency echo signals, into a spatial-frequency integral comprised of two spectral components: one describes patient features for low-contrast diagnostic tasks and the other describes instrumentation properties. The latter quantity is the acquisition information spectrum (AIS), which measures the density of object information that an imaging system is able to transfer to the echo data at each spatial frequency. AIS is derived based on unique properties of acoustic scattering in tissues that generate object contrast. Predictions made by the J integral expression were validated through Monte Carlo studies using echo-signal data from simulated lesions. Our analysis predicts the diagnostic performance of any sonographic system at specific diagnostic tasks based on engineering properties of the instrument that constitute image quality.

  18. Sonographic anatomy of the pubic symphysis in healthy nulliparous women.

    PubMed

    Becker, Ines; Stringer, Mark D; Jeffery, Ruth; Woodley, Stephanie J

    2014-10-01

    Pregnancy-related symphyseal pain is a condition commonly encountered by clinicians but its pathogenesis is poorly understood. The pubic symphysis is readily visualized with ultrasound, yet the normal sonographic anatomy of the joint has not been accurately documented. This study aimed to describe the anatomy of the pubic symphysis in healthy, nulliparous women using ultrasound. An experienced and inexperienced sonographer scanned the joint in 30 female volunteers (mean age 26 years). Interobserver and intraobserver reliability of ultrasound measurements were examined and the accuracy of these measurements was validated by ultrasound and dissection of six female cadaver pelves (mean age 75 years). In healthy young women, pubic symphysis morphology varied, and six categories of anterosuperior joint shape were defined. Mean values of several anatomic parameters were obtained in supine and standing positions: joint width (widest 10.1 mm, narrowest 2.6 mm); superior pubic ligament (SPL) length and depth (41.4 and 3.4 mm, respectively); and pubic crest length (left 24.4 mm, right 24.4 mm). Statistically significant relationships between SPL width and depth and anthropometric variables (body mass index, pelvic width, and body fat percentage) were established. Larger ultrasonographic measurements, such as wide joint width and SPL length, could be measured more reliably than smaller measurements, such as narrow joint width and SPL depth, in both healthy volunteers and cadavers. Findings from this study provide normative reference data for examination of the pubic symphysis in pregnant women and may therefore be relevant to understand pregnancy-related symphyseal pain.

  19. Quantitative sonographic image analysis for hepatic nodules: a pilot study.

    PubMed

    Matsumoto, Naoki; Ogawa, Masahiro; Takayasu, Kentaro; Hirayama, Midori; Miura, Takao; Shiozawa, Katsuhiko; Abe, Masahisa; Nakagawara, Hiroshi; Moriyama, Mitsuhiko; Udagawa, Seiichi

    2015-10-01

    The aim of this study was to investigate the feasibility of quantitative image analysis to differentiate hepatic nodules on gray-scale sonographic images. We retrospectively evaluated 35 nodules from 31 patients with hepatocellular carcinoma (HCC), 60 nodules from 58 patients with liver hemangioma, and 22 nodules from 22 patients with liver metastasis. Gray-scale sonographic images were evaluated with subjective judgment and image analysis using ImageJ software. Reviewers classified the shape of nodules as irregular or round, and the surface of nodules as rough or smooth. Circularity values were lower in the irregular group than in the round group (median 0.823, 0.892; range 0.641-0.915, 0.784-0.932, respectively; P = 3.21 × 10(-10)). Solidity values were lower in the rough group than in the smooth group (median 0.957, 0.968; range 0.894-0.986, 0.933-0.988, respectively; P = 1.53 × 10(-4)). The HCC group had higher circularity and solidity values than the hemangioma group. The HCC and liver metastasis groups had lower median, mean, modal, and minimum gray values than the hemangioma group. Multivariate analysis showed circularity [standardized odds ratio (OR), 2.077; 95 % confidential interval (CI) = 1.295-3.331; P = 0.002] and minimum gray value (OR 0.482; 95 % CI = 0.956-0.990; P = 0.001) as factors predictive of malignancy. The combination of subjective judgment and image analysis provided 58.3 % sensitivity and 89.5 % specificity with AUC = 0.739, representing an improvement over subjective judgment alone (68.4 % sensitivity, 75.0 % specificity, AUC = 0.701) (P = 0.008). Quantitative image analysis for ultrasonic images of hepatic nodules may correlate with subjective judgment in predicting malignancy.

  20. Prenatal diagnosis of genetic disorders.

    PubMed Central

    Niermeijer, M F; Sachs, E S; Jahodova, M; Tichelaar-Klepper, C; Kleijer, W J; Galjaard, H

    1976-01-01

    Three hundred and fifty pregnancies were monitored by transabdominal amniocentesis in the fourteenth to sixteenth week of gestation followed by karyotyping or biochemica assays of cultured amniotic fluid cells and analysis of alpha-fetoprotein in the amniotic fluid supernatant. The pregnancy was interrupted in 36 cases (10%) either becasue of a fetal abnormality or the presence of a male fetus in pregnancies at risk for an X-linked disease. Four chromosomal aberrations were found in 87 pregnancies tested because of advanced maternal age. In 101 pregnancies with a recurrence risk of Down's syndrome, 2 fetuses with an abnormal karyotype were detected. In 11 cases, in which 1 parent was a carrier of a balanced translocation, 2 unbalanced fetal karyotypes were found. Fetal chromosome studies in 43 pregancies at risk for an X-linked disease indicated the presence of a male fetus in 21 cases. Prenatal diagnosis of 11 different metabolic diseases was performed in a total of 34 cases. Microchemical techniques were used to allow completion of the diagnosis of seven different enzyme deficiencies within 9 to 22 days after amniocentesis. Alpha-fetoprotein assay in the amniotic fluid supernatant of 47 pregnancies at risk for an open neural tube defect resulted in the detection of 3 anencephalic fetuses during the second half of pregnancy. The safety and reliability of amniocentesis and the possible effects on the outcome of pregnancy are evaluated. Prenatal diagnosis offers a promising alternative for parents who are at risk of having a child with a genetic disease which can be detected in amniotic fluid or in cultured amniotic fluid cells. Images PMID:58990

  1. Microscopic chromosome Xp distal deletions--a challenging issue in prenatal genetic counseling.

    PubMed

    Sukenik-Halevy, Rivka; Reches, Adi; Bar-Shira, Anat; Simchoni, Sharon; Goldstein, Myriam; Orr-Ortreger, Avi; Yaron, Yuval; Ben-Shachar, Shay

    2014-06-01

    A prenatal diagnosis of chromosome X short arm deletions may present a challenge in prenatal genetic counseling. We present clinical and molecular data of carriers of Xp distal deletions. We assessed prenatal and postnatal phenotypes of individuals from three families with large Xp distal deletions and from a fourth family with a small Xp distal deletion. The work-up included karyotyping, chromosomal microarray analysis, and assessment of the X inactivation pattern. Five out of eight women with large deletions had a short stature (<3rd percentile). Subjects from one family had developmental and emotional problems. All female carriers with small deletions had markedly short stature, whereas the men had mildly short stature. Chromosomal microarray analysis revealed 11.7-19.3 Mb deletions in three families and a small ~1 Mb deletion in the fourth. The pseudoautosomal region 1 of the X chromosome was deleted in two families with large deletions. X inactivation was skewed in all tested cases with large deletions. Xp distal deletions are mainly associated with short stature. Skewing of the abnormal X chromosome may attenuate the phenotype in cases with large deletions. We suggest that prenatal evaluation in such cases should include sonographic follow-up and assessment of the X inactivation pattern. © 2014 John Wiley & Sons, Ltd.

  2. Prenatal Genetic Testing Chart

    MedlinePlus

    ... www.acog.org/Patients/FAQs/Prenatal-Genetic-Diagnostic-Tests › › Resources & Publications Committee Opinions Practice Bulletins Patient Education Green Journal Clinical Updates Practice Management Coding Health Info Technology Professional Liability Managing Your Practice Patient Safety & Quality ...

  3. Prenatal Care Training.

    ERIC Educational Resources Information Center

    Hagen, Michael

    Described is the development and evaluation of a prenatal instructional program designed to prevent birth defects. It is explained that the program, composed of five slide tape units on such topics as nutrition and environmental factors, was field tested and found effective with 97 participants (pregnant high school students, nursing students, and…

  4. Prenatal Whole Genome Sequencing

    PubMed Central

    Donley, Greer; Hull, Sara Chandros; Berkman, Benjamin E.

    2014-01-01

    With whole genome sequencing set to become the preferred method of prenatal screening, we need to pay more attention to the massive amount of information it will deliver to parents—and the fact that we don't yet understand what most of it means. PMID:22777977

  5. Prenatal diagnosis: whose right?

    PubMed Central

    Heyd, D

    1995-01-01

    The question who is the subject of the right to prenatal diagnosis may be answered in four ways: the parents, the child, society, or no one. This article investigates the philosophical issues involved in each of these answers, which touch upon the conditions of personal identity, the principle of privacy, the scope of social responsibility, and the debate about impersonalism in ethics. PMID:8558544

  6. Sonographic visibility of breast tissue markers: a tissue phantom comparison study

    PubMed Central

    Seow, James Han‐Su; Phillips, Michael

    2015-01-01

    Abstract Rationale and objectives: Several commercially available breast tissue markers are promoted as being sonographically visible, allowing for subsequent targeting using ultrasound. The aim of this study was to compare the visibility of selected sonographic markers with the use of tissue phantoms. Materials and methods: Seven different markers were deployed into chicken and beef tissue phantoms, including a non‐sonographically enhanced marker used as a baseline. Six participants assessed their sonographic visibility and needle targeted the markers using ultrasound. The sonographic visibility of each marker was graded, with scores corrected for accuracy following mammographic review of needle targeting position. Results: Only four of the six “ultrasound enhanced” markers demonstrated statistically significant greater visibility than the non‐sonographically designed marker (P range < 0.001 to 0.04). Marker size (P < 0.001) and composition (P < 0.004) were shown to be contributing factors, with the composition of the BiomarC™ (Carbon Medical Technologies Inc, St Paul, MN, USA) demonstrating the highest conspicuity adjusted for length. Conclusion: There is significant variance in the visibility of breast tissue markers purported to be visible on ultrasound. Marker size, composition and possibly shape are contributory factors, with the utilisation of non‐metallic components associated with improved conspicuity. Our study provides a basis for further determination of optimal marker qualities, and we recommend evaluation with a larger sample size and an “in‐vivo” technique. PMID:28191161

  7. Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system).

    PubMed

    Nguyen, Hiep T; Benson, Carol B; Bromley, Bryann; Campbell, Jeffrey B; Chow, Jeanne; Coleman, Beverly; Cooper, Christopher; Crino, Jude; Darge, Kassa; Herndon, C D Anthony; Odibo, Anthony O; Somers, Michael J G; Stein, Deborah R

    2014-12-01

    Urinary tract (UT) dilation is sonographically identified in 1-2% of fetuses and reflects a spectrum of possible uropathies. There is significant variability in the clinical management of individuals with prenatal UT dilation that stems from a paucity of evidence-based information correlating the severity of prenatal UT dilation to postnatal urological pathologies. The lack of correlation between prenatal and postnatal US findings and final urologic diagnosis has been problematic, in large measure because of a lack of consensus and uniformity in defining and classifying UT dilation. Consequently, there is a need for a unified classification system with an accepted standard terminology for the diagnosis and management of prenatal and postnatal UT dilation. A consensus meeting was convened on March 14-15, 2014, in Linthicum, Maryland, USA to propose: 1) a unified description of UT dilation that could be applied both prenatally and postnatally; and 2) a standardized scheme for the perinatal evaluation of these patients based on sonographic criteria (i.e. the classification system). The participating societies included American College of Radiology, the American Institute of Ultrasound in Medicine, the American Society of Pediatric Nephrology, the Society for Fetal Urology, the Society for Maternal-Fetal Medicine, the Society for Pediatric Urology, the Society for Pediatric Radiology and the Society of Radiologists in Ultrasounds. The recommendations proposed in this consensus statement are based on a detailed analysis of the current literature and expert opinion representing common clinical practice. The proposed UTD Classification System (and hence the severity of the UT dilation) is based on six categories in US findings: 1) anterior-posterior renal pelvic diameter (APRPD); 2) calyceal dilation; 3) renal parenchymal thickness; 4) renal parenchymal appearance; 5) bladder abnormalities; and 6) ureteral abnormalities. The classification system is stratified based on

  8. Prenatal programming: adverse cardiac programming by gestational testosterone excess

    PubMed Central

    Vyas, Arpita K.; Hoang, Vanessa; Padmanabhan, Vasantha; Gilbreath, Ebony; Mietelka, Kristy A.

    2016-01-01

    Adverse events during the prenatal and early postnatal period of life are associated with development of cardiovascular disease in adulthood. Prenatal exposure to excess testosterone (T) in sheep induces adverse reproductive and metabolic programming leading to polycystic ovarian syndrome, insulin resistance and hypertension in the female offspring. We hypothesized that prenatal T excess disrupts insulin signaling in the cardiac left ventricle leading to adverse cardiac programming. Left ventricular tissues were obtained from 2-year-old female sheep treated prenatally with T or oil (control) from days 30–90 of gestation. Molecular markers of insulin signaling and cardiac hypertrophy were analyzed. Prenatal T excess increased the gene expression of molecular markers involved in insulin signaling and those associated with cardiac hypertrophy and stress including insulin receptor substrate-1 (IRS-1), phosphatidyl inositol-3 kinase (PI3K), Mammalian target of rapamycin complex 1 (mTORC1), nuclear factor of activated T cells –c3 (NFATc3), and brain natriuretic peptide (BNP) compared to controls. Furthermore, prenatal T excess increased the phosphorylation of PI3K, AKT and mTOR. Myocardial disarray (multifocal) and increase in cardiomyocyte diameter was evident on histological investigation in T-treated females. These findings support adverse left ventricular remodeling by prenatal T excess. PMID:27328820

  9. The Prenatal Care at School Program

    ERIC Educational Resources Information Center

    Griswold, Carol H.; Nasso, Jacqueline T.; Swider, Susan; Ellison, Brenda R.; Griswold, Daniel L.; Brooks, Marilyn

    2013-01-01

    School absenteeism and poor compliance with prenatal appointments are concerns for pregnant teens. The Prenatal Care at School (PAS) program is a new model of prenatal care involving local health care providers and school personnel to reduce the need for students to leave school for prenatal care. The program combines prenatal care and education…

  10. The Prenatal Care at School Program

    ERIC Educational Resources Information Center

    Griswold, Carol H.; Nasso, Jacqueline T.; Swider, Susan; Ellison, Brenda R.; Griswold, Daniel L.; Brooks, Marilyn

    2013-01-01

    School absenteeism and poor compliance with prenatal appointments are concerns for pregnant teens. The Prenatal Care at School (PAS) program is a new model of prenatal care involving local health care providers and school personnel to reduce the need for students to leave school for prenatal care. The program combines prenatal care and education…

  11. [Sonographical diagnosis of pneumoretroperitoneum as a result of retroperitoneal perforation].

    PubMed

    Nürnberg, D; Mauch, M; Spengler, J; Holle, A; Pannwitz, H; Seitz, K

    2007-12-01

    A retroperitoneal perforation is a rare incident. It can occur as a complication of ERCP with papillotomy (0.2-0.5%). Leakage of contrast agent during endoscopy raises the suspicion that this complication has occurred but doesn't always give sufficient information about the leakage extent. In the case of extreme gas emission, a plain abdominal X-ray shows classic pneumoretroperitoneum. The abdominal CT scan can display small amounts of free air which is why it is used for diagnosis in such cases. Ultrasonography also provides a reliable diagnosis and is a good method for monitoring the progression of the condition. Alternative causes of pneumoretroperitoneum can be: trauma, inflammation, infection, tumor as well as ERCP and other interventional procedures, especially endoscopies. Presacral retroperitoneal pneumoradiography was used for the diagnosis of retroperitoneal tumors in the 70 s but is no longer used today. Perforations into the retroperitoneal space come from several locations in the gastrointestinal tract. In the different types of lesions the gas can penetrate the compartments and reach as far as the mediastinum, the intraabdominal cavity, subcutaneum (cervical) or the scrotal compartment (compartment shift). Based on 11 cases (7 perforations during ERCP, 2 perforation during colonoscopy, 2 cases with damage of the distal esophagus), we show the most extensive presentation of the sonographical picture of pneumoretroperitoneum. Typical signs on abdominal ultrasound are an increased echogenicity around the right kidney ("overcasted" or "covered" kidney), air dorsal to the gallbladder, around the duodenum and the head of the pancreas and especially ventral to the great abdominal vessel which can lead to the picture of "vanishing" vessels. The extent of free air is easy to assess. Even very small amounts are detectable ventral to the right kidney. In most cases, a conservative approach with no oral intake, antibiotic coverage, and analgesia in close

  12. Improved standards for prenatal diagnosis of citrullinemia.

    PubMed

    Miller, Marcus J; Soler-Alfonso, Claudia R; Grund, Jaime E; Fang, Ping; Sun, Qin; Elsea, Sarah H; Sutton, V Reid

    2014-07-01

    Citrullinemia type I is a urea cycle disorder caused by autosomal recessive mutations in argininosuccinate synthetase 1 (ASS1). In the classical form of this disease, symptoms manifest during the neonatal period as progressive lethargy, poor feeding, and central nervous system depression secondary to hyperammonemia. In pregnancies involving two carrier parents, prenatal diagnosis is important for both reproductive decisions and advanced preparation for neonatal care. The current gold standard for prenatal diagnosis has been the citrulline incorporation assay in addition to DNA mutation analysis. Herein, we review our experience with prenatal diagnosis of citrullinemia type I over the span of 11 years in 41 at-risk pregnancies. During this time, we identified 15 affected fetuses using a combination of molecular and biochemical testing. Given the established limitations of both the citrulline incorporation assay as well DNA mutation analysis, we probed our data to assess the value of amniotic fluid amino acid levels in prenatal diagnosis. Previous publications have proposed using the amniotic fluid ratio of citrulline/(arginine+ornithine) in prenatal diagnosis; however, we noted that amniotic fluid arginine levels were normal in our cohort and hypothesized that the amniotic fluid citrulline/ornithine ratio may be superior. Indeed, our analyses revealed that the ratio of amniotic fluid citrulline/ornithine alone correctly distinguished affected from unaffected fetuses in all cases. During the establishment of a normal reference range we discovered significant elevations in amniotic fluid citrulline levels in at-risk pregnancies compared to the normal population even when the fetus was unaffected. This highlights the importance of using amniotic fluid from carrier mothers when setting up a normal reference range. Finally, we report our experience as one of the first centers to adopt Sanger sequencing for prospective prenatal diagnosis of citrullinemia. While this is

  13. Human prenatal diagnosis

    SciTech Connect

    Filkins, K.; Russo, R.J.

    1985-01-01

    The multiauthor text is written as a ''guide to rationalize and clarify certain aspects of diagnosis, general counseling and intervention'' for ''health professionals who provide care to pregnant women.'' The text is not aimed at the ultrasonographer but rather at the physicians who are clinically responsible for patient management. Chapters of relevance to radiologists include an overview of prenatal screening and counseling, diagnosis of neural tube defects, ultrasonographic (US) scanning of fetal disorders in the first and second trimesters of pregnancy, US scanning in the third trimester, multiple gestation and selective termination, fetal echo and Doppler studies, and fetal therapy. Also included are overviews of virtually all currently utilized prenatal diagnostic techniques including amniocentesis, fetal blood sampling, fetoscopy, recombinant DNA detection of hemoglobinopathies, chorionic villus sampling, embryoscopy, legal issues, and diagnosis of Mendelian disorders by DNA analysis.

  14. Prenatal findings of holoprosencephaly.

    PubMed

    Hayashi, Yuko; Suzumori, Nobuhiro; Sugiura, Tokio; Sugiura-Ogasawara, Mayumi

    2015-08-01

    Holoprosencephaly (HPE) is a rare brain abnormality characterized by an incomplete cleavage of the primitive prosencephalon of forebrain during early embryogenesis. To determine the clinical characteristics and outcome of fetuses with HPE, we retrospectively analyzed nine patients who were prenatally diagnosed as fetal HPE by ultrasounds. The mean diagnostic weeks were 20 weeks of gestation. Two cases died within one day after birth. The chromosomal examinations were performed in seven cases (trisomy 18: n = 2; trisomy 13: n = 2; 45,XX,der(18)t(18;21)(p10;p10)mat: n = 1; normal karyotype: n = 2). In our HPE cases, most cases had serious facial anomalies and poor prognosis. Our data suggested that the early prenatal diagnosis of HPE allowed time for parental counseling and delivery planning.

  15. Prenatal stress and epigenetics.

    PubMed

    Cao-Lei, L; de Rooij, S R; King, S; Matthews, S G; Metz, G A S; Roseboom, T J; Szyf, M

    2017-05-18

    In utero exposure to environmental stress in both animals and humans could result in long-term epigenome alterations which further lead to consequences for adaptation and development in the offspring. Epigenetics, especially DNA methylation, is considered one of the most widely studied and well-characterized mechanisms involved in the long-lasting effects of in utero stress exposure. In this review, we outlined evidence from animal and human prenatal research supporting the view that prenatal stress could lead to lasting, broad and functionally organized signatures in DNA methylation which, in turn, could mediate exposure-phenotype associations. We also emphasized the advantage of using stressor from quasi-randomly assigned experiments. Furthermore, we discuss challenges that still need to be addressed in this field in the future. Copyright © 2017 Elsevier Ltd. All rights reserved.

  16. Sonographic evaluation of peripheral nerves in subtypes of Guillain-Barré syndrome.

    PubMed

    Mori, Atsuko; Nodera, Hiroyuki; Takamatsu, Naoko; Maruyama-Saladini, Keiko; Osaki, Yusuke; Shimatani, Yoshimitsu; Kaji, Ryuji

    2016-05-15

    Sonography of peripheral nerves can depict alteration of nerve sizes that could reflect inflammation and edema in inflammatory and demyelinating neuropathies. Guillain-Barré syndrome (GBS). Information on sonographic comparison of an axonal subtype (acute motor [and sensory] axonal neuropathy [AMAN and AMSAN]) and a demyelinating subtype (acute inflammatory demyelinating polyneuropathy [AIDP]) has been sparse. Sonography of peripheral nerves and cervical nerve roots were prospectively recorded in patients with GBS who were within three weeks of disease onset. Five patients with AIDP and nine with AMAN (n=6)/AMSAN (n=3) were enrolled. The patients with AIDP showed evidence of greater degrees of demyelination (e.g., slower conduction velocities and increased distal latencies) than those with AMAN/AMSAN. The patients with AIDP tended to show enlarged nerves in the proximal segments and in the cervical roots, whereas the patients with AMAN/AMSAN had greater enlargement in the distal neve segment, especially in the median nerve (P = 0.03; Wrist-axilla cross-sectional ratio). In this small study, two subtypes of GBS showed different patterns of involvement that might reflect different pathomechanisms. Copyright © 2016 Elsevier B.V. All rights reserved.

  17. Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene

    PubMed Central

    van Maarle, M. C.; Robles de Medina, P.; Oostra, R. J.; van Rijn, R. R.; Pajkrt, E.; Bilardo, C. M.

    2016-01-01

    Caudal regression syndrome (CRS) is a rare congenital disorder characterized by developmental abnormalities of caudal spinal segments. To date, the etiology of CRS is unclear; sporadic cases are strongly associated with maternal diabetes, while familiar recurrence is infrequent. We describe in detail the prenatal clinical and sonographic findings of a recently described hereditary caudal regression syndrome, in four fetuses reported to be homozygous for a mutation in the T (brachyury) gene. The syndrome occurred in three consanguineous, but unrelated families, originating from the same geographical area. All affected fetuses had persistence of the notochord in association with abnormal vertebral ossification, sacral agenesis, and bilateral clubfoot. These findings suggest that, in case of prenatal diagnosis of sacral agenesis, an advanced ultrasound examination should assess the vertebral ossification and the rare persistence of the notochord, in order to rule the involvement of the T gene. PMID:28116192

  18. Prenatal testosterone and stuttering.

    PubMed

    Montag, Christian; Bleek, Benjamin; Breuer, Svenja; Prüss, Holger; Richardt, Kirsten; Cook, Susanne; Yaruss, J Scott; Reuter, Martin

    2015-01-01

    The prevalence of stuttering is much higher in males compared to females. The biological underpinnings of this skewed sex-ratio is poorly understood, but it has often been speculated that sex hormones could play an important role. The present study investigated a potential link between prenatal testosterone and stuttering. Here, an indirect indicator of prenatal testosterone levels, the Digit Ratio (2D:4D) of the hand, was used. As numerous studies have shown, hands with more "male" characteristics (putatively representing greater prenatal testosterone levels) are characterized by a longer ring finger compared to the index finger (represented as a lower 2D:4D ratio) in the general population. We searched for differences in the 2D:4D ratios between 38 persons who stutter and 36 persons who do not stutter. In a second step, we investigated potential links between the 2D:4D ratio and the multifaceted symptomatology of stuttering, as measured by the Overall Assessment of the Speaker's Experience of Stuttering (OASES), in a larger sample of 44 adults who stutter. In the first step, no significant differences in the 2D:4D were observed between individuals who stutter and individuals who do not stutter. In the second step, 2D:4D correlated negatively with higher scores of the OASES (representing higher negative experiences due to stuttering), and this effect was more pronounced for female persons who stutter. The findings indicate for the first time that prenatal testosterone may influence individual differences in psychosocial impact of this speech disorder. Copyright © 2014 Elsevier Ltd. All rights reserved.

  19. Extensive sonographic ulnar nerve enlargement above the medial epicondyle is a characteristic sign in Hansen’s neuropathy

    PubMed Central

    N. Krishnam, Venkataramana; Kumar, Hari Kishan; Neladimmanahally, Vivekananda; Nagaraju, Umashankar; Kumar, Himanshu M.; Telleman, Johan A.; Visser, Leo H.

    2017-01-01

    Objective Earlier studies have shown sonographic enlargement of the ulnar nerve in patients with Hansen’s neuropathy. The present study was performed to determine whether sonography or electrophysiological studies can detect the specific site of ulnar nerve pathology in leprosy. Methods Eighteen patients (thirty arms) with Hansen’s disease and an ulnar neuropathy of whom 66% had borderline tuberculoid (BT), 27% lepromatous leprosy (LL) and 7% mid-borderline (BB) leprosy were included in the study. Cross-sectional area (CSA) of ulnar nerve was measured every two centimeters from wrist to medial epicondyle and from there to axilla. All patients underwent standard motor and sensory nerve conduction studies of the ulnar nerve. Thirty age and sex matched controls underwent similar ulnar nerve CSA measurements and conduction studies. Results Ulnar nerve was clinically palpable in 19 of the 30 arms of patients. Motor and sensory nerve conduction studies of the ulnar nerve showed a reduced compound motor action potential and sensory nerve action potential amplitude in all patients. Motor Conduction Velocity (MCV) in patients were slower in comparison to controls, especially at the elbow and upper arm, but unable to exactly locate the site of the lesion. In comparison to controls the ulnar nerveCSA was larger in the whole arm in patients and quite specific the maximum enlargement was seen between nulnar sulcus and axilla, peaking at four centimeters above the sulcus. Conclusions A unique sonographic pattern of nerve enlargement is noted in patients with ulnar neuropathy due to Hansen’s disease, while this was not the case for the technique used until now, the electrodiagnostic testing. The enlargement starts at ulnar sulcus and is maximum four centimeters above the medial epicondyle and starts reducing further along the tract. This characteristic finding can help especially in diagnosing pure neuritic type of Hansen’s disease, in which skin lesions are absent, and

  20. Sonographic Renal Parenchymal Measurements for the Evaluation and Management of Ureteropelvic Junction Obstruction in Children.

    PubMed

    Kelley, Jeremy C; White, Jeffrey T; Goetz, Jessica T; Romero, Elena; Leslie, Jeffrey A; Prieto, Juan C

    2016-01-01

    To correlate sonographic renal parenchymal measurements among patients with ureteropelvic junction obstruction (UPJO) labeled society of fetal urology (SFU) hydronephrosis grades 1-4 and to examine whether sonographic renal parenchymal measurements could be used to differentiate conservative vs. surgical management. Retrospective chart review and sonographic renal parenchymal measurements (renal length, medullary pyramid thickness, and renal parenchymal thickness) were performed in patients with SFU grades 1-4 hydronephrosis secondary to UPJO managed between 2009 and 2014. Exclusion criteria included other concomitant genitourinary pathology or incomplete follow-up. Anterior-posterior renal pelvic diameter (APRPD) and radionuclide renography were also evaluated when available. One hundred four patients with UPJO underwent 244 renal and bladder ultrasound (1,464 sonographic renal parenchymal measurements in 488 kidneys). Medullary pyramid thickness and renal parenchymal thickness progressively decreased from SFU grades 1-4 (p < 0.05). A similar trend was appreciated when comparing SFU grades 1 and 2 vs. 3 and 4, as well as SFU grades 3 vs. 4 (p < 0.05). SFU grade 3 and 4 patients who underwent pyeloplasty had longer renal length in comparison to those who were managed conservatively (p < 0.02). This is the first study that evaluates these objective, quantifiable sonographic renal parenchymal measurements in children with unilateral UPJO. These sonographic renal parenchymal measurements correlate closely with worsening of hydronephrosis graded by the SFU and APRPD classification systems. Prospective studies are needed to elucidate the role of sonographic renal parenchymal measurements in the management of children with UPJO.

  1. Validation of a Novel 3-Dimensional Sonographic Method for Assessing Gastric Accommodation in Healthy Adults.

    PubMed

    Buisman, Wijnand J; van Herwaarden-Lindeboom, Maud Y A; Mauritz, Femke A; El Ouamari, Mourad; Hausken, Trygve; Olafsdottir, Edda J; van der Zee, David C; Gilja, Odd Helge

    2016-07-01

    A novel automated 3-dimensional (3D) sonographic method has been developed for measuring gastric volumes. This study aimed to validate and assess the reliability of this novel 3D sonographic method compared to the reference standard in 3D gastric sonography: freehand magneto-based 3D sonography. A prospective study with 8 balloons (in vitro) and 16 stomachs of healthy volunteers (in vivo) was performed. After a 500-mL liquid meal, 1 preprandial and 3 postprandial volume scans of the stomachs were performed by the novel 3D sonographic method and the current reference-standard 3D sonographic method. The in vitro study showed a mean volume difference between the novel method and the true balloon volume of -1.3 mL; limits of agreement (LoA) were small (-39.3 to12.3 mL), with an intraclass correlation coefficient (ICC) of 0.998. The in vivo study showed a mean gastric volume of 321 mL between the novel method and the freehand magneto-based method, with a mean volume difference of -4.4 mL; LoA were -40.1 to 31.2 mL, and the ICC was 0.991. The intraobserver and interobserver variability rates were low, at 0.8 mL (LoA, -24.0 to 25.6 mL), with an ICC of 0.995, and 0.5 mL (LoA, of -26.8 to 27.8 mL), with an ICC of 0.999, respectively. The novel 3D sonographic method with automated acquisition showed good agreement with the current reference-standard gastric 3D sonographic method, with low intraobserver and interobserver variability. This novel 3D sonographic method is a valid and reliable technique for determining gastric accommodation.

  2. The Clinical Significance of Early (<20 Weeks) Versus Late (20–24 Weeks) Detection of a Sonographic Short Cervix in Asymptomatic Women in the Mid-Trimester

    PubMed Central

    Vaisbuch, Edi; Romero, Roberto; Erez, Offer; Kusanovic, Juan Pedro; Mazaki-Tovi, Shali; Gotsch, Francesca; Romero, Vivian; Ward, Clara; Chaiworapongsa, Tinnakorn; Mittal, Pooja; Sorokin, Yoram; Hassan, Sonia S.

    2010-01-01

    Objective The aim of this study was to determine whether the risk of early spontaneous preterm delivery (sPTD) in asymptomatic women with a sonographic cervical length ≤15 mm in the mid-trimester changes as a function of gestational age at diagnos Methods This cohort study included 109 asymptomatic patients with a sonographic sonographic cervical length ≤15 mm diagnosed at 14–24 weeks of gestation. Women with a multifetal gestation, cerclage, and those with a cervical dilatation >2 cm were excluded. The study population was stratified by gestational age at diagnosis (<20 weeks vs. 20–24 weeks) and by cervical length (≤10 mm vs. 11–15 mm). The primary outcome variables were PTD <28 and <32 weeks’ gestation and the diagnosis-to-delivery interval. Results 1) The median gestational age at diagnosis of a short cervix before 20 weeks and at 20–24 weeks was 18.9 and 22.7 weeks, respectively; 2) women diagnosed before 20 weeks had a higher rate of sPTD at <28 weeks (76.9% vs. 30.9%; p<0.001) and at <32 weeks (80.8% vs. 48.1%; p=0.004), and a shorter median diagnosis-to-delivery interval (21 vs. 61.5 days, p=0.003) than those diagnosed at 20–24 weeks; 3) The rate of amniotic fluid “sludge” was higher among patients diagnosed at <20 weeks of gestation than those diagnosed between 20 and 24 weeks (92.3% vs. 48.2%;p<0.001). Conclusions Asymptomatic women with a sonographic cervical length ≤15 mm diagnosed before 20 weeks have a dramatic and significantly higher risk of early preterm delivery than women diagnosed at 20–24 weeks. These findings can be helpful to physicians in counseling these patients, and may suggest different mechanisms of disease leading to a sonographic short cervix before or after 20 weeks of gestation. PMID:20503224

  3. [Mucocele of the appendix. Incidental sonographic discovery and laparoscopic resection].

    PubMed

    Stang, A; Braumann, D; Teichmann, W

    2004-10-22

    A 76-year-old currently asymptomatic man was admitted for routine sonography of the abdomen. 15 years he had had intermittently symptomatic cholecystolithiasis. 25 years before a colon contrast showed a normal coecum but no filling of the appendix. Sonographic examination showed the known cholecystolithisasis but additionally revealed as an incidental finding a tubular-cystic structure with a thin, echogenic wall and a hypoechogenic lumen. The lesion was located in the right upper quadrant, not compressible and arising from the coecum. Computed tomography confirmed a mucocele of the appendix without ascites and no inflammatory changes, peritoneal thickening or nodules. Laparoscopic resection of the unruptured appendiceal mucocele together with cholestectomy was performed. On gross examination, the resected mucocele proved to be macroscopally an intact mass with a thin wall and full of white gelatinous material measuring 3 cm in diameter and 8 cm long. The histologic diagnosis was mucinous cystadenoma. The patient was discharged on the second postoperative day and recovered uneventfully. Because of the clear association of appendiceal cystadenoma with colorectal tumor a colonoscopy was performed which showed a normal colon. The differential diagnosis of a cystic mass in the right lower quadrant without previous appendectomy should include an appendiceal mucocele. If preoperatively there are no signs of malignancy, laparoscopic resection can be performed. In patients with histologic diagnosis of appendiceal cystadenoma: the colon should be examined to exclude synchronous colon tumors.

  4. Sonographic and electrophysiologic findings in patients with meralgia paresthetica.

    PubMed

    Suh, Dong Hun; Kim, Dong Hwee; Park, Jong Woong; Park, Byung Kyu

    2013-07-01

    This study was aimed to demonstrate the usefulness of ultrasonography in the diagnosis of meralgia paresthetica (MP). Clinical data, sensory nerve conduction study and sonographic findings of 23 patients with unilateral MP were analyzed retrospectively. Twelve healthy subjects were recruited for the optimal cut-off value for the cross-sectional area of LFCN to diagnose MP using receiver operating characteristic curves. The median value of the cross-sectional area of LFCN in healthy subjects was 3mm(2) and in the affected and unaffected sides in patients with MP, they were 11 and 6.5mm(2) around the anterior superior iliac spine level. The optimal cut-off value for the diagnosis of MP was 5mm(2). The location of LFCN on the affected side was superior to the inguinal ligament in 12 out of 23 cases (50%). Ultrasonography is useful in the diagnosis of MP as a supplemental diagnostic tool, which gives important information about the morphologic changes that occur in the LFCN and its course. To the best of our knowledge, this is the first report to suggest that describe the cutoff value of the cross-sectional area of LFCN for the diagnosis of MP using ultrasonography. Copyright © 2013 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

  5. Gastroschisis: Antenatal Sonographic Predictors of Adverse Neonatal Outcome

    PubMed Central

    Ferraro, Zachary Michael; Moretti, Felipe; Fung Kee Fung, Karen

    2014-01-01

    Objectives. The aim of this review was to identify clinically significant ultrasound predictors of adverse neonatal outcome in fetal gastroschisis. Methods. A quasi-systematic review was conducted in PubMed and Ovid using the key terms “gastroschisis,” “predictors,” “outcome,” and “ultrasound.” Results. A total of 18 papers were included. The most common sonographic predictors were intra-abdominal bowel dilatation (IABD), intrauterine growth restriction (IUGR), and bowel dilatation not otherwise specified (NOS). Three ultrasound markers were consistently found to be statistically insignificant with respect to predicting adverse outcome including abdominal circumference, stomach herniation and dilatation, and extra-abdominal bowel dilatation (EABD). Conclusions. Gastroschisis is associated with several comorbidities, yet there is much discrepancy in the literature regarding which specific ultrasound markers best predict adverse neonatal outcomes. Future research should include prospective trials with larger sample sizes and use well-defined and consistent definitions of the adverse outcomes investigated with consideration given to IABD. PMID:25587450

  6. Carpal tunnel syndrome severity staging using sonographic and clinical measures.

    PubMed

    Roll, Shawn C; Volz, Kevin R; Fahy, Christine M; Evans, Kevin D

    2015-06-01

    Ultrasonography may be valuable in staging carpal tunnel syndrome severity, especially by combining multiple measures. This study aimed to develop a preliminary severity staging model using multiple sonographic and clinical measures. Measures were obtained in 104 participants. Multiple categorization structures for each variable were correlated to diagnostic severity based on nerve conduction. Goodness-of-fit was evaluated for models using iterative combinations of highly correlated variables. Using the best-fit model, a preliminary scoring system was developed, and frequency of misclassification was calculated. The severity staging model with best fit (rho 0.90) included patient-reported symptoms, functional deficits, provocative testing, nerve cross-sectional area, and nerve longitudinal appearance. An 8-point scoring scale classified severity accurately for 79.8% of participants. This severity staging model is a novel approach to carpal tunnel syndrome evaluation. Including more sensitive measures of nerve vascularity, nerve excursion, or other emerging techniques may refine this preliminary model. © 2014 Wiley Periodicals, Inc.

  7. Carpal tunnel syndrome severity staging using sonographic and clinical measures

    PubMed Central

    Roll, Shawn C.; Volz, Kevin R.; Fahy, Christine M.; Evans, Kevin D.

    2014-01-01

    Introduction Ultrasonography may be valuable in staging carpal tunnel syndrome severity, especially by combining multiple measures. This study aimed to develop a preliminary severity staging model using multiple sonographic and clinical measures. Methods Measures were obtained in 104 participants. Multiple categorization structures for each variable were correlated to diagnostic severity based on nerve conduction. Goodness-of-fit was evaluated for models using iterative combinations of highly correlated variables. Using the best-fit model, a preliminary scoring system was developed, and frequency of misclassification was calculated. Results The severity staging model with best fit (Rho 0.90) included patient-reported symptoms, functional deficits, provocative testing, nerve cross-sectional area, and nerve longitudinal appearance. An 8-point scoring scale classified severity accurately for 79.8% of participants. Discussion This severity staging model is a novel approach to carpal tunnel syndrome evaluation. Including more sensitive measures of nerve vascularity, nerve excursion, or other emerging techniques may refine this preliminary model. PMID:25287477

  8. Proliferation of prenatal ultrasonography

    PubMed Central

    You, John J.; Alter, David A.; Stukel, Therese A.; McDonald, Sarah D.; Laupacis, Andreas; Liu, Ying; Ray, Joel G.

    2010-01-01

    Background The extent to which temporal increases in the use of prenatal ultrasonography reflect changes in maternal risk is unknown. In this population-based study, we examined the use of prenatal ultrasonography from 1996 to 2006 in Ontario. Methods With fiscal year 1996/97 as the baseline, we evaluated the relative risk (RR) and 95% confidence interval (CI) for the change in rates of ultrasonography for each subsequent year. The RR was adjusted for maternal age, income, rural residence, maternal comorbidities, receipt of genetics consultation or amniocentesis — all in the index pregnancy — and history of complications in a prior pregnancy. Results The study sample consisted of 1 399 389 singleton deliveries. The rate of prenatal ultrasonography increased from 2055 per 1000 pregnancies in 1996 to 3264 per 1000 in 2006 (adjusted RR 1.55, 95% CI 1.54–1.55). The rate increased among both women with low-risk pregnancies (adjusted RR 1.54, 95% CI 1.53–1.55) and those with high-risk pregnancies (adjusted RR 1.55, 95% CI 1.54–1.57). The proportion of pregnancies with at least four ultrasound examinations in the second or third trimesters rose from 6.4% in 1996 to 18.7% in 2006 (adjusted RR 2.68, 95% CI 2.61–2.74). Paradoxically, this increase was more pronounced among low-risk pregnancies (adjusted RR 2.92, 95% CI 2.83–3.01) than among high-risk pregnancies (adjusted RR 2.25, 95% CI 2.16–2.35). Interpretation Substantial increases in the use of prenatal ultrasonography over the past decade do not appear to reflect changes in maternal risk. Nearly one in five women now undergo four or more ultrasound examinations during the second and third trimesters. Efforts to promote more appropriate use of prenatal ultrasonography for singleton pregnancies appear warranted. PMID:20048009

  9. Isolated breast vasculitis manifested as breast edema with suggestive sonographic findings: a case report with imaging findings.

    PubMed

    Lee, Ji Young; Joo, Mee

    2017-04-01

    Early diagnosis of breast vasculitis (BV) is difficult because this condition is rare and occasionally mimics breast cancer clinically or radiologically. It may present as systemic disease or as an isolated lesion in the breast, without systemic evidence. When vasculitis appears in the breast, it also might manifest as a tumor-like lesion, and in previous cases, tissue acquisition was needed for confirmation of the diagnosis because of BV's resemblance to inflammatory breast cancer. We report a case of isolated BV that was suspected of being inflammatory breast cancer clinically, but manifested as bilateral breast edema on mammography. In this case, sonographic findings included not only nonspecific edema findings that might be seen in other cases, but also suggestive findings of hypoechoic circumferential arterial wall thickening with perivascular fat infiltrations that are similar to the halo sign in large arteries but have not been reported in the breast. These are helpful for presumptive diagnosis of BV using ultrasound.

  10. Prenatal stress, prematurity and asthma

    PubMed Central

    Medsker, Brock; Forno, Erick; Simhan, Hyagriv; Celedón, Juan C.

    2016-01-01

    Asthma is the most common chronic disease of childhood, affecting millions of children in the U.S. and worldwide. Prematurity is a risk factor for asthma, and certain ethnic or racial minorities such as Puerto Ricans and non-Hispanic Blacks are disproportionately affected by both prematurity and asthma. In this review, we examine current evidence to support maternal psychosocial stress as a putative link between prematurity and asthma, while also focusing on disruption of the hypothalamic-pituitary-adrenal (HPA) axis and immune responses as potential underlying mechanisms for stress-induced “premature asthma”. Prenatal stress may not only cause abnormalities in the HPA axis but also epigenetic changes in the fetal glucocorticoid receptor gene (NR3C1), leading to impaired glucocorticoid metabolism. Moreover, maternal stress can alter fetal cytokine balance, favoring Th2 (allergic) immune responses characteristic of atopic asthma: IL-6, which has been associated with premature labor, can promote Th2 responses by stimulating production of IL-4 and IL-13. Given a link among stress, prematurity, and asthma, future research should include birth cohorts aimed at confirming and better characterizing “premature asthma”. If confirmed, clinical trials of prenatal maternal stress reduction would be warranted to reduce the burden of these common co-morbidities. While awaiting the results of such studies, sound policies to prevent domestic and community violence (e.g. from firearms) are justified, not only by public safety but also by growing evidence of detrimental effects of violence-induced stress on psychiatric and somatic health. PMID:26676148

  11. Echocardiography service provision in New Zealand: The implications of capacity modelling for the cardiac sonographer workforce.

    PubMed

    Buckley, Belinda; Farnworth, Mark J; Whalley, Gillian

    2016-01-08

    Regional disparity in both utilisation and the cardiac sonographer workforce has previously been identified. We sought to model the capacity of the cardiac sonographer workforce at a national and District Health Board level to better understand these regional differences. In 2013, surveys were distributed to 18 hospitals who employ cardiac sonographers (return rate 100%). Questions related to cardiac sonographer demographics, echo utilisation and workflow. Actual clinical capacity was calculated from scan duration and annual scan volumes. New Zealand national actual capacity was compared to predicted capacity from three international models. Potential clinical capacity was calculated from the workforce size in fulltime equivalent (FTE) and clinical availability. In New Zealand, scan duration and population-based clinical capacity varies between centres. The New Zealand capacity is similar to the UK 30:70 model, and consistently less than the US model for all scan types. There are marked regional differences in potential versus actual capacity, with 10/16 DHBs demonstrating excess potential capacity. There is regional disparity in the capacity of the cardiac sonographer workforce, which appears to be strongly related to scan duration. Workforce capacity modelling should be used with need and demand modelling to plan adequate levels of service provision.

  12. Sonographic classification of testicular tumors by tissue harmonic imaging: experience of 58 cases.

    PubMed

    Kawamoto, Atsuo; Hatano, Tadashi; Saito, Kazuhiro; Inoue, Rie; Nagao, Toshitaka; Sanada, Shigeru

    2017-03-20

    To evaluate the relationship between our proposed sonographic classification of testicular tumors by tissue harmonic imaging and histological type. We retrospectively analyzed 58 testicular tumors and tumor-like lesions [seminomatous germ cell tumor (SGCT): 28; non-seminomatous germ cell tumor (NSGCT): 16; lymphoid and hematopoietic tumor (LHT): 7; Leydig cell tumor: 1; epidermal cyst: 2; and tumor of paratesticular structure (TPS): 4]. We divided a sonographic image into six types for morphological criteria and three types for color Doppler criteria. We examined the relationship between the sonographic classification and histological type. For morphological criteria, there were 21 cases of Type I (36%), 15 Type II (26%), 9 Type III (15%), five Type IV (9%), five Type V (9%), and three Type VI (5%). For color Doppler criteria, there were 47 cases classified as hypervascular (81%), eight as hypovascular (14%), and three as avascular (5%). Most of the SGCTs were divided into types I and II; the NSGCTs into types III, IV, and V; the LHTs into only type II; and the TPSs into type VI. We established a sonographic classification of testicular tumors with various histological types. This sonographic classification is potentially useful for estimating the histological type of testicular tumors.

  13. Sonographically guided distal radioulnar joint injection: technique and validation in a cadaveric model.

    PubMed

    Smith, Jay; Rizzo, Marco; Sayeed, Yusef A; Finnoff, Jonathan T

    2011-11-01

    Distal radioulnar joint (DRUJ) disorders are uncommon but important causes of ulnar-sided wrist pain and disability. Fluoroscopically guided injections may be performed to diagnose or treat DRUJ-related pain or as part of a diagnostic arthrogram. Sonographic guidance may provide a favorable alternative to fluoroscopic guidance for distal DRUJ injections. This report describes and validates a sonographically guided technique for DRUJ injections in an unembalmed cadaveric model. An experienced clinician used sonographic guidance to inject diluted colored latex into the DRUJs of 10 unembalmed cadaveric specimens. Subsequent dissection by a fellowship-trained hand surgeon confirmed accurate injections in all 10 specimens. Two cases of ulnocarpal flow, indicative of triangular fibrocartilage injury, were noted during injection and subsequently confirmed during dissection. Clinicians should consider using sonographic guidance to perform DRUJ injections when clinically indicated. Further research should explore the efficacy of sonographically guided DRUJ injections to treat patients with painful DRUJ syndromes or to evaluate the triangular fibrocartilage complex in patients with ulnar wrist pain syndromes.

  14. Primary thyroid lymphoma has different sonographic and color Doppler features compared to nodular goiter.

    PubMed

    Wang, Zhongqing; Fu, Bin; Xiao, Ying; Liao, Jintang; Xie, Ping

    2015-02-01

    The purpose of this study was to determine the specific sonographic features of primary thyroid lymphoma and its color Doppler pattern compared to nodular goiter. The sonographic findings for 13 surgically proven primary thyroid lymphomas were analyzed and compared to those for 27 nodular goiters. In accordance with the suggested pathologic patterns, the sonographic patterns of primary thyroid lymphoma could be classified into diffuse and nodular or segmental types based on the distribution of hypoechoic and echogenic structures within the lesions. Some common sonographic characteristics suggesting thyroid malignancy could not facilitate differentiation of primary thyroid lymphoma from nodular goiter. However, a central blood flow pattern would favor the diagnosis of primary thyroid lymphoma, whereas a peripheral pattern would suggest the diagnosis of nodular goiter. Primary thyroid lymphoma has characteristic sonographic and Doppler flow features. Along with several other parameters, a central blood flow pattern would highly suggest the diagnosis of primary thyroid lymphoma rather than nodular goiter. © 2015 by the American Institute of Ultrasound in Medicine.

  15. Prenatal Diagnosis and Genetic Counseling

    PubMed Central

    Dumars, Kenneth W.; Dalrymple, Gisela T.; Murray, Allen K.

    1976-01-01

    Since the early 1960's knowledge regarding human genetics has increased at an exponential rate. Because genetics was not commonly taught in medical schools before the late 1960's, this review article is intended to acquaint physicians or refresh their knowledge regarding chromosomal, mendelian and multifactorial inheritance and the indications for prenatal diagnosis. Establishing an accurate diagnosis and mode of inheritance is essential in identifying and selecting those families at risk for genetic disease in their offspring. Medical genetics is evolving as a specialty in order to provide consultation and, if needed, management of those families who would benefit by genetic services. Families who would benefit from genetic counseling include, for example, those in whom any of the following conditions is present: known chromosomal disorders, known disorders due to mendelian inheritance, mental retardation of unknown origin, failure of sexual maturation or failure of sexual development, congenital malformations, floppy infant syndrome or leukemia. A list of more than 70 disorders now detectable in a fetus by means of amniocentesis provides a beginning in the prevention of genetic disease. Knowledge regarding these diseases allows a physician to provide families with accurate risk figures so that they may make informed decisions about having children. Also, a compassionate and nonjudgmental approach to counseling is essential. Decisions, in the final analysis, must be made by the family but aided and supported by the physician. ImagesFigure 4.Figure 5. PMID:1274337

  16. Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders.

    PubMed

    Verma, Jyotsna; Thomas, Divya C; Sharma, Sandeepika; Jhingan, Geetu; Saxena, Renu; Kohli, Sudha; Puri, Ratna D; Bijarnia, Sunita; Verma, Ishwar C

    2015-11-01

    To offer accurate prenatal diagnosis of lysosomal storage disorders in early pregnancy. Prenatal enzymatic diagnoses of Gaucher, Fabry, Pompe, Niemann Pick A/B, Tay Sach, Sandoff, GM1, mucoplysaccharidoses, Wolman, Krabbe, Metachromatic leukodystrophy and Batten diseases were made in uncultured chorionic villi samples by fluorometric/spectrophotometric methods. Of 331 prenatal enzymatic diagnosis, 207 fetuses (67%) were normal and 124 (37%) were affected. The interpretation of affected, normal and carrier fetuses was done using their respective reference ranges as well as % enzyme activity of normal mean. The prenatal molecular confirmation was feasible in 43 biochemically diagnosed fetuses. Of the 207 normal reported fetuses, post natal enzymatic confirmation was done in 23 babies, clinical status of another 165 babies was assessed as unaffected via questionnaire on telephone and 19 were lost to follow-up. In affected pregnancies, 123 opted for termination of which 44 were confirmed enzymatically after abortion. A single false positive was determined to be a carrier by prenatal mutation analysis and carried to term. We recommend uncultured chorionic villi for reliable prenatal enzymatic diagnosis of various lysosomal storage disorders on account of the low rate of false positive (0.5%) and false negative (2.2%) results. © 2015 John Wiley & Sons, Ltd.

  17. The Place of Prenatal Clases

    PubMed Central

    Enkin, M. W.

    1978-01-01

    The past 20 years has shown an exponential rise in both obstetrical intervention and family centred maternity care. Prenatal classes, although not as yet fully integrated into prenatal care, fill a vital role in teaching couples the information, skills, and attitudes required to participate actively in their reproductive care, and to recognize both their rights and their responsibilities. PMID:21301557

  18. Selective abortion after prenatal diagnosis.

    PubMed

    Schubert-Lehnhardt, V

    1996-01-01

    This paper deals with the main arguments in Europe against selective abortion after prenatal diagnoses and against using prenatal diagnoses as a whole from an ethical point of view. The different experiences from the Eastern and the Western parts of Germany are used as examples. The paper suggests that using ethics could promote multicultural experiences and different strategies of decision-making.

  19. Prenatal diagnosis and genetic analysis of double trisomy 48,XXX,+18.

    PubMed

    Chen, C P; Chern, S R; Yeh, L F; Chen, W L; Chen, L F; Wang, W

    2000-09-01

    Prenatal diagnosis of simultaneous occurrence of double trisomy involving chromosomes 18 and X is extremely rare. We report on the prenatal diagnosis, genetic analysis and clinical manifestations of a fetus with both trisomy 18 and trisomy X. A 26-year-old, para 1 woman was referred for genetic counselling at 36 weeks' gestation with the sonographic findings of intrauterine growth retardation (IUGR), polyhydramnios, ventricular septal defect, and an enlarged cisterna magna. Both cordocentesis and amniocentesis revealed a consistent karyotype of 48,XXX,+18. Quantitative fluorescent polymerase chain reaction using polymorphic small tandem repeat markers specific for chromosomes 18 and X rapidly determined that both aneuploidies arose as a result of non-disjunction in maternal meiosis II. Our case shows that two non-disjunction events can occur not only in the same parent, but also in the same cell division. Our case also shows that double trisomy, 48,XXX,+18, can demonstrate an enlarged cisterna magna, IUGR and polyhydramnios in prenatal ultrasound. Copyright 2000 John Wiley & Sons, Ltd.

  20. Prenatally engineered autologous amniotic fluid stem cell-based heart valves in the fetal circulation.

    PubMed

    Weber, Benedikt; Emmert, Maximilian Y; Behr, Luc; Schoenauer, Roman; Brokopp, Chad; Drögemüller, Cord; Modregger, Peter; Stampanoni, Marco; Vats, Divya; Rudin, Markus; Bürzle, Wilfried; Farine, Marc; Mazza, Edoardo; Frauenfelder, Thomas; Zannettino, Andrew C; Zünd, Gregor; Kretschmar, Oliver; Falk, Volkmar; Hoerstrup, Simon P

    2012-06-01

    Prenatal heart valve interventions aiming at the early and systematic correction of congenital cardiac malformations represent a promising treatment option in maternal-fetal care. However, definite fetal valve replacements require growing implants adaptive to fetal and postnatal development. The presented study investigates the fetal implantation of prenatally engineered living autologous cell-based heart valves. Autologous amniotic fluid cells (AFCs) were isolated from pregnant sheep between 122 and 128 days of gestation via transuterine sonographic sampling. Stented trileaflet heart valves were fabricated from biodegradable PGA-P4HB composite matrices (n = 9) and seeded with AFCs in vitro. Within the same intervention, tissue engineered heart valves (TEHVs) and unseeded controls were implanted orthotopically into the pulmonary position using an in-utero closed-heart hybrid approach. The transapical valve deployments were successful in all animals with acute survival of 77.8% of fetuses. TEHV in-vivo functionality was assessed using echocardiography as well as angiography. Fetuses were harvested up to 1 week after implantation representing a birth-relevant gestational age. TEHVs showed in vivo functionality with intact valvular integrity and absence of thrombus formation. The presented approach may serve as an experimental basis for future human prenatal cardiac interventions using fully biodegradable autologous cell-based living materials. Copyright © 2012 Elsevier Ltd. All rights reserved.

  1. Sonographically Guided Semimembranosus Bursa Injection: Technique and Validation.

    PubMed

    Onishi, Kentaro; Sellon, Jacob L; Smith, Jay

    2016-01-01

    To describe and validate a sonographically guided (SG) semimembranosus (SM) bursa injection technique in an unembalmed cadaveric model. Prospective, cadaveric laboratory investigation. Academic institution procedural skills laboratory. Ten unembalmed cadaveric thigh-knee-ankle-foot specimens from 4 male and 6 female donors ages 55-92 years (mean 76.2 years) with body mass indices of 15.4-31.8 kg/m(2) (mean 21.9 kg/m(2)). A single, experienced operator completed SG SM bursa injections in 10 unembalmed cadaveric knees using 3 mL of diluted colored latex. At a minimum of 2 days after the injection, co-investigators dissected the specimens to assess the distribution of latex with respect to the SM bursa. Injections were graded for accuracy as follows: accurate (all latex contained within the SM bursa), accurate with overflow (latex within the SM bursa and extending into regions other than the needle track), or inaccurate (no latex within the SM bursa). All 10 injections (100%) accurately placed latex within the SM bursa and resulted in proximal spread to at least the level of the knee joint. Eight of 10 injections (80%) demonstrated minimal (<1 mL) extrabursal flow without extension into the intra-articular space. No neurovascular injury occurred in any specimen. SG SM injections are feasible and accurate and may be considered for diagnostic and therapeutic injections in patients with suspected distal SM disorders. Injection volumes less than 3 mL should be considered to reduce extrabursal spread as clinically indicated. Copyright © 2016 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.

  2. Sonographic-pathologic correlation of complex cystic breast lesions

    PubMed Central

    Pongrattanaman, Saravech; Prueksadee, Jenjeera

    2013-01-01

    Objective To understand the pathologic basis for sonographic features of complex cystic lesions. Methods From 2 646 female patients underwent breast sonography at King Chulalongkorn Memorial Hospital from January 2005 through December 2010, 103 cystic lesions were included. Pathologic confirmation was performed by fine-needle aspiration (n=42), core needle biopsy (n=6), excision (n=54) and mastectomy (n=1). Complex cystic breast masses were classified into 3 types as followings; thick outer wall and/or thick internal septa (type I); thick septation and thick wall were defined as equal or more than 0.5 cm, masses containing mixed cystic and solid components (at least 50% of cystic component) (type II), predominantly solid with eccentric cystic foci (at least 50% of solid component) (type III). Results In 103 complex cystic masses, there are 27 lesions (26%) classified as type I cystic breast masses, 37 lesions (36%) as type II cystic breast masses and 39 lesions (38%) type III cystic breast masses, 26 lesions (25.2%) are proved to be malignant. All of type I cystic breast masses in our study are benign, and 14 (38%) of type II cystic breast masses and 12 lesions (31%) of type III cystic breast lesions are proved to be malignant. Conclusions Type II and III lesions should suggest possibility of malignancy and biopsy should be performed in all lesions. All type I lesion in this study are benign. None of other parameters we included in this study (size or margin) can effectively differentiate between benign or malignant cystic breast lesions. Also, grading of the malignant lesions by using type of cystic breast mass cannot be applied.

  3. Distal pectoralis major tears: sonographic characterization and potential diagnostic pitfalls.

    PubMed

    Lee, Sun Joo; Jacobson, Jon A; Kim, Sung-Moon; Fessell, David; Jiang, Yebin; Girish, Gandikota; Magerkurth, Olaf

    2013-12-01

    Distinction between musculotendinous tears of the pectoralis major and distal tendon avulsions is important, as the latter typically requires surgical repair. The objective of this study was to characterize the sonographic appearances of surgically proven distal tendon avulsion tears of the pectoralis major. A retrospective search of the radiology database (2001-2011) revealed 22 cases of pectoralis major tears on sonography, of which 9 had surgical correlation. Sonograms were retrospectively characterized by 3 fellowship-trained musculoskeletal radiologists in consensus with respect to the location and size of the fluid collection and the presence of tendon or tendonlike tissue superficial to the biceps brachii tendon. At surgery, complete distal tendon avulsions or tears of the sternal head of the pectoralis were present in all 9 cases: isolated in 6 and combined with clavicular head tears in 3. The location of the fluid collection was at the musculotendinous junction in 89% (8 of 9) and medial to the biceps brachii tendon in 11% (1 of 9), with a mean largest dimension of 3.8 cm (range, 0.7-6.2 cm). In no case was fluid seen at the humeral attachment of the pectoralis. In 67% (6 of 9), linear thickened hypoechoic tissue was seen superficial to the biceps brachii tendon, which simulated an abnormal but intact tendon, whereas in 33% (3 of 9), a normal distal pectoralis tendon was seen. Surgically proven distal pectoralis major tendon avulsions most commonly showed fluid collections at the musculotendinous junction and not at the humeral shaft, with either a normal tendon or hypoechoic tendonlike tissue over the biceps brachii long-head tendon. These findings may potentially cause misdiagnosis of distal tendon avulsions or tears as musculotendinous injuries.

  4. Functional three-dimensional sonographic study of the postpartum uterus.

    PubMed

    Wataganara, Tuangsit; Phithakwatchara, Nisarat; Komoltri, Chulaluk; Tantisirin, Pornpen; Pooliam, Julaporn; Titapant, Vitaya

    2015-01-01

    To demonstrate sequential changes of the postpartum uterus using two- and three-dimensional (2D and 3D) ultrasounds and Doppler studies. Eighty-one women who delivered a singleton at term were recruited for this prospective longitudinal study. Manual and ultrasound examinations of the uterus were performed for seven consecutive weeks. Sequential changes in size of the uterus, endometrial thickness and appearances and Doppler indices of the uterine and arcuate arteries were analyzed. Complete follow ups were achieved in 71 women who had an uncomplicated postpartum course. 2D and 3D ultrasound estimations of uterine volume are highly correlated with each other (r > 0.7), but not manual estimations (r < 0.3). Data generated from 497 3D observations demonstrated rapid involution of the uterus in the first two weeks after delivery. Breastfeeding and parity did not affect uterine involution (r < 0.2). Resistance index (RI) of the uterine artery started to elevate at four weeks after delivery (r > 0.7). RI of the arcuate artery was not significantly changed during the study period (r < 0.2). Uterine involution was independent from progressive thinning of the endometrium and elevation of uterine artery RI. (r < 0.1 and 0.2, respectively). Longitudinal sonographic study showed independent physiologic reversals of uterine volume, endometrium and vascular supply in the first seven weeks following vaginal delivery. Standardization of measurement techniques is essential to apply this information for an early detection of postpartum uterine complications.

  5. Successful implementation of a performance-related audit tool for sonographers

    PubMed Central

    Byass, OR

    2015-01-01

    A robust, sustainable audit programme for diagnostic ultrasound is hard to implement and establish. It requires time and resources to develop and to be relevant to clinical practice. There is a need for all ultrasound practitioners to undertake continuing professional development that underpins their roles and responsibilities within the workplace. A project group was established to evaluate how sonographers undertake Continuing Professional Development, with a view to understanding if implementing a performance-related audit process could support Continuing Professional Development. The group reviewed their clinical practice with an aim of developing a clinical governance and audit programme that could support both the needs of the service and sonographers alike. Our project has demonstrated that the implementation of this audit and case review process has positively contributed to our service and provided a more transparent and tangible account of sonographer performance. PMID:27433243

  6. [Prenatal exposure to androgens as a factor of fetal programming].

    PubMed

    Recabarren, Sergio E; Sir-Petermann, Teresa; Maliqueo, Manuel; Lobos, Alejandro; Rojas-García, Pedro

    2006-01-01

    Both epidemiological and clinical evidence suggest a relationship between the prenatal environment and the risk of developing diseases during adulthood. The first observations about this relationship showed that prenatal growth retardation or stress conditions during fetal life were associated to cardiovascular, metabolic and other diseases in later life. However, not only those conditions may have lasting effects after birth. Growing evidence suggests that prenatal exposure to steroids (either of fetal or maternal origin) could be another source of prenatal programming with detrimental consequences during adulthood. We have recently demonstrated that pregnant women with polycystic ovary syndrome exhibit elevated androgen levels compared to normal pregnant women, which could provide an androgen excess for both female or male fetuses. We have further tested this hypothesis in an animal model of prenatal androgenization, finding that females born from androgenized mothers have a low birth weight and high insulin resistance, that starts at an early age. On the other hand, males have low testosterone and LH secretion in response to a GnRH analogue test compared to control males and alterations in seminal parameters. We therefore propose that our efforts should be directed to modify the hyperandrogenic intrauterine environment to reduce the potential development of reproductive and metabolic diseases during adulthood.

  7. Sonographic Findings in Subcoracoid Impingement Syndrome: A Case Report and Literature Review.

    PubMed

    Lappin, Maura; Gallo, Andrew; Krzyzek, Monika; Evans, Korboi; Chen, Yin-Ting

    2017-02-01

    Subcoracoid impingement syndrome is a rare and underrecognized cause of anterior shoulder pain. Currently, subcoracoid impingement syndrome is understood to involve impingement of anatomic structures such as the subcoracoid bursa and subscapularis tendon within the coracohumeral space, and there are no reports of sonographic findings in subcoracoid impingement syndrome other than the impingement of thickened subscapularis bursa. Here we report a case of subcoracoid impingement syndrome, including a novel sonographic finding, arthroscopic findings, and a proposed pathophysiology. V. Copyright © 2017 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.

  8. Sonographic appearance of pyomyositis of the sternocleidomastoid muscle: A case report.

    PubMed

    Sakaida, Hiroshi; Matsuda, Yasunori; Takeuchi, Kazuhiko

    2016-11-22

    Pyomyositis in the neck has rarely been described. We present the sonographic findings in a case of pyomyositis of the sternocleidomastoid muscle. A 62-year-old man with poorly controlled diabetes presented with an induration of the neck and fever. On gray-scale sonography, a part of the sternocleidomastoid muscle appeared swollen and contained irregularly shaped hypoechoic areas. Power Doppler imaging showed increased vascularity in the muscle. Sonographic-guided aspiration confirmed abscesses in the sternocleidomastoid muscle. Surgical drainage was successfully performed along with antibiotic treatment. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound, 2016.

  9. Sonographic Examination of The Fetus Vis-à-Vis Shoulder Dystocia: A Vexing Promise.

    PubMed

    Doty, Morgen S; Al-Hafez, Leen; Chauhan, Suneet P

    2016-12-01

    Since antepartum and intrapartum risk factors are poor at identifying women whose labor is complicated by shoulder dystocia, sonographic examination of the fetus holds promise. Though there are several measurements of biometric parameters to identify the parturient who will have shoulder dystocia, none are currently clinically useful. Three national guidelines confirm that sonographic measurements do not serve as appropriate diagnostic tests to identify women who will have shoulder dystocia with or without concurrent injury. In summary, biometric measurements of the fetus should not be used to alter clinical management with the aim of averting shoulder dystocia.

  10. Acoustic structure quantification (ASQ): a new tool in sonographic examination of liver lesions in hepatic alveolar echinococcosis.

    PubMed

    Kaltenbach, Tanja Eva-Maria; Gruener, Beate; Akinli, Atilla Serif; Kratzer, Wolfgang; Oeztuerk, Suemeyra; Mason, Richard Andrew; Haenle, Mark Martin; Graeter, Tilmann

    2014-10-01

    Qualitative and quantitative acoustic structure quantification (ASQ) is a new, noninvasive sonographic imaging method based on B-mode. This prospective clinical pilot study aims to answer the question whether delineation and measurement of liver lesions in hepatic alveolar echinococcosis (HAE) can be improved by ASQ. Furthermore, this is the first pilot study to explore how ASQ parameters in HAE lesions develop. A total of 24 patients (male = 13/female = 11, mean age = 52 years (16-85), mean disease duration = 68 months (1-334)) with HAE were examined with ASQ using a Toshiba Aplio 500 unit. ASQ parameters were measured in HAE liver lesions and in adjacent non-tumor parenchyma. Quantitative analysis was performed offline using ASQ quantification software. Subjectively parasitic tumors in HAE appear more prominent in color-coded ASQ imaging, but the size of lesions measured in ASQ mode does not differ from size measurements in B-mode. Median focal disturbance ratio (FD ratio) in lesions was 3 (0.1-3), compared with 0.5 (0.1-1.8) in surrounding liver parenchyma (p < 0.0001). Statistical comparison of other ASQ parameters (mode, average, standard deviation) shows results that are similarly significant with p values between p < 0.0001 and p < 0.0018. ASQ is a promising sonographic method for examination and quantification of structural changes of liver parenchyma in HAE lesions.

  11. Prenatal diagnosis of hemimegalencephaly.

    PubMed

    Lang, Shih-Shan; Goldberg, Ethan; Zarnow, Deborah; Johnson, Mark P; Storm, Phillip B; Heuer, Gregory G

    2014-01-01

    In recent literature, there have been case reports of prenatal diagnosis of hemimegalencephaly, an extremely rare entity characterized by enlargement of all or portions of 1 cerebral hemisphere and intractable seizures. A unique case is presented of hemimegalencephaly of a fetus diagnosed in utero. A 27-year-old woman presented at 32 weeks' gestation for fetal magnetic resonance imaging after an abnormal fetal ultrasound. Fetal magnetic resonance imaging showed hemimegalencephaly of the left cerebral hemisphere with abnormal gyration. The patient was born via cesarean section at 39 weeks' gestation. He had continuous infantile spasms and partial-onset seizures starting on day 1 of life, and electroencephalography showed burst suppression. The patient's seizures were initially managed with antiepileptics, prednisolone, and a ketogenic diet; however, he was hospitalized multiple times because of status epilepticus. At 6 months of age, he underwent a successful anatomic left hemispherectomy. In utero diagnosis of complex developmental brain anomalies allows a multidisciplinary approach to provide optimal prenatal patient treatment and parental counseling. Copyright © 2014 Elsevier Inc. All rights reserved.

  12. Prenatal Cell-Free DNA Screening

    MedlinePlus

    Prenatal cell-free DNA screening Overview By Mayo Clinic Staff Prenatal cell-free DNA (cfDNA) screening, also known as noninvasive prenatal screening, is ... in a developing baby. During prenatal cell-free DNA screening, DNA from the mother and fetus is ...

  13. Prenatal vitamins: what is in the bottle?

    PubMed

    Duerbeck, Norman B; Dowling, David D; Duerbeck, Jillinda M

    2014-12-01

    Nearly all obstetricians routinely prescribe prenatal vitamins to their pregnant patients at the time of the first prenatal visit. Many times, patients' understanding of the health benefits of prenatal vitamins differs substantially from that of the prescribing physician. The following is a review of the most common ingredients found in prenatal vitamins and their purported health benefits.

  14. Prenatal diagnosis of inverted duplication deletion 8p syndrome mimicking trisomy 18.

    PubMed

    Akkurt, Mehmet Ozgur; Higgs, Amanda; Turan, Ozerk T; Turan, Ozhan M; Turan, Sifa

    2017-03-01

    Inverted duplication deletion of 8p (invdupdel[8p]) is a well-described and uncommon chromosomal rearrangement. The majority of the reported cases have revealed no life-threatening malformations. Although the invdupdel[8p] syndrome in children with central nervous system abnormalities has been reported before, we present the first prenatal microarray diagnosis of invdupdel[8p] syndrome mimicking trisomy 18 due to similar sonographic features. Contrary to reported cases with invdupdel[8p] syndrome, the present case had severe polyvalvular dysplasia and the infant deceased at day 12 of life. In this case, we also emphasize the diagnostic power of microarray analysis in detecting the underlying genetic causes for fetuses with multiple congenital anomalies. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  15. Prenatal diagnosis of truncus arteriosus using multiplanar display in 4D ultrasonography

    PubMed Central

    Gotsch, Francesca; Romero, Roberto; Espinoza, Jimmy; Kusanovic, Juan Pedro; Erez, Offer; Hassan, Sonia; Yeo, Lami

    2012-01-01

    Prenatal diagnosis of truncus arteriosus with two-dimensional (2D) sonography requires expertise in fetal echocardiography. Indeed, truncus arteriosus shares with tetralogy of Fallot and pulmonary atresia with a ventricular septal defect (VSD) the sonographic finding of a single arterial trunk overriding a VSD. The diagnosis of truncus arteriosus can be confirmed when either the main pulmonary artery or its branches are visualized arising from the truncus itself. This requires sequential examination of multiple scanning planes and a process of mental reconstruction of their spatial relationships. The advantage of multiplanar imaging in three-dimensional and four-dimensional ultrasonography is that it allows for the simultaneous visualization of three orthogonal anatomic planes, which can be very important in diagnosing cardiac abnormalities. We report, first, a case of truncus arteriosus diagnosed in utero where the multiplanar display modality provided important insight into the differential diagnosis of this conotruncal anomaly, and then, review the diagnosis of truncus arteriosus on ultrasound. PMID:19900032

  16. Prenatal diagnosis of caudal dysplasia sequence associated with undiagnosed type I diabetes

    PubMed Central

    Palacios-Marqués, Ana; Oliver, Cecilia; Martín-Bayón, Tina; Martinez-Escoriza, Juan Carlos

    2013-01-01

    Caudal regression or caudal dysplasia sequence (CDS) is a rare congenital malformation, which includes a wide spectrum of musculoskeletal abnormalities involving the lumbosacral spine, pelvis and lower limbs. It can be associated to visceral defects in various degrees. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. Women with diabetes who are dependent on insulin are 200–400 times more likely to have a child with caudal regression, making CDS the most characteristic fetal abnormality of diabetic embryopathy. Prenatal diagnosis is possible by ultrasonographic examination. The sonographic findings include abrupt interruption of the lumbar spine and ‘Buddha or frog position’ of the lower limbs. MRI has demonstrated the level of the vertebral anomalies as well as the associated abnormalities and this is crucial because the prognosis of this condition depends on the severity of the lesion and the presence of associated disorders. PMID:23737573

  17. [Prenatal diagnosis of X-linked adrenoleukodystrophy].

    PubMed

    Bao, Xin-hua; Ping, Li-li; Wang, Ai-hua; Pan, Hong; Wu, Ye; Xiong, Hui; Zhang, Yue-hua; Shi, Chun-yan; Qin, Jiong; Wu, Xiru

    2007-02-01

    To make prenatal dignosis of X-linked adrenoleukodystrophy (ALD) for the prevention of the disease. Eighteen amniocenteses were performed on 17 suspected carriers of X-ALD during 18-30 gestation weeks. The very long chain fatty acids (VLCFAs) levels of cultured amniocytes were tested by gas chromatography-mass spectrometry (GC/MS). The plasma VLCFAs levels were measured in 8 of the 18 prenatal diagnosed children when they were born or after abortion. ABCD1 gene mutation analysis was carried out in 8 cases by PCR and sequencing. ALDP of amniocytes was tested by Western blotting in 2 cases from a family, one female, another male, and the VLCFAs of cultured amniocytes were increased in both of them. Among the 18 fetuses, 10 were males and 8 were females. The VLCFAs levels of the cultured amniocytes were increased in 3 males and 4 females. The postnatal plasma VLCFAs were normal in 5 cases with normal VLCFAs levels of amniocytes, and increased in 3 cases with high VLCFAs levels of amniocytes. ABCD1 gene mutations were found in 4 cases with high VLCFAs levels of amniocytes, no mutation was found in other 4 cases with normal VLCFAs levels of amniocytes. ALDP of amniocytes could be detected in the female with high VLCFAs levels of amniocytes, and it could not be detected in the male with high VLCFAs levels of amniocytes. Three male fetuses with high VLCFAs levels of amniocytes were aborted. The others who were born were normal clinically so far. The prenatal diagnosis is very important for the prevention of ALD. Amniocyte VLCFAs level analysis combined with ABCD1 gene mutation analysis and ALDP test could make a proper prenatal diagnosis.

  18. [Prenatal stem cell transplantation: from bench to bedside].

    PubMed

    Surbek, D V; Holzgreve, W

    2002-11-01

    Prenatal stem cell transplantation is a novel, promising therapeutic option for genetic disorders, which is now at the edge of moving from preclinical research into clinical application. The first clinical experience shows that inborn diseases, which lead to a severe immunodeficiency, can be treated successfully inutero. No therapeutic success has been achieved in genetic disorders which do not severely affect the immune system. Therefore, new strategies to improve the success are being developed, including e.g., graft modification, prenatal conditioning of the fetus, postnatal re-transplantation after prenatal induction of immune tolerance, and fetal gene therapy using autologous fetal stem cells. The use of non-hematopoietic (e.g. mesenchymal) or pluripotent stem cells will most probably lead to an expansion of the spectrum of indications in genetic diseases for this novel treatment. At the same time, however, ethical implications, in particular regarding fetal gene therapy and the use of pluripotent stem cells must be evaluated.

  19. Prenatal screening for cystic fibrosis: past, present and future.

    PubMed

    Richards, Carolyn S; Grody, Wayne W

    2004-01-01

    Prenatal screening for cystic fibrosis is reviewed. The disease, gene involved, molecular basis of disease, genotype/phenotype correlations and pilot trials are discussed, as well as historical perspectives, background and American College of Medical Genetics/American College of Obstetricians and Gynecologists recommendations. A number of complex challenges to the implementation of cystic fibrosis screening exist, including mutation testing of the cystic fibrosis transmembrane conductance regulator gene (CFTR), as well as laboratory and clinical issues. Current technologies for CFTR testing include reverse dot blots, amplification refractory mutation detection systems, oligonucleotide ligation assays, the Invader assay and NanoChip system. Emerging technologies are also considered, as well as quality assurance measures including analytical and clinical validation, reporting, residual risk calculations and prenatal diagnosis. An even greater challenge is clinical implementation, which focuses upon education and communication, choosing models, reporting, counseling and prenatal diagnosis. Copyright Future Drugs Ltd.

  20. Characterization of Mediators of Cardiac And Renal Development in Response to Increased Prenatal Testosterone

    DTIC Science & Technology

    2008-08-01

    understand the effects of excess prenatal androgen on fetal development and subsequent adult disease states. Ryan W. Maresh Department of...pathological condition, a common question arises: Is the cause of the disease genetic, due to the environment we have lived in, or simply by chance...adulthood diseases hypertension and type II diabetes. I hypothesized that prenatal exposure to excess testosterone from days 30 to 90 of gestation

  1. Antenatal 3-D sonographic features of uterine synechia.

    PubMed

    Sato, Miki; Kanenishi, Kenji; Ito, Megumi; Tanaka, Hirokazu; Takemoto, Mikihiko; Hata, Toshiyuki

    2013-01-01

    We present a case of uterine synechia diagnosed by conventional 2-D color Doppler, 3-D sonography, and magnetic resonance imaging at 26 weeks' gestation. 3-D sonography clearly revealed umbilical cord prolapse through an oblique transverse uterine synechia. Loops of the umbilical cord were below and the fetus was superior to the uterine synechia. The edge of the umbilical cord loops was attached to the amniotic membrane, and a small echo-free space was noted beneath the attachment. 2-D color Doppler showed arterial blood flow consistent with the maternal heart rate. Magnetic resonance imaging confirmed the oblique horizontal membrane dividing the uterus with umbilical cord prolapse, its attachment to the amniotic membrane, and a small echo-free space in the low, liquor-filled amniotic cavity. We demonstrate how 3-D sonography provided a novel visual depiction of uterine synechia, which greatly helped in prenatal diagnosis and counseling.

  2. Prenatal features of Noonan syndrome: prevalence and prognostic value.

    PubMed

    Baldassarre, G; Mussa, A; Dotta, A; Banaudi, E; Forzano, S; Marinosci, A; Rossi, C; Tartaglia, M; Silengo, M; Ferrero, G B

    2011-10-01

    Noonan syndrome (NS) is a common autosomal dominant developmental disorder, mainly characterized by congenital heart defects, short stature, and a variable degree of developmental delay. We have reviewed the prenatal findings in NS and we have correlated them with genotype and postnatal phenotype. The cohort consisted of 47 patients with molecular diagnosis of NS. Prenatal and postnatal phenotypes were assessed by analysis of medical records, and clinical follow-up. Postnatal clinical phenotype, congenital heart disease, neuropsychomotor development, and growth pattern were arbitrarily scored in terms of severity. Mean age at diagnosis of NS was 7 years (ranging from birth to 38 years). Abnormal maternal serum triple screen was present in 36% of cases, nuchal translucency > 2.5 mm in 41%, polyhydramnios in 38% and fetal anomalies at prenatal ultrasonography in 21%. No statistical association was observed between prenatal findings and NS genotype or scores of postnatal clinical phenotype, congenital heart disease, neuropsychomotor development, or short stature. Presence of morphologic fetal anomalies at ultrasonography was associated with developmental delay/intellectual disabilities (p < 0.001) and juvenile myelomonocytic leukaemia (p = 0.006). Abnormal prenatal findings are frequent in NS pregnancies, though they are not specific and most are not useful for the prediction of the postnatal phenotype. Copyright © 2011 John Wiley & Sons, Ltd.

  3. Sonographic evaluation of thyroiditis with color flow study.

    PubMed

    Sultana, N; Rima, S; Rahman, S; Azad, S A; Karim, M E; Shawkat, S; Ahsan, M; Kamal, M M; Begum, M

    2014-01-01

    This cross sectional study was carried out in the Department of Radiology and Imaging, Bangabandhu Sheikh Mujib Medical University, Bangladesh in collaboration with the Department of Endocrinology and Department of Histopathology of the same hospital during the period of March 2007 to February 2008 to determine efficacy of ultrasonogram in the evaluation of thyroiditis and to compare its results with color flow Doppler study. For this purpose, a total of 50 patients having clinical suspicion of thyroiditis were enrolled in this study. Ultrasound and color Doppler were done in all these patients. Then all patients underwent for FNAC in the Histopathology department. Correlation between sonographic diagnosis and histopathological diagnosis were observed. Out of these 50 patients 10(20%) were male and 40 (80%) were female with age ranging from 12 to 50 years, highest between 21 to 30 years. The mean age of the patients was 30.42±9.57 years. On unltrasonographic findings of thyroid gland 42.0% patients had regular and 58.0% had irregular margin. Seventy percent had fibrosis, 14.0% had feature of necrosis, 48.0% had lymphadenopathy. Out of all patients 6.0% had normal echogenic feature, 16.0% had increased and 78.0% decreased echogeneic feature. Twelve percent (12.0%) patients had homogeneous and 88.0% had heterogeneous pattern of echogenecity. Thirty eight percent (38%) patients had focal nodules. Sixty percent (60.0%) patients had focal swelling and 40.0% had diffuse swelling. On color flow Doppler 28.0% had normal, 38.0% had increased and 34.0% decreased vascular flow pattern. USG reports revealed that 48.0% had thyromegaly, 36.0% had thyroid nodule, 10.0% had multinodular goiter and 6.0% had thyroid abscess. FNAC diagnosis revealed that 34.0% patients had Hashimoto's thyroiditis, 24.0% had lymphocytic thyroiditis, 18.0% had granulomatous thyroiditis, 6.0% had abscess, 8.0% had goitre and 10.0% nonspecific. USG and CFD are recommended modalities for the diagnosis of

  4. Sonographic identification of peripheral nerves in the forearm

    PubMed Central

    Jackson, Saundra A.; Derr, Charlotte; De Lucia, Anthony; Harris, Marvin; Closser, Zuheily; Miladinovic, Branko; Mhaskar, Rahul; Jorgensen, Theresa; Green, Lori

    2016-01-01

    Background: With the growing utilization of ultrasonography in emergency medicine combined with the concern over adequate pain management in the emergency department (ED), ultrasound guidance for peripheral nerve blockade in ED is an area of increasing interest. The medical literature has multiple reports supporting the use of ultrasound guidance in peripheral nerve blocks. However, to perform a peripheral nerve block, one must first be able to reliably identify the specific nerve before the procedure. Objective: The primary purpose of this study is to describe the number of supervised peripheral nerve examinations that are necessary for an emergency medicine physician to gain proficiency in accurately locating and identifying the median, radial, and ulnar nerves of the forearm via ultrasound. Methods: The proficiency outcome was defined as the number of attempts before a resident is able to correctly locate and identify the nerves on ten consecutive examinations. Didactic education was provided via a 1 h lecture on forearm anatomy, sonographic technique, and identification of the nerves. Participants also received two supervised hands-on examinations for each nerve. Count data are summarized using percentages or medians and range. Random effects negative binomial regression was used for modeling panel count data. Results: Complete data for the number of attempts, gender, and postgraduate year (PGY) training year were available for 38 residents. Nineteen males and 19 females performed examinations. The median PGY year in practice was 3 (range 1–3), with 10 (27%) in year 1, 8 (22%) in year 2, and 19 (51%) in year 3 or beyond. The median number (range) of required supervised attempts for radial, median, and ulnar nerves was 1 (0–12), 0 (0–10), and 0 (0–17), respectively. Conclusion: We can conclude that the maximum number of supervised attempts to achieve accurate nerve identification was 17 (ulnar), 12 (radial), and 10 (median) in our study. The only

  5. Sonographic identification of peripheral nerves in the forearm.

    PubMed

    Jackson, Saundra A; Derr, Charlotte; De Lucia, Anthony; Harris, Marvin; Closser, Zuheily; Miladinovic, Branko; Mhaskar, Rahul; Jorgensen, Theresa; Green, Lori

    2016-01-01

    With the growing utilization of ultrasonography in emergency medicine combined with the concern over adequate pain management in the emergency department (ED), ultrasound guidance for peripheral nerve blockade in ED is an area of increasing interest. The medical literature has multiple reports supporting the use of ultrasound guidance in peripheral nerve blocks. However, to perform a peripheral nerve block, one must first be able to reliably identify the specific nerve before the procedure. The primary purpose of this study is to describe the number of supervised peripheral nerve examinations that are necessary for an emergency medicine physician to gain proficiency in accurately locating and identifying the median, radial, and ulnar nerves of the forearm via ultrasound. The proficiency outcome was defined as the number of attempts before a resident is able to correctly locate and identify the nerves on ten consecutive examinations. Didactic education was provided via a 1 h lecture on forearm anatomy, sonographic technique, and identification of the nerves. Participants also received two supervised hands-on examinations for each nerve. Count data are summarized using percentages or medians and range. Random effects negative binomial regression was used for modeling panel count data. Complete data for the number of attempts, gender, and postgraduate year (PGY) training year were available for 38 residents. Nineteen males and 19 females performed examinations. The median PGY year in practice was 3 (range 1-3), with 10 (27%) in year 1, 8 (22%) in year 2, and 19 (51%) in year 3 or beyond. The median number (range) of required supervised attempts for radial, median, and ulnar nerves was 1 (0-12), 0 (0-10), and 0 (0-17), respectively. We can conclude that the maximum number of supervised attempts to achieve accurate nerve identification was 17 (ulnar), 12 (radial), and 10 (median) in our study. The only significant association was found between years in practice and

  6. Evaluation of cerebral blood flow in acute ischemic stroke patients with atrial fibrillation: A sonographic study.

    PubMed

    Su, Yu-Chin; Lim, Siew-Na; Yang, Fu-Yi; Lin, Shinn-Kuang

    2017-04-01

    Although cerebral emboli are a frequent cause of cardiogenic stroke, the possibility of a reduction in cerebral perfusion consequent to arrhythmia or impaired cardiac function should be considered in patients with atrial fibrillation (AF). We reviewed sonographic studies and clinical features of patients with acute ischemic stroke. A total of 144 patients with AF and 144 age- and sex-matched patients with small vessel occlusion but without AF were included. Patients with AF had significantly lower peak systolic velocity (PSV), mean velocity, flow volume (p < 0.001), and end-diastolic velocity (p = 0.035) of the internal carotid artery (ICA); significantly lower cerebral blood flow (p < 0.001); and lower flow velocities of the middle cerebral artery (p < 0.01) than patients with small vessel occlusion but without AF. In patients with AF, there was an inverse linear correlation between ICA end-diastolic velocity, mean velocity (p < 0.001), flow volume (p = 0.025), middle cerebral artery flow velocities (p < 0.05), and age. Cardiac ejection fraction had a positive linear correlation with ICA PSV (p = 0.016) but an inverse correlation with the heart rate (p = 0.009). There was a significant decline in PSV (p = 0.002), resistance index (p < 0.001), and flow volume (p = 0.0121) of the ICA as well as cerebral blood flow (p = 0.009) as the heart rate increased. Cerebral blood flow is markedly reduced in ischemic stroke patients with AF as compared with that in patients with small vessel disease but without AF. Copyright © 2016. Published by Elsevier B.V.

  7. Risk Stratification of Neck Lesions Detected Sonographically During the Follow-Up of Differentiated Thyroid Cancer.

    PubMed

    Lamartina, Livia; Grani, Giorgio; Biffoni, Marco; Giacomelli, Laura; Costante, Giuseppe; Lupo, Stefania; Maranghi, Marianna; Plasmati, Katia; Sponziello, Marialuisa; Trulli, Fabiana; Verrienti, Antonella; Filetti, Sebastiano; Durante, Cosimo

    2016-08-01

    The European Thyroid Association (ETA) has classified posttreatment cervical ultrasound findings in thyroid cancer patients based on their association with disease persistence/recurrence. The objective of the study was to assess this classification's ability to predict the growth and persistence of such lesions during active posttreatment surveillance of patients with differentiated thyroid cancer (DTC). This was a retrospective, observational study. The study was conducted at a thyroid cancer center in a large Italian teaching hospital. Center referrals (2005-2014) were reviewed and patients selected with pathologically-confirmed DTC; total thyroidectomy, with or without neck dissection and/or radioiodine remnant ablation; abnormal findings on two or more consecutive posttreatment neck sonograms; and subsequent follow-up consisting of active surveillance. Baseline ultrasound abnormalities (thyroid bed masses, lymph nodes) were classified according to the ETA system. Patients were divided into group S (those with one or more lesions classified as suspicious) and group I (indeterminate lesions only). We recorded baseline and follow-up clinical data through June 30, 2015. The main outcomes were patients with growth (>3 mm, largest diameter) of one or more lesions during follow-up and patients with one or more persistent lesions at the final visit. The cohort included 58 of the 637 DTC cases screened (9%). A total of 113 lesions were followed up (18 thyroid bed masses, 95 lymph nodes). During surveillance (median 3.7 y), group I had significantly lower rates than group S of lesion growth (8% vs 36%, P = .01) and persistence (64% vs 97%, P = .014). The median time to scan normalization was 2.9 years. The ETA's evidence-based classification of sonographically detected neck abnormalities can help identify papillary thyroid cancer patients eligible for more relaxed follow-up.

  8. Prenatal screening for fetal aneuploidy in singleton pregnancies.

    PubMed

    Chitayat, David; Langlois, Sylvie; Douglas Wilson, R

    2011-07-01

    for aneuploidy, and it should not be used a basis for recommending invasive testing when non-invasive prenatal screening for aneuploidy is available. (II-2A) 4. Invasive prenatal diagnosis for cytogenetic analysis should not be performed without multiple marker screening results except for women who are at increased risk of fetal aneuploidy (a) because of ultrasound findings, (b) because the pregnancy was conceived by in vitro fertilization with intracytoplasmic sperm injection, or (c) because the woman or her partner has a history of a previous child or fetus with a chromosomal abnormality or is a carrier of a chromosome rearrangement that increases the risk of having a fetus with a chromosomal abnormality. (II-2E) 5. At minimum, any prenatal screen offered to Canadian women who present for care in the first trimester should have a detection rate of 75% with no more than a 3% false-positive rate. The performance of the screen should be substantiated by annual audit. (III-B) 6. The minimum standard for women presenting in the second trimester should be a screen that has a detection rate of 75% with no more than a 5% false-positive rate. The performance of the screen should be substantiated by annual audit. (III-B) 7. First trimester nuchal translucency should be interpreted for risk assessment only when measured by sonographers or sonologists trained and accredited for this service and when there is ongoing quality assurance (II-2A), and it should not be offered as a screen without biochemical markers in singleton pregnancies. (I-E) 8. Evaluation of the fetal nasal bone in the first trimester should not be incorporated as a screen unless it is performed by sonographers or sonologists trained and accredited for this service and there is ongoing quality assurance. (II-2E) 9. For women who undertake first trimester screening, second trimester serum alpha fetoprotein screening and/or ultrasound examination is recommended to screen for open neural tube defects. (II-1A) 10

  9. Prenatal management of anencephaly.

    PubMed

    Cook, Rebecca J; Erdman, Joanna N; Hevia, Martin; Dickens, Bernard M

    2008-09-01

    About a third of anencephalic fetuses are born alive, but they are not conscious or viable, and soon die. This neural tube defect can be limited by dietary consumption of foliates, and detected prenatally by ultrasound and other means. Many laws permit abortion, on this indication or on the effects of pregnancy and prospects of delivery on a woman's physical or mental health. However, abortion is limited under some legal systems, particularly in South America. To avoid criminal liability, physicians will not terminate pregnancies, by induced birth or abortion, without prior judicial approval. Argentinian courts have developed means to resolve these cases, but responses of Brazilian courts are less clear. Ethical concerns relate to late-term abortion, meaning after the point of fetal viability, but since anencephalic fetuses are nonviable, many ethical concerns are overcome. Professional guidance is provided by several professional and institutional codes on management of anencephalic pregnancies.

  10. The ureterovesical junction in children: sonographic findings after surgical or endoscopic treatment.

    PubMed

    Rypens, F; Avni, E F; Bank, W O; Schulman, C C; Struyven, J

    1992-04-01

    We retrospectively analyzed pre- and postoperative sonographic and medical records of 335 children who had surgical or endoscopic treatment at the ureterovesical junction, in order to determine normal and atypical sonographic appearances. Normal sonographic findings after ureteral reimplantation include thickening of the posterior bladder wall, pseudodiverticular sacculations, bladder asymmetry, and transitory hydroureteronephrosis. Short-term or persistent (lasting more than 1 month) hydroureteronephrosis, urinoma, hematoma, bladder lithiasis, and diverticula were abnormal findings, occurring in 17% of the patients. After partial ureteronephrectomies, visualization of the residual ureter on sonograms was not possible in cases without complications; in one patient, reflux of fluid dilated the residual ureter and made the ureter visible on sonograms. After endoscopic incisions, the masslike appearance of a collapsed ureterocele was observed. Submucosally injected Teflon always appeared as a curvilinear hyperechoic area with an acoustic shadow. Marked acute or persistent hydroureteronephrosis or ectopic intracavitary Teflon particles were observed in 2% of patients. Granuloma formation was considered likely in 5% of the patients when the area of injected Teflon material was longer than 12 mm on sonograms. Submucosally injected collagen appeared less echogenic than Teflon and showed no acoustic shadowing. The various normal sonographic appearances after treatment must be known in order to distinguish them from significant abnormalities. In patients with anatomic anomalies, such as short-term or persistent hydroureteronephrosis, urinoma, hematoma, and lithiasis, complementary uroradiologic examinations may be necessary to clarify the diagnosis.

  11. Remote sonographic interpretation: comparison of standardized video clips to still images.

    PubMed

    Parsai, Arman; Zerizer, Imene; Hohmann, Joachim; Bongartz, Georg; Beglinger, Christoph; Sperandeo, Giuseppe

    2012-10-01

    The aim of our study was to evaluate the role of standardized video clips compared with still images in the diagnostic accuracy of remote sonographic interpretation. We compared the remote interpretation of sonographic examinations acquired with a standardized video clip approach to examinations performed with still images alone in 60 patients with various hepatic and extrahepatic pathologies. The use of video clips improved the diagnostic accuracy of sonographic studies interpreted remotely compared with the use of still images (p < 0.0001). The sensitivity, specificity, and positive and negative predictive values increased from 47.3% to 68.3%, 81.8% to 87.8%, 71.5% to 81%, and 63.8% to 74.5%, respectively. Standardized video clips are easy to obtain, less operator-dependent than still images, and can be transferred to remote sites without loss of important data. We recommend this method in remote interpretation (teleradiology and distant consultation) of sonographic examinations. Copyright © 2012 Wiley Periodicals, Inc.

  12. Improved diagnosis of breast implant rupture with sonographic findings and artificial neural networks.

    PubMed

    Venta, L A; Salchenberger, L M; Venta, E R

    1998-04-01

    The authors evaluated the use of sonographic findings combined with artificial neural networks as an aid to the diagnosis of breast implant rupture. From a database of 78 breast implants that were evaluated prospectively with sonography and then surgically removed, sonographic findings and surgical results were used to train and test backpropagation and radial basis function artificial neural networks by using the leave-one-out method. Receiver operating characteristic (ROC) curve analysis was used to compare the performance of the different neural networks with that of the radiologists involved. By using the ROC area index as a measure of performance, the artificial neural network (Az = 0.8744) outperformed the radiologists (Az = 0.8057), although not by a statistically significant difference (P = .09). The best-performing network used, in addition to the sonographic findings, the diagnosis of the radiologist as an input. This network (Az = 0.9245) outperformed both the radiologists and the "unaided" networks by a statistically significant margin (P = .02 for radiologists, P = .04 for the unaided network). The network performed remarkably well in those cases in which the radiologists classified the implant as indeterminate, predicting the correct diagnosis in 23 of 25 cases (92%). The results suggest that artificial neural networks in tandem with the unaided radiologic diagnosis can improve the accuracy rate in the detection of implant rupture based on sonographic findings. This "team" approach provided the best results.

  13. Urethral length measurement in women during sonographic urethrocystography - an analysis of repeatability and reproducibility.

    PubMed

    Wlaźlak, Edyta; Kociszewski, Jacek; Suzin, Jacek; Dresler, Maria; Surkont, Grzegorz

    2016-03-01

    There has been a rise in the use of sonographic urethrocystography in patients with a full bladder. So far, no publications have been made on the analysis of repeatability and reproducibility of the measurements performed during this procedure. An assessment of repeatability and reproducibility of urethral length measurements during sonographic urethrocystography in females with a full bladder in the introital approach, using real-time two-dimensional transvaginal ultrasound. The ultrasound was performed in accordance with a standardized technique in female patients with a full bladder containing 200-300 mL of liquid. A total of 92 patients were included in the analysis. The Intraclass Correlation Coefficient for repeatability and reproducibility of urethral length measurements in sonographic urethrocystography ranged between 0.9217 and 0.9873 (p = 0.0000). The analysis of ultrasound urethral length measurements taken by two different physicians at an interval of several months confirmed their very high compatibility (ICC = 0.81, p = 0.000). Very good repeatability and reproducibility of urethral length findings during sonographic urethrocystography performed in accordance with the presented technique support the possible use of this type of examination in both clinical practice and research.

  14. The association between inadequate prenatal care and future healthcare use among offspring in the Bedouin population.

    PubMed

    Estis-Deaton, Asia; Sheiner, Eyal; Wainstock, Tamar; Landau, Daniella; Walfisch, Asnat

    2017-08-30

    To evaluate the impact of inadequate prenatal care on long-term morbidity among the offspring of an ethnic minority population. A retrospective population-based cohort analysis was performed among all Bedouin women with singleton pregnancies who delivered in a tertiary medical center in Israel between January 1, 1991, and January 1, 2014. Morbidity was defined as pediatric hospitalization across six distinct disease categories before 18 years of age. The cumulative morbidity rates were compared for offspring born following pregnancies with either inadequate (<3 visits to prenatal care facility) or adequate prenatal care. Overall, 127 396 neonates were included; 19 173 (15.0%) were born following inadequate prenatal care. Pediatric hospitalizations for all morbidities other than cardiovascular ones were less frequent among the inadequate prenatal care group than the adequate prenatal care group (P<0.05). Survival curves demonstrated a lowered cumulative incidence for all morbidities in the inadequate prenatal care group, with the exception of cardiovascular disease. Inadequate prenatal care correlated with reduced pediatric hospitalization rates among offspring, possibly owing to a lack of child healthcare service utilization within the Bedouin population. © 2017 International Federation of Gynecology and Obstetrics.

  15. Choosing Your Prenatal Care Provider

    MedlinePlus

    ... care is choosing your provider. Who can you go to for prenatal care? You can choose who ... baby if your provider’s not available when you go into labor? What hospital or birthing center does ...

  16. Prenatal Care: First Trimester Visits

    MedlinePlus

    ... your partner in the appointment as well. Medical history Your health care provider will ask many questions, ... pregnancy-week-by-week/in-depth/prenatal-care/art-20044882 . Mayo Clinic Footer Legal Conditions and Terms ...

  17. Prenatal features of Pena-Shokeir sequence with atypical response to acoustic stimulation.

    PubMed

    Pittyanont, Sirida; Jatavan, Phudit; Suwansirikul, Songkiat; Tongsong, Theera

    2016-09-01

    A fetal sonographic screening examination performed at 23 weeks showed polyhydramnios, micrognathia, fixed postures of all long bones, but no movement and no breathing. The fetus showed fetal heart rate acceleration but no movement when acoustic stimulation was applied with artificial larynx. All these findings persisted on serial examinations. The neonate was stillborn at 37 weeks and a final diagnosis of Pena-Shokeir sequence was made. In addition to typical sonographic features of Pena-Shokeir sequence, fetal heart rate accelerations with no movement in response to acoustic stimulation suggests that peripheral myopathy may possibly play an important role in the pathogenesis of the disease. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 44:459-462, 2016.

  18. Prenatal education for congenital toxoplasmosis.

    PubMed

    Di Mario, Simona; Basevi, Vittorio; Gagliotti, Carlo; Spettoli, Daniela; Gori, Gianfranco; D'Amico, Roberto; Magrini, Nicola

    2009-01-21

    Congenital toxoplasmosis is considered a rare but potentially severe infection. Prenatal education about congenital toxoplasmosis could be the most efficient and least harmful intervention, yet its effectiveness is uncertain. To assess the effects of prenatal education for preventing congenital toxoplasmosis. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (November 2007), CENTRAL (The Cochrane Library 2007, Issue 3), MEDLINE (1966 to November 2007), EMBASE (1980 to November 2007), CINAHL (1982 to November 2007), LILACS (1982 to November 2007) IMEMR (1984 to November 2007), and reference lists of relevant papers, reviews and websites. Randomized and quasi-randomized controlled trials (RCT) of all types of prenatal education on toxoplasmosis infection during pregnancy. Three authors independently assessed study quality and extracted data. One cluster-randomized controlled trial (432 women) met the inclusion criteria. However, the overall methodological quality was poor. The authors did not report measure of association but only provided P values (P less than 0.05) for all outcomes. The authors concluded that prenatal education can effectively change pregnant women's behavior as it increased pet, personal and food hygiene. There are no randomized trials on the effect of prenatal education on congenital toxoplasmosis rate, or toxoplasmosis seroconversion rate during pregnancy, but three observational studies consistently suggest that prenatal education might have a positive impact on these outcomes. Even though primary prevention of congenital toxoplasmosis is considered a desirable intervention, given the lack of related risks compared to secondary and tertiary prevention, its effectiveness has not been adequately evaluated. There is very little evidence from RCTs that prenatal education is effective in reducing congenital toxoplasmosis even though evidence from observational studies suggests it is. Given the lack of good evidence supporting

  19. Prenatal anxiety effects: A review.

    PubMed

    Field, Tiffany

    2017-09-05

    This review is based on literature on prenatal anxiety effects that was found on Pubmed and PsycINFO for the years 2010-2016. Prenatal anxiety is thought to have distinct features, although it has been measured both by specific prenatal anxiety symptoms as well as by standardized anxiety scales. Its prevalence has ranged from 21 to 25% and it has been predicted by a number of pregnancy - related variables such as unintended pregnancy, demographic variables such as low acculturation and income and psychosocial factors including pessimism and partner tension. Prenatal anxiety effects on pregnancy include increased cortisol levels, pro-inflammatory cytokines, obstetric problems and cesarean section. Effects on the neonate include lower gestational age, prematurity, less insulin-like growth factor in cord blood, less exclusive breast-feeding and less self-regulation during the heelstick procedure. Prenatal anxiety effects continue into infancy and childhood both on physiological development and emotional/mental development. Among the physiological effects are lower vagal activity across the first two years, and lower immunity, more illnesses and reduced gray matter in childhood. Prenatal anxiety effects on emotional/mental development include greater negative emotionality and in infants, lower mental development scores and internalizing problems. Anxiety disorders occur during childhood and elevated cortisol and internalizing behaviors occur during adolescence. Interventions for prenatal anxiety are virtually nonexistent, although stroking (massaging) the infant has moderated the pregnancy - specific anxiety effects on internalizing behaviors in the offspring. The limitations of this literature include the homogeneity of samples, the frequent use of anxiety measures that are not specific to pregnancy, and the reliance on self-report. Nonetheless, the literature highlights the negative, long-term effects of prenatal anxiety and the need for screening and early

  20. Prenatal counseling regarding cesarean delivery.

    PubMed

    Leeman, Lawrence M

    2008-09-01

    In 1970, the cesarean delivery rate in the United States was 5.5% and women receiving prenatal care only required the knowledge that cesarean delivery was an uncommon solution to dire obstetric emergencies. In 2008, when almost one in three women deliver by cesarean, counseling on cesarean delivery must be part of each woman's prenatal care. The content of that discussion varies based on the woman's obstetric history and the anticipated mode of delivery.

  1. Variable color Doppler sonographic appearances of retained products of conception: radiologic-pathologic correlation.

    PubMed

    Kamaya, Aya; Krishnarao, Priya M; Folkins, Ann K; Jeffrey, R Brooke; Desser, Terry S; Maturen, Katherine E

    2015-10-01

    Retained products of conception (RPOC) displays variable vascularity, ranging from avascular to markedly vascular on color Doppler sonography. We hypothesize that variability in sonographic vascularity may be due to histopathologic variation in the placental tissue. After institutional review board approval, sonographic images and pathologic specimens were retrospectively reviewed in 26 patients with pathologically proven RPOC. Ultrasound (US) images were scored 0-3 for the degree of vascularity by two radiologists blinded to the diagnosis. Corresponding pathologic specimens were evaluated for vascularization of chorionic villi, degree of inflammation, morphology of maternal arteries, chorionic villous preservation, and percentage of clot, membranes, chorionic villi, and decidua/myometrium. Statistical analysis, including multiple linear regression, was performed. RPOC with histologically avascular chorionic villi or those with markedly reduced vascularization had significantly lower US vascularity scores (p = 0.030) than those with chorionic villi showing normal or decreased vascularization. Sonographically avascular RPOC had a significantly lower percentage villi (p = 0.028) and higher percentage of decidua (p = 0.004) than specimens where US showed any Doppler vascularity. Histologic vascularity of villi (p = 0.049) and non-observation of maternal arteries (p = 0.001) were significant predictors of US vascularity scores in multivariate linear regression analysis, while inflammation of villi (p = 0.053) was a marginally significant predictor. Histologic vascularity of villi appears to contribute to the observed variation in sonographic vascularity. This finding may underlie known differences in clinical outcomes between sonographic vascularity groups.

  2. [Association between sonographic findings and histological diagnosis of 446 ovarian tumors].

    PubMed

    Franzin, Cleide Mara Mazzotti de Oliveira; Marussi, Emílio Francisco; Zeferino, Luiz Cralos; Sarian, Luís Otávio Zanatta; Prada, Mariana Fonseca

    2006-01-01

    The objective was to analyze the correlations between the sonographic features of the ovarian masses and the histological diagnosis. A retrospective study which involved 404 female subjects who had developed 446 ovarian masses was carried out. Patients who had been submitted to surgery due to uni or bilateral ovarian tumors were included and those presenting with an ectopic pregnancy or pelvic inflammatory process were excluded. Data from the patients' medical charts provided the information needed for a detailed study of the following variables: larger diameter, external borders and texture of the sonographic masses. This collected data was correlated to post surgery pathology diagnoses. The magnitude of the associations between pathology diagnoses and sonographic morphologic findings where estimated by the Odds Ratio with its respective confidence intervals of 95%. In their majority, masses were benign tumors (88.1%). Malign masses corresponded to 9.4 % of the total and only 2.5% were borderline. Patients' ages ranged from 13 to 63 years (with an average of 39.1). Regarding the irregular and poorly delimited borders of the masses, the odds ratio for malignancy was of 17.8. After analyses of the sonographic texture the odds ratio of complex texture masses proved to be extremely high (38.6). The anechoic masses with thickened septa had an odds ratio of 35.6, while that of the solid masses was of 15.5. Sonographic analyses of adnexal tumors having more than 7 cm of diameter, irregular and poorly delimited external borders, presenting complex or anechoic textures with thickened septa or solid mass are highly suggestive of malignancy.

  3. Interobserver and Intraobserver Agreement of Sonographic BIRADS Lexicon in the Assessment of Breast Masses.

    PubMed

    Elverici, Eda; Zengin, Betul; Nurdan Barca, Ayse; Didem Yilmaz, Pinar; Alimli, Aysegul; Araz, Levent

    2013-09-01

    BI-RADS was first developed in 1993 for mammography and in 2003 it was redesigned for ultrasonography (US). If the observer agreement is high, the method used in the classification of lesion would be reproducible. The aim of this study is to evaluate the inter- and intraobserver agreement of sonographic BI-RADS lexicon in the categorization and feature characterization of nonpalpable breast lesions. We included 223 patients with 245 nonpalpable breast lesions who underwent ultrasound-guided wire needle localization. Two radiologists retrospectively described each lesion using sonographic BI-RADS descriptors and final assessment. The observers were blinded to mammographic images, medical history and pathologic results. Inter- and intraobserver agreement was assessed using Kappa (κ) agreement coefficient. The interobserver agreement for sonographic descriptors changed between fair and substantial. The highest agreement was detected for mass orientation (κ=0.66). The lowest agreement was found in the margin (κ=0.33). The interobserver agreement for BI-RADS final category was found as fair (κ=0.35). The intraobserver agreement for sonographic descriptors changed between substantial and almost perfect. The intraobserver agreement of BI-RADS result category was found as substantial for observer 1 (κ=0.64) and excellent for observer 2 (κ=0.83). Our results demonstrated that each observer was self-consistent in interpreting US BI-RADS classification, while interobserver agreement was relatively poor. Although it has been ten years since the description of sonographic BI-RADS lexicon, further training and periodic performance evaluations would probably help to achieve better agreement among radiologists.

  4. Do echo-enhanced needles make a difference in sonographically guided vascular access?

    PubMed

    Crum, Todd; Adhikari, Srikar; Lander, Lina; Blaivas, Michael

    2014-04-01

    The purpose of this study was to compare sonographically guided vascular access using standard and echo-enhanced needles in a variety of tissue-simulating vascular phantoms. We conducted a prospective single-blinded observational study at an academic medical center. All participants performed real-time sonographically guided vascular access using both a standard 18-gauge needle and an echo-enhanced needle in both in-plane and out-of plane approaches on 3 different vascular access phantoms. The outcome measures included time to dye flash, first-pass success, visibility of the needle tip at the time of puncture, total number of attempts, number of redirections, and incidence of posterior wall penetration. A total of 408 sonographically guided cannulations were performed by 34 participants. The time from needle stick to dye flash, first-pass success, and the total number of attempts were not significantly different between the two needles (P> .05). The tip of the needle was seen at the time of puncture in 79% of attempts with the standard needle (95% confidence interval [CI], 68%-86%) and in 86% of attempts with the echo-enhanced needle (95% CI, 76%-92%), although this difference was not significant (P= .103). The posterior wall was penetrated with the standard needle in 14% of attempts (95% CI, 9.6%-20%) and in 6% of attempts with the echo-enhanced needle (95% CI, 3.5%-11%), and the difference was significant (P < .02). Echo-enhanced needles decreased the incidence of posterior wall punctures when compared to standard needles during sonographically guided vascular access. However, there were no significant differences in other sonographically guided vascular access metrics.

  5. Sonographic assessment of healthy peripheral joints: evaluation according to demographic parameters.

    PubMed

    Machado, Flavia S; Natour, Jamil; Takahashi, Rogerio D; de Buosi, Ana Leticia P; Furtado, Rita N V

    2014-12-01

    To describe quantitative and semiquantitative sonographic joint measurements in healthy adults and compare them with demographic parameters. A cross-sectional study was conducted. Bilateral sonographic measurements of small, medium, and large joints were performed in 130 healthy volunteers, stratified into 5 age groups (A, 18-29; B, 30-39; C, 40-49; D, 50-59; and E, 60-80 years). Quantitative synovial hypertrophy measurements and semiquantitative synovial hypertrophy, power Doppler, bone erosion (score 0-3), and articular cartilage (score 0-4) measurements were performed by a blinded radiologist using a 6-18-MHz linear array transducer. The sonographic measurements were correlated with demographic parameters. The significant P value was set at .05. A total of 6500 joint recesses were studied; the mean age ± SD of the participants was 44.8 ± 14.6 years, and 76.9% were women. The highest quantitative synovial hypertrophy values were found in the hip (6.4 mm) and talonavicular joint (2.6 mm). The joint recesses with a greater frequency of hypothetical pathologic semiquantitative scores were second metatarsophalangeal (78.8%) and first metatarsophalangeal (69.3%) for synovial hypertrophy, radiocarpal (17.7%) and first metatarsophalangeal (15.8%) for power Doppler, and posterior glenohumeral (23.1%) and ulnocarpal (4.2%) for bone erosion. The highest quantitative synovial hypertrophy values and the lowest semiquantitative synovial hypertrophy, power Doppler, bone erosion, and articular cartilage scores were observed in age group E (P < .046). There were positive correlations between the sonographic measurements and height, age, weight, and body mass index in 30.4%, 34.8%, 43.5%, and 47.8%, respectively, of all the joint recesses studied. Sonographic changes in healthy peripheral joints were observed predominantly in the oldest group. © 2013 by the American Institute of Ultrasound in Medicine.

  6. Early prenatal detection of double outlet right ventricle by echocardiography.

    PubMed Central

    Stewart, P A; Wladimiroff, J W; Becker, A E

    1985-01-01

    A double outlet right ventricle with subpulmonary ventricular septal defect and right sided hypoplastic aorta was diagnosed in a 22 week fetus of a mother with diabetes mellitus. Elective termination of pregnancy was carried out and the echocardiographic findings were confirmed. Early prenatal detection of congenital heart disease may allow elective termination of pregnancy when the fetus has severe defects. Images PMID:4041305

  7. Prenatal Foundations: Fetal Programming of Health and Development

    ERIC Educational Resources Information Center

    Davis, Elysia Poggi; Thompson, Ross A.

    2014-01-01

    The fetal programming and developmental origins of disease models suggest that experiences that occur before birth can have consequences for physical and mental health that persist across the lifespan. Development is more rapid during the prenatal period as compared to any other stage of life. This introductory article considers evidence that…

  8. Prenatal Foundations: Fetal Programming of Health and Development

    ERIC Educational Resources Information Center

    Davis, Elysia Poggi; Thompson, Ross A.

    2014-01-01

    The fetal programming and developmental origins of disease models suggest that experiences that occur before birth can have consequences for physical and mental health that persist across the lifespan. Development is more rapid during the prenatal period as compared to any other stage of life. This introductory article considers evidence that…

  9. Prenatal meditation influences infant behaviors.

    PubMed

    Chan, Ka Po

    2014-11-01

    Meditation is important in facilitating health. Pregnancy health has been shown to have significant consequences for infant behaviors. In view of limited studies on meditation and infant temperament, this study aims to explore the effects of prenatal meditation on these aspects. The conceptual framework was based on the postulation of positive relationships between prenatal meditation and infant health. A randomized control quantitative study was carried out at Obstetric Unit, Queen Elizabeth Hospital in Hong Kong. 64 pregnant Chinese women were recruited for intervention and 59 were for control. Outcome measures were cord blood cortisol, infant salivary cortisol, and Carey Infant Temperament Questionnaire. Cord blood cortisol level of babies was higher in the intervention group (p<0.01) indicates positive health status of the newborns verifies that prenatal meditation can influence fetal health. Carey Infant Temperament Questionnaire showed that the infants of intervention group have better temperament (p<0.05) at fifth month reflects the importance of prenatal meditation in relation to child health. Present study concludes the positive effects of prenatal meditation on infant behaviors and recommends that pregnancy care providers should provide prenatal meditation to pregnant women.

  10. Prenatal Depression Restricts Fetal Growth

    PubMed Central

    Diego, Miguel A.; Field, Tiffany; Hernandez-Reif, Maria; Schanberg, Saul; Kuhn, Cynthia; Gonzalez-Quintero, Victor Hugo

    2009-01-01

    Objective To identify whether prenatal depression is a risk factor for fetal growth restriction. Methods Midgestation (18-20 weeks GA) estimated fetal weight and urine cortisol and birth weight and gestational age at birth data were collected on a sample of 40 depressed and 40 non-depressed women. Estimated fetal weight and birthweight data were then used to compute fetal growth rates. Results Depressed women had a 13% greater incidence of premature delivery (Odds Ratio (OR) = 2.61) and 15% greater incidence of low birthweight (OR = 4.75) than non-depressed women. Depressed women also had elevated prenatal cortisol levels (p = .006) and fetuses who were smaller (p = .001) and who showed slower fetal growth rates (p = .011) and lower birthweights (p = .008). Mediation analyses further revealed that prenatal maternal cortisol levels were a potential mediator for the relationship between maternal symptoms of depression and both gestational age at birth and the rate of fetal growth. After controlling for maternal demographic variables, prenatal maternal cortisol levels were associated with 30% of the variance in gestational age at birth and 14% of the variance in the rate of fetal growth. Conclusion Prenatal depression was associated with adverse perinatal outcomes, including premature delivery and slower fetal growth rates. Prenatal maternal cortisol levels appear to play a role in mediating these outcomes. PMID:18723301

  11. [First facioscapulohumeral muscular dystrophy prenatal diagnosis in a Bulgarian family].

    PubMed

    Buzhkov, B Ts; Vŭzharova, R; Dimitrova, V; Dimova, I; Tŭrnev, I; van der Wielen, M; van der Maarel, S; Bakker, B

    2005-01-01

    Facioscapulohumeral muscular dystrophy (FSHD) is the third most common myopathy. It is characterized by progressive descendent involvement of facial, shoulder girdle, truncal and lower extremities muscles. FSHD locus was mapped on the terminal part of the long arm of chromosome 4 (4q35). The disease is caused by a deletion of an integral number of tandem D4Z4 repeats and dimension of the pathological fragments < or = 38kb. Prenatal diagnosis of FSHD is possible but it is potentially difficult because of the big amount and high quality of DNA required. Hereby we describe the first prenatal tests performed for a Bulgarian family.

  12. Prenatal screening for clubfoot: What factors predict prenatal detection?

    PubMed Central

    Mahan, Susan T.; Yazdy, Mahsa M.; Kasser, James R.; Werler, Martha M.

    2014-01-01

    Objective Routine prenatal ultrasound has often resulted in the early detection of musculoskeletal disorders. The purpose of this study was to determine which socioeconomic factors are associated with prenatal detection of clubfoot. Methods The Slone Epidemiology Center at Boston University identified infants in three states (MA, NY, NC) who were reported as having a clubfoot. Mothers of these children were contacted, interviewed, and medical records obtained. Data were analyzed by using logistic regression to estimate odds ratios (ORs) and 95% confidence intervals (CIs). Results Overall detection of the clubfoot prenatally was 62.3% (421/676) but this varied considerably by state: 81.1% in Massachusetts (154/190), 58.5% in New York (124/212), and 52.2% in North Carolina (143/274). Multivariate analysis revealed the strongest predictors for prenatal detection were maternal age ≥ 35 years (OR: 3.54), non-Hispanic black race (OR: 0.49), the presence of another birth defect (OR: 2.61), residing in Massachusetts (OR: 2.64) and the presence of a bilateral clubfoot (OR: 1.90). Conclusions We found a statistically significantly increase higher rate of prenatal detection of clubfoot in Massachusetts and decrease lower rate in younger mothers (age<35) and black mothers, even after adjustment for other sociodemographic variables. PMID:24395154

  13. Prenatal Diagnosis of β-Thalassemias and Hemoglobinopathies.

    PubMed Central

    Rosatelli, Maria Cristina; Saba, Luisella

    2009-01-01

    Prenatal diagnosis of β-thalassemia was accomplished for the first time in the 1970s by globin chain synthesis analysis on fetal blood obtained by placental aspiration at 18–22 weeks gestation. Since then, the molecular definition of the β-globin gene pathology, the development of procedures of DNA analysis, and the introduction of chorionic villous sampling have dramatically improved prenatal diagnosis of this disease and of related disorders. Much information is now available about the molecular mechanisms of the diseases and the molecular testing is widespread. As prenatal diagnosis has to provide an accurate, safe and early result, an efficient screening of the population and a rapid molecular characterization of the couple at risk, are necessary prerequisites. In the last decades earlier and less invasive approaches for prenatal diagnosis were developed. A overview of the most promising procedure will be done. Moreover, in order to reduce the choice of interrupting the pregnancy in case of affected fetus, Preimplantation or Preconceptional Genetic Diagnosis (PGD) has been setting up for several diseases including thalassemias PMID:21415992

  14. [State of the art prenatal care from the Swiss viewpoint].

    PubMed

    Hüsler, M; Krähenmann, F; Streicher, A; Zimmermann, R

    2002-12-01

    Prenatal care has significantly reduced perinatal and maternal mortality. Screening for maternal disease allows us to reduce or to prevent an unfavourable fetal or obstetrical outcome. Prenatal care should start with a first preconceptional visit. Folic acid intake is recommended for all reproductive-age women who are capable of becoming pregnant. The fetal nuchal translucency measurement has revolutionized prenatal care as a non-invasive, effective screening for chromosomal abnormalities and other diseases of the fetus. Vertical transmission of infections has to be prevented if possible. As an example caesarean section in combination with antiretroviral therapy reduces the transmission of HIV significantly. Screening for sexually transmitted diseases (STD) remains important as at present the incidence of STD is increasing again. In this short review on prenatal care as it is done in Switzerland, we try to enlighten its most important aspects. For the patients and your own benefit as a physician it is important to follow guidelines, although of course each patient has to be treated individually.

  15. Prenatal exercise research.

    PubMed

    Field, Tiffany

    2012-06-01

    In this review of recent research on prenatal exercise, studies from several different countries suggest that only approximately 40% of pregnant women exercise, even though about 92% are encouraged by their physicians to exercise, albeit with some 69% of the women being advised to limit their exercise. A moderate exercise regime reputedly increases infant birthweight to within the normal range, but only if exercise is decreased in late pregnancy. Lower intensity exercise such as water aerobics has decreased low back pain more than land-based physical exercise. Heart rate and blood pressure have been lower following yoga than walking, and complications like pregnancy-induced hypertension with associated intrauterine growth retardation and prematurity have been less frequent following yoga. No studies could be found on tai chi with pregnant women even though balance and the risk of falling are great concerns during pregnancy, and tai chi is one of the most effective forms of exercise for balance. Potential underlying mechanisms for exercise effects are that stimulating pressure receptors during exercise increases vagal activity which, in turn, decreases cortisol, increases serotonin and decreases substance P, leading to decreased pain. Decreased cortisol is particularly important inasmuch as cortisol negatively affects immune function and is a significant predictor of prematurity. Larger, more controlled trials are needed before recommendations can be made about the type and amount of pregnancy exercise.

  16. Determinants of the use of prenatal care in rural China: the role of care content.

    PubMed

    Nwaru, Bright I; Wu, Zhuochun; Hemminki, Elina

    2012-01-01

    Several maternal demographic factors have been identified to influence the timing of starting prenatal care and its adequate use. However, how the content of prenatal care modifies these factors has not been studied previously. Using a representative sample collected for other purposes in rural China, we examined the factors predicting the uptake of prenatal care by taking into account the content of care (advice: on nutrition during pregnancy, diseases and pregnancy-related problems, and on child care after birth; and routine tests: blood pressure, blood tests, and ultrasound). We studied 1,479 women who answered a house-hold KAP (knowledge, attitude, and practice) survey (97% response rate) collected after a prenatal care intervention from 2001 to 2003 in 20 townships located in a county in Anhui Province. A multinomial logistic regression was used for the analysis. The most prominent factors that predicted late start of prenatal care and inadequate care were younger age, low maternal income, and having more than one child. When we adjusted for the content of care, the influence of these factors on the use of prenatal care attenuated to varying degrees: in some cases there was up to 20% reduction in the values of the risk estimates, while in other cases the statistical significance of the estimates were lost. It is important to take into account the content of prenatal care when assessing the factors predicting women's use of prenatal care.

  17. Child Health USA 2013: Prenatal Care Utilization

    MedlinePlus

    ... Accessed: on 7/31/13 ↑ Back to top Graphs This image is described in the Data section. ... this! Email Print-Friendly Downloads Prenatal Care Utilization Graphs (56k zipped folder of 2 GIFs) Prenatal Care ...

  18. Cystic Fibrosis: Prenatal Screening and Diagnosis

    MedlinePlus

    ... Management Education & Events Advocacy For Patients About ACOG Cystic Fibrosis: Prenatal Screening and Diagnosis Home For Patients Search ... Screening and Diagnosis FAQ171, June 2017 PDF Format Cystic Fibrosis: Prenatal Screening and Diagnosis Pregnancy What is cystic ...

  19. Subclinical carotid atherosclerosis in elderly patients with primary Sjögren syndrome: a duplex Doppler sonographic study.

    PubMed

    Zardi, E M; Sambataro, G; Basta, F; Margiotta, D P E; Afeltra, A M V

    2014-01-01

    A growing body of evidence presents a link between chronic inflammatory rheumatic diseases and atherosclerosis. To evaluate subclinical carotid atherosclerosis in an elderly group of patients with primary Sjögren syndrome compared with a control group matched for age, sex, ethnicity and cardiovascular risk factors, we enrolled 18 patients with Primary Sjögren Syndrome (mean age 65 ± 5.93 SD) and 18 mild Ostheoarthritic patients (mean age 66 ± 5.94 SD) from the outpatient department of Rheumatology, University “Campus Bio-Medico, Rome, Italy, matched for age, sex, ethnicity and cardiovascular risk factors. A duplex Doppler sonographic study of carotids was performed in order to evaluate intima-media thickness (IMT), stiffness and haemodynamic parameters [resistivity and pulsatility indices (RI and PI, respectively)]. No significant difference was found between primary Sjögren syndrome and control patients in IMT, stiffness and haemodynamic parameters. The lack of significant difference in subclinical atherosclerosis between elderly primary Sjögren syndrome and control matched patients, indicates that traditional cardiovascular risk factors, immunologic alterations and chronic inflammation do not influence the progression of vascular damage in the carotid circulation of patients with median disease duration of 6.5 years.

  20. Prenatal diagnosis of congenital myopathies and muscular dystrophies.

    PubMed

    Massalska, D; Zimowski, J G; Bijok, J; Kucińska-Chahwan, A; Łusakowska, A; Jakiel, G; Roszkowski, T

    2016-09-01

    Congenital myopathies and muscular dystrophies constitute a genetically and phenotypically heterogeneous group of rare inherited diseases characterized by muscle weakness and atrophy, motor delay and respiratory insufficiency. To date, curative care is not available for these diseases, which may severely affect both life-span and quality of life. We discuss prenatal diagnosis and genetic counseling for families at risk, as well as diagnostic possibilities in sporadic cases. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  1. Sonography of cat scratch disease.

    PubMed

    Melville, David M; Jacobson, Jon A; Downie, Brian; Biermann, J Sybil; Kim, Sung Moon; Yablon, Corrie M

    2015-03-01

    To characterize the sonographic features of cat scratch disease and to identify features that allow differentiation from other causes of medial epitrochlear masses. After Institutional Review Board approval was obtained, patients who underwent sonography for a medial epitrochlear mass or lymph node were identified via the radiology information system. Patients were divided into 2 groups: cat scratch disease and non-cat scratch disease, based on pathologic results and clinical information. Sonograms were retrospectively reviewed and characterized with respect to dimension, shape (round, oval, or lobular), symmetry, location (subcutaneous or intramuscular), multiplicity, echogenicity (anechoic, hypoechoic, isoechoic, hyperechoic, or mixed), hyperechoic hilum (present or absent), adjacent anechoic or hypoechoic area, hyperemia (present or absent), pattern of hyperemia if present (central, peripheral, or mixed), increased posterior through-transmission (present or absent), and shadowing (present or absent). Sonographic findings were compared between the patients with and without cat scratch disease. The final patient group consisted of 5 cases of cat scratch disease and 16 cases of other causes of medial epitrochlear masses. The 2 sonographic findings that were significantly different between the cat scratch disease and non-cat scratch disease cases included mass asymmetry (P = .0062) and the presence of a hyperechoic hilum (P = .0075). The other sonographic findings showed no significant differences between the groups. The sonographic finding of an epitrochlear mass due to cat scratch disease most commonly is that of a hypoechoic lobular or oval mass with central hyperemia and a possible adjacent fluid collection; however, the presence of asymmetry and a hyperechoic hilum differentiate cat scratch disease from other etiologies. © 2015 by the American Institute of Ultrasound in Medicine.

  2. Multifocal metastatic chordoma to the soft tissues of the fingertips: a case report including sonographic features and a review of the literature.

    PubMed

    Smith, Zachary; Girard, Nicole; Hansford, Barry G

    2017-10-07

    Chordoma is a rare, locally aggressive tumor which commonly metastasizes, most often to the lung, liver, and spine. In this case report, a 59-year-old male with history of sacral chordoma and pulmonary metastases presented to the emergency department with swelling and discoloration of multiple left fingertips. The initial radiographs led to a presumptive diagnosis of gout, which did not respond to medical therapy. An ultrasound demonstrated multiple solid masses with vascular hyperechoic septations which were subsequently biopsied and proven to be metastatic chordoma. Metastatic disease to the hand is a well documented but rare manifestation of many malignancies. The clinical presentation and radiographic features of multifocal hand metastases may mimic entities such as systemic deposition and granulomatous diseases. To the best of our knowledge, this is the first case report of soft tissue chordoma metastases to the fingertips as well as the first reported sonographic description of chordoma metastases.

  3. Update on prenatal care.

    PubMed

    Zolotor, Adam J; Carlough, Martha C

    2014-02-01

    Many elements of routine prenatal care are based on tradition and lack a firm evidence base; however, some elements are supported by more rigorous studies. Correct dating of the pregnancy is critical to prevent unnecessary inductions and to allow for accurate treatment of preterm labor. Physicians should recommend folic acid supplementation to all women as early as possible, preferably before conception, to reduce the risk of neural tube defects. Administration of Rho(D) immune globulin markedly decreases the risk of alloimmunization in an RhD-negative woman carrying an RhD-positive fetus. Screening and treatment for iron deficiency anemia can reduce the risks of preterm labor, intrauterine growth retardation, and perinatal depression. Testing for aneuploidy and neural tube defects should be offered to all pregnant women with a discussion of the risks and benefits. Specific genetic testing should be based on the family histories of the patient and her partner. Physicians should recommend that pregnant women receive a vaccination for influenza, be screened for asymptomatic bacteriuria, and be tested for sexually transmitted infections. Testing for group B streptococcus should be performed between 35 and 37 weeks' gestation. If test results are positive or the patient has a history of group B streptococcus bacteriuria during pregnancy, intrapartum antibiotic prophylaxis should be administered to reduce the risk of infection in the infant. Intramuscular or vaginal progesterone should be considered in women with a history of spontaneous preterm labor, preterm premature rupture of membranes, or shortened cervical length (less than 2.5 cm). Screening for diabetes should be offered using a universal or a risk-based approach. Women at risk of preeclampsia should be offered low-dose aspirin prophylaxis, as well as calcium supplementation if dietary calcium intake is low. Induction of labor may be considered between 41 and 42 weeks' gestation.

  4. Hemifacial microsomia with spinal and rib anomalies: prenatal diagnosis and postmortem confirmation using 3-D computed tomography reconstruction.

    PubMed

    Haratz, Karina; Vinkler, Chana; Lev, Dorit; Schreiber, Letizia; Malinger, Gustavo

    2011-01-01

    Hemifacial microsomia (OMIM164210) is a condition featuring unilateral ear anomalies and ocular epibulbar dermoids associated with unilateral underdevelopment of the craniofacial bony structures. Other associated anomalies have also been described, especially spinal malformations, and the term oculoauriculovertebral dysplasia spectrum (OVAS) was suggested to include the three predominant systems involved. Both genetic and environmental causes are implied in the pathogenesis of the syndrome, with a 3% recurrence rate according to reports of both vertical transmission and affected siblings. No specific gene was identified, albeit mutations in chromosome 10 and deficiencies of genes in the endothelin pathway in mice exhibited the same clinical features. We hereby describe the first case of prenatal diagnosis of spinal and rib malformations associated to hemifacial microsomia by means of 2-D and 3-D ultrasound in a 23-week fetus. The sonographic study depicted fetal scoliosis due to the presence of hemivertebrae, Sprengel's deformity of the left shoulder, ribs fusion, asymmetric ears with unilateral microtia, mandible unilateral hypoplasia as well as single umbilical artery and a 'golf ball' sign in the left ventricle of the heart. The diagnosis of OVAS was suggested and the family received proper genetic consultation. After termination of the pregnancy, the syndrome was confirmed by postmortem 3-D computed tomography study. In view of the grim outcome, prenatal death rate and high mortality and morbidity when three or more systems are involved, prenatal diagnosis and appropriate counseling are warranted.

  5. Prenatal diagnosis of persistent cloaca.

    PubMed

    Suzumori, Nobuhiro; Obayashi, Shintaro; Hattori, Yukio; Kaneko, Saori; Suzuki, Yoshikatsu; Sugiura-Ogasawara, Mayumi

    2009-09-01

    We report four cases of persistent cloaca diagnosed at 32-33 weeks of gestation. In cases of persistent cloaca, serial prenatal ultrasonography shows transient fetal ascites, enlarged cystic structures arising from the fetal pelvis. Our four cases of persistent cloaca were diagnosed prenatally. Persistent cloaca should be considered in any female fetus presenting with hydronephrosis and a large cystic lesion arising from the pelvis as assessed by ultrasound and magnetic resonance imaging. Neither pulmonary hypoplasia nor severe oligohydramnios were found in any of our four cases, and they each had a good prognosis. Prenatal diagnosis allows time for parental counseling and delivery planning at a tertiary care center for neonatal intensive care and pediatric surgery.

  6. [Communication skills for prenatal counselling].

    PubMed

    Bitzer, J; Tschudin, S; Holzgreve, W; Tercanli, S

    2007-04-18

    Prenatal counselling is characterized by specific characteristics: A):The communication is about the values of the pregnant woman and her relationship with the child to be. B) The communication deals with patient's images and emotions. C) It is a communication about risks, numbers and statistics. D) Physician and patient deal with important ethical issues. In this specific setting of prenatal diagnosis and care physicians should therefore learn to apply basic principles of patient-centred communication with elements of non directive counselling, patient education and shared decision making. These elements are integrated into a process which comprises the following "steps": 1. Clarification of the patient's objectives and the obstetrician's mandate. 2. The providing of individualized information and education about prenatal tests and investigations. 3. Shared decision making regarding tests and investigations 4. Eventually Breaking (bad, ambivalent) news. 5. Caring for patients with an affected child.

  7. The sonographic appearance and detectability of nonopaque and semiopaque materials of military origin.

    PubMed

    Harcke, H Theodore; Levy, Angela D; Lonergan, Gael J

    2002-06-01

    The objective of our study was to characterize the sonographic appearance and detectability of nonopaque and semiopaque materials of military origin in soft tissue. Representative materials were obtained from combat boots used in land mine tests and from military-issue clothing and equipment. Sixty fragments from 3 to 30 mm were embedded in an in vitro tissue model (thawed turkey breasts). Real-time ultrasonography was used to search for the fragments and to characterize their sonographic qualities (surface echoes, acoustic shadowing) when visible. Fifty-eight fragments were identified successfully. Two 5-mm fragments in the group of smallest size were missed. All types of material tested were visible. Nonopaque fragments of military origin should be detectable by sonography when present as foreign bodies in soft tissue. This represents a potential application for sonography in military hospitals.

  8. Sonographic quantification of endometrial changes after abortion with computer-assisted image analysis.

    PubMed

    Chou, Szu-Yuan; Chen, Chih-Yen; Hsu, Ming-I; Chow, Pui-Ki; Hsu, Chun-Sen; Chiang, Huihua Kenny

    2010-03-01

    To examine the diagnostic feasibility of sonographic gray scale histograms to assess changes in the endometrium following abortion induced by mifepristone and misoprostol. Retrospective study. Taipei Medical University-Wan Fang academic medical center. A total of 109 patients who matched eligibility criteria were divided into three groups: (a) complete abortion, (b) normal menstrual cycles, and (c) incomplete abortion. Ultrasonographic examination of the uterus with fixed settings on each patient and sonographic gray scale histograms with image analysis software, using multivariate analysis by the partial least square model. Thickness, brightness, area and distribution of pixels of the endometrium and its contents. The groups could be discriminated (p < 0.01, Kruskal-Wallis test) using the analyzed gray scale histograms. The classification between complete and incomplete abortion reached 97% sensitivity and 100% specificity. Partial least square analysis of gray scale histograms of the endometrium in ultrasonographic images is useful in assessing endometrial changes.

  9. Clinical and Sonographic Evaluation of a Lower Extremity Angioleiomyoma in a 52-Year-Old Woman.

    PubMed

    Mattox, Ross; Welk, Aaron B; Jokerst, Aimee; Van Kirk, Brooke; Kettner, Norman W

    2016-06-01

    The purpose of this case study is to describe the role of sonographic examination in the initial evaluation of an angioleiomyoma and to discuss the characteristic findings associated with this soft tissue mass. A 52-year-old woman presented with a large, tender, erythematous mass on the anterolateral aspect of her right knee. Sonographic examination revealed a highly vascular mass within the subcutaneous tissues. Differential considerations included benign soft tissues masses such as angioleiomyoma and hemangioma. Surgical consultation was recommended. Excisional biopsy was performed. Histopathological examination confirmed the diagnosis of angioleiomyoma. Although ultrasonographic findings of a superficial soft tissue mass may be nonspecific, when a highly vascular, well-defined, slow-growing mass is present, angioleiomyoma should be included in the differential diagnosis.

  10. Prenatal ultrasonographic assessment of the ductus arteriosus: a review.

    PubMed

    Sherer, D M; Divon, M Y

    1996-04-01

    To review current data pertaining to prenatal ultrasonography of the ductus arteriosus. We reviewed manuscripts published in the English language regarding prenatal ultrasonography and the fetal ductus arteriosus obtained from a MEDLINE search for 1966 onward. Additional sources were identified through cross-referencing. Data regarding morphology, physiology, pathophysiology of fetal disease, and hemodynamic changes after administration of various maternal medications and structural congenital anomalies of the ductus arteriosus were selected. Knowledge of the function of the ductus arteriosus in both normal and abnormal fetal conditions is enhanced by prenatal ultrasonographic findings. Detailed analyses of ductus arteriosus hemodynamics are indicated in well-defined medical conditions, including maternal medication and established structural or functional fetal cardiac disease. The fetal ductus arteriosus is a vascular structure of major functional importance. Knowledge of physiologic hemodynamic changes of blood flow in this vessel obtained by prenatal ultrasonography in conjunction with increasing gestational age, maternal medication, fetal growth restriction, as well as the detection of structural anomalies, may assist in clinical management of complicated pregnancies.

  11. Comparative Study of Clinical and Sonographic Estimation of Foetal Weight at Term.

    PubMed

    Bakshi, L; Begum, H A; Khan, I; Dey, S K; Bhattacharjee, M; Bakshi, M K; Dey, S; Habib, A; Barman, K K

    2015-07-01

    A cross sectional comparative study was conducted at Dhaka National Medical College, Dhaka from January to June 2012, to observe the accuracy of clinical and ultrasonographic estimation of foetal weight at term in our environment. Seventy five pregnant women who fulfilled the inclusion criteria had their foetal weight estimated independently using clinical and ultrasonographic methods. Accuracy was determined by percentage error, absolute percentage error and proportion of estimates within 10% of actual birth weight (birth weight fetus of +10%). Statistical analysis was done using the paired t-test, the Wilcoxon signed-rank test, and the chi-square test. The study sample had an actual average birth weight of 2989.60 ± 408.76 (range 2310-4000 gm). Overall, the clinical method overestimated birth-weight, while ultrasound underestimated it. The mean absolute percentage error of the clinical method was more than that of the sonographic method, and the number of estimates within 10% of actual birth weight for the clinical method (41.3%) was less than for the sonographic method (57.3%); the difference was not statistically significant. In the low birth-weight (<2,500 gm) group, the mean absolute percentage error of sonographic estimates were significantly smaller. Significantly more sonographic estimates (75%) were within 10% of actual birth-weight than those of the clinical method (0%). No statistically significant difference was observed in all the measures of accuracy for the normal birth-weight range of 2,500-<4,000 gm and in the macrosomic group (≥ 4,000 gm). Clinical estimation of birth-weight is as accurate as routine ultrasonographic estimation, except in low-birth-weight babies.

  12. Sonographic diagnosis of a subclinical wandering spleen: role of the decubitus position.

    PubMed

    Chen, Jhih-Wei; Yeh, Da-Ming; Peng, Shu-Hui; Chen, Gwo-Shen; Tseng, Yi-Hsun; Lin, Ching-Wen; Tyan, Yeu-Sheng; Tsao, Teng-Fu

    2012-03-01

    A wandering spleen is a rare condition. It is usually diagnosed when abdominal pain develops secondary to splenic torsion. Although splenic hypermobility is the pathognomonic feature of a wandering spleen, it is rarely revealed by imaging in the subclinical stage. We report 3 patients with a subclinical wandering spleen who had incidental sonographic findings of splenomegaly. Gray scale and color Doppler sonography in the right decubitus position can easily show the migratory nature and perfusion status of a wandering spleen in real time.

  13. Sonographic features of medullary thyroid carcinomas according to tumor size: comparison with papillary thyroid carcinomas.

    PubMed

    Zhou, Liguang; Chen, Bo; Zhao, Miaoqing; Zhang, Huawei; Liang, Bo

    2015-06-01

    The aim of this study was to evaluate the differences in sonographic features of medullary thyroid carcinomas according to nodule size and compared with findings for papillary thyroid carcinomas. This study included 38 medullary thyroid carcinoma nodules and 91 papillary thyroid carcinoma nodules, which were confirmed by pathologic examination between May 2008 and September 2013. Nodules were divided into those that were greater than 10 mm (large nodules) and 10 mm or less (small nodules). The differences in sonographic features (composition, echogenicity, margin, calcifications, and shape) between groups were analyzed with a χ(2) test. Large medullary thyroid carcinomas more frequently showed an ovoid-to-round shape and a smooth margin; small medullary thyroid carcinomas more frequently showed a taller-than-wide shape and a spiculated margin; the differences were statistically significant between the groups (P < .05). Compared with papillary thyroid carcinomas, large medullary thyroid carcinomas tended to have an ovoid-to-round shape, a smooth margin, and macrocalcifications and were more frequently diagnosed as indeterminate nodules (P < .05); however, there were no significant differences in the internal composition, calcifications, echogenicity, margin, and shape between small medullary thyroid carcinomas and small papillary thyroid carcinomas (P > .05). Our data indicate that the sonographic features of medullary thyroid carcinomas are associated with tumor size; furthermore, the sonographic features of medullary thyroid carcinomas are similar to those of small papillary thyroid carcinomas but greatly different from those of large papillary thyroid carcinomas. Large medullary thyroid carcinomas are more commonly diagnosed as indeterminate nodules by sonography than large papillary thyroid carcinomas, and fine-needle aspiration biopsy or serum calcitonin measurement may be helpful. © 2015 by the American Institute of Ultrasound in Medicine.

  14. Does sonographic needle guidance affect the clinical outcome of intraarticular injections?

    PubMed

    Sibbitt, Wilmer L; Peisajovich, Andres; Michael, Adrian A; Park, Kye S; Sibbitt, Randy R; Band, Philip A; Bankhurst, Arthur D

    2009-09-01

    This randomized controlled study addressed whether sonographic needle guidance affected clinical outcomes of intraarticular (IA) joint injections. In total, 148 painful joints were randomized to IA triamcinolone acetonide injection by conventional palpation-guided anatomic injection or sonographic image-guided injection enhanced with a one-handed control syringe (the reciprocating device). A one-needle, 2-syringe technique was used, where the first syringe was used to introduce the needle, aspirate any effusion, and anesthetize and dilate the IA space with lidocaine. After IA placement and synovial space dilation were confirmed, a syringe exchange was performed, and corticosteroid was injected with the second syringe through the indwelling IA needle. Baseline pain, procedural pain, pain at outcome (2 weeks), and changes in pain scores were measured with a 0-10 cm visual analog pain scale (VAS). Relative to conventional palpation-guided methods, sonographic guidance resulted in 43.0% reduction in procedural pain (p < 0.001), 58.5% reduction in absolute pain scores at the 2 week outcome (p < 0.001), 75% reduction in significant pain (VAS pain score > or = 5 cm; p < 0.001), 25.6% increase in the responder rate (reduction in VAS score > or = 50% from baseline; p < 0.01), and 62.0% reduction in the nonresponder rate (reduction in VAS score < 50% from baseline; p < 0.01). Sonography also increased detection of effusion by 200% and volume of aspirated fluid by 337%. Sonographic needle guidance significantly improves the performance and outcomes of outpatient IA injections in a clinically significant manner.

  15. Outcomes and cost-effectiveness of carpal tunnel injections using sonographic needle guidance.

    PubMed

    Makhlouf, Tony; Emil, N Suzanne; Sibbitt, Wilmer L; Fields, Roderick A; Bankhurst, Arthur D

    2014-06-01

    This randomized controlled study addressed whether sonographic needle guidance affected the outcomes of corticosteroid injection for symptomatic carpal tunnel syndrome. Seventy-seven symptomatic carpal tunnels were randomized to injection by either (1) conventional anatomic landmark palpation-guided injection or (2) sonographic image-guided injection, each using a two-step technique where 3 ml of 1% lidocaine was first injected to hydrodissect and hydrodisplace critical intra-carpal tunnel structures followed by injection with 80 mg of triamcinolone acetonide (2 ml). Baseline pain, procedural pain, pain at outcome (2 weeks and 6 months), responders, therapeutic duration, total cost, and cost per responder were determined. There were no complications in either treatment group. Relative to conventional anatomic landmark palpation-guided methods, sonographic guidance for injection of the carpal tunnel resulted in 77.1% reduction in injection pain (p<0.01), a 63.3% reduction in pain scores at outcome (p<0.014), 93.5% increase in the responder rate (p<0.001), 84.6% reduction in the non-responder rate (p<0.001), a 71.0% increase in therapeutic duration (p<0.001), and a 59.3% ($150) reduction in cost/responder/year for a hospital outpatient (p<0.001). However, despite improved outcomes, cost per patient per year was significantly increased for an outpatient in a physician's office and was neutral for a hospital outpatient. Sonographic needle guidance significantly improves the performance and clinical outcomes of injection of the carpal tunnel and is cost-effective for a hospital-based practice, but based on current reimbursements, it significantly increases overall costs for medical care delivered in a non-hospital-based physician practice.

  16. Sonographic Parameters for Prediction of Miscarriage: Role of 3-Dimensional Volume Measurement.

    PubMed

    Wie, Jeong Ha; Choe, Suyearn; Kim, Sa Jin; Shin, Jong Chul; Kwon, Ji Young; Park, In Yang

    2015-10-01

    To evaluate the value of volume measurement using 3-dimensional sonography for prediction of miscarriage. We prospectively enrolled 188 singleton pregnant women at 5 to 9 weeks' gestation. The 3-dimensional sonographic gestational sac volume and yolk sac volume were measured together with the fetal heart rate, gestational sac diameter, and yolk sac diameter. For each sonographic parameter, nomograms were created; z scores were calculated for each measurement, and the values were compared between miscarriage and ongoing pregnancy groups. Sonographic parameters for prediction of miscarriage were evaluated by multivariate analysis, and the screening performance was assessed by a receiver operating characteristic curve. Among the 188 pregnancies, 30 (16.0%) had miscarriage. Multivariate analysis showed that fetal heart rate below the 5th percentile (odds ratio, 6.43), gestational sac diameter below the 5th percentile (odds ratio, 4.87), gestational sac volume below the 5th percentile (odds ratio, 5.25), and yolk sac diameter below the 2.5th or above the 97.5th percentile (odds ratio, 15.86) were significant predictors of miscarriage (P = .018; P = .018; P = .033; and P < .001, respectively). At a false-positive rate of 30%, the detection rate for miscarriage in screening by a combination of fetal heart rate, gestational sac diameter, gestational sac volume, and yolk sac diameter was 77.8%. A small-for-gestational-age gestational sac volume is a significant sonographic predictor of miscarriage, as are fetal bradycardia, a small gestational sac diameter, and a small or large yolk sac diameter. © 2015 by the American Institute of Ultrasound in Medicine.

  17. [Sonographic diagnosis of a case of type 1 achondrogenesis in the 2d trimester].

    PubMed

    Schramm, T; Nerlich, A

    1989-10-01

    The authors report on a prenatal ultrasonic diagnosis of lethal osteochondrodysplasia achondrogenesis type I (Parenti-Fraccaro) in the 17th week of pregnancy. The prenatal findings were confirmed by necropsy after termination of the pregnancy. The possibility to recognize lethal skeletal disorders early in pregnancy is discussed as well as the patho-anatomical criteria and possible patho-physiological mechanisms of achondrogenesis.

  18. Prenatal and Postnatal Survival of Fetal Tetralogy of Fallot: A Meta-analysis of Perinatal Outcomes and Associated Genetic Disorders.

    PubMed

    Zhao, Yili; Abuhamad, Alfred; Fleenor, Jonathan; Guo, Yajun; Zhang, Wangshu; Cao, Danming; Zeng, Shi; Sinkovskaya, Elena; Zhou, Qichang

    2016-05-01

    The aim of this systematic review was to compare the postnatal outcomes, genetic testing results, and sonographic findings in 3 subtypes of tetralogy of Fallot. Thirty-six articles from the MEDLINE and EMBASE databases were selected for this review. The postnatal outcomes, karyotyping results, and sonographic findings of fetal tetralogy of Fallot with pulmonary stenosis, tetralogy of Fallot with pulmonary atresia, and tetralogy of Fallot with an absent pulmonary valve were collected and compared. The survival rates (termination of pregnancy was considered fetal death) for prenatally diagnosed tetralogy of Fallot with pulmonary atresia and tetralogy of Fallot with an absent pulmonary valve at the end of neonatal period were significantly lower than the rate for tetralogy of Fallot with pulmonary stenosis (P < .05). The survival rate for tetralogy of Fallot with pulmonary atresia was also lower at birth (P < .001). Major chromosomal anomalies were more frequently detected in tetralogy of Fallot with pulmonary stenosis (P< .05); conversely, 22q11 deletion was present more often in fetuses with tetralogy of Fallot with pulmonary atresia and tetralogy of Fallot with an absent pulmonary valve (P < .001). Compared to tetralogy of Fallot with pulmonary stenosis, a right aortic arch was more associated with tetralogy of Fallot with pulmonary atresia (32.6%; P < .05), and the ductus arteriosus was almost always absent in tetralogy of Fallot with an absent pulmonary valve (87.5%; P < .001). The postnatal outcomes, genetic testing results, and sonographic findings are different among subtypes of tetralogy of Fallot. Documenting those details at diagnosis can help specialists better counsel their patients. © 2016 by the American Institute of Ultrasound in Medicine.

  19. [Prenatal diagnosis using chorionic villi].

    PubMed

    Vega Hernández, M E; Hicks, J J; González-Angulo, J

    1991-07-01

    Chorionic villus sampling (CVS) has a promising future about early detection of fetal abnormalities. It has the potential to become a major tool in the prenatal diagnosis and therapy of genetic disorders. Villus samples can be analyzed by means of cytogenetic, biochemical or molecular technics. Information available at present indicates fetal loss rate should be in the same proportion than amniocentesis. CVS appears to be a reasonably safe and reliable method of prenatal diagnosis in the first trimester of pregnancy. This procedure is setting as fast as it is possible like an excellent alternative to amniocentesis.

  20. Prenatal prediction of pulmonary hypoplasia.

    PubMed

    Triebwasser, Jourdan E; Treadwell, Marjorie C

    2017-03-15

    Pulmonary hypoplasia, although rare, is associated with significant neonatal morbidity and mortality. Conditions associated with pulmonary hypoplasia include those which limit normal thoracic capacity or movement, including skeletal dysplasias and abdominal wall defects; those with mass effect, including congenital diaphragmatic hernia and pleural effusions; and those with decreased amniotic fluid, including preterm, premature rupture of membranes, and genitourinary anomalies. The ability to predict severe pulmonary hypoplasia prenatally aids in family counseling, as well as obstetric and neonatal management. The objective of this review is to outline the imaging techniques that are widely used prenatally to assess pulmonary hypoplasia and to discuss the limitations of these methods.

  1. Comparative sonographic evaluation of the anteroposterior dimensions of the pancreas in diabetics and nondiabetics.

    PubMed

    Agabi, J O; Akhigbe, A O

    2016-01-01

    The pancreas is an insulin-producing gland and is prone to varying degrees of destruction and change in patients with diabetes mellitus (DM). Various morphological changes including reduction in the pancreas dimensions have been described in DM. To determine pancreatic anteroposterior (AP) dimensions in diabetics by sonography and compare with nondiabetics. To also evaluate the correlation of the AP dimensions with patient's anthropometry, as well as the duration of the disease in comparison with nondiabetics. This is a comparative cross-sectional study involving 150 diabetics with 150 sex and age matched healthy normoglycemic group used as controls. Sonographic measurements of the AP dimensions of the pancreatic head, body, and tail of both study groups were performed with the use of 3.5 MHz curvilinear array transducer of a SonoAce X4 ultrasound machine. Data were analyzed using Statistical Package for Social Sciences version 17 (SPSS Inc., Chicago, IL, USA). A statistical test was considered significant at P ≤ 0.05 and 95% confidence interval. Pancreas AP dimensions were significantly smaller in diabetics compared to those of the controls. The mean dimensions were 1.91 ± 0.26 cm, 0.95 ± 0.12 cm, and 0.91 ± 0.11 cm for the head, body, and tail, respectively, in diabetics and 2.32 ± 0.22 cm, 1.43 ± 0.19 cm, and 1.34 ± 0.20 cm in the control (P < 0.001 in all cases). The dimensions were also significantly smaller in the Type 1 diabetics compared to Type 2 (P < 0.001 in all cases). The mean duration of illness for the Types 1 and 2 diabetics were 3.09 ± 1.38 and 3.78 ± 3.12 years, respectively. Longer duration of illness was associated with smaller pancreas body and tail dimensions, while pancreas head dimension was not significantly affected by the duration of illness. Diabetics have smaller pancreas AP dimensions compared to the normal population.

  2. Influence of prenatal stress on behavioral, endocrine, and cytokine responses to adulthood bacterial endotoxin exposure.

    PubMed

    Kohman, Rachel A; Tarr, Andrew J; Day, Cameron E; McLinden, Kristina A; Boehm, Gary W

    2008-11-21

    Prior research suggests that prenatal stress, among other effects, can lead to hyper-reactivity of the offspring's hypothalamic-pituitary-adrenal (HPA) axis and alterations in immune function. These stress-induced changes have been linked to a greater propensity to develop depression or anxiety disorders. Furthermore, prenatally stressed offspring may be more susceptible to certain diseases. The immune alterations induced by prenatal stress exposure may disrupt the normal communication between the immune system, endocrine system, and central nervous system, potentially making prenatally stressed individuals more vulnerable to the negative aspects of immune activation, including cytokine-induced cognitive deficits and anxiety. The present study investigated whether prenatal stress would exaggerate these detrimental effects of peripheral immune activation. We hypothesized that prenatally stressed subjects would be hypersensitive to endotoxin administration and would therefore show exaggerated learning deficits, increased anxiety-like behavior, and increased peripheral and central interleukin-1beta (IL-1beta) levels. The observed results only partially supported our hypotheses, as prenatally stressed subjects showed evidence, albeit modest, of increased anxiety-like behavior following endotoxin administration relative to non-stressed controls. While prenatal stress exposure or lipopolysaccharide (LPS) administration independently impaired learning, the data failed to support the hypothesis that prenatally stressed subjects would show exaggerated cognitive deficits, engendered via enhanced peripheral and central IL-1beta levels, following immune activation. Collectively, the data suggest that although prenatal stress exposure led to increases in anxiety-like behavior following endotoxin exposure, it did not appear to increase susceptibility to LPS-induced cognitive decline or elevations in proinflammatory cytokine production.

  3. Real-time video streaming of sonographic clips using domestic internet networks and free videoconferencing software.

    PubMed

    Liteplo, Andrew S; Noble, Vicki E; Attwood, Ben H C

    2011-11-01

    As the use of point-of-care sonography spreads, so too does the need for remote expert over-reading via telesonogrpahy. We sought to assess the feasibility of using familiar, widespread, and cost-effective existent technology to allow remote over-reading of sonograms in real time and to compare 4 different methods of transmission and communication for both the feasibility of transmission and image quality. Sonographic video clips were transmitted using 2 different connections (WiFi and 3G) and via 2 different videoconferencing modalities (iChat [Apple Inc, Cupertino, CA] and Skype [Skype Software Sàrl, Luxembourg]), for a total of 4 different permutations. The clips were received at a remote location and recorded and then scored by expert reviewers for image quality, resolution, and detail. Wireless transmission of sonographic clips was feasible in all cases when WiFi was used and when Skype was used over a 3G connection. Images transmitted via a WiFi connection were statistically superior to those transmitted via 3G in all parameters of quality (average P = .031), and those sent by iChat were superior to those sent by Skype but not statistically so (average P = .057). Wireless transmission of sonographic video clips using inexpensive hardware, free videoconferencing software, and domestic Internet networks is feasible with retention of image quality sufficient for interpretation. WiFi transmission results in greater image quality than transmission by a 3G network.

  4. Predicting student performance in sonographic scanning using spatial ability as an ability determinent of skill acquisition

    NASA Astrophysics Data System (ADS)

    Clem, Douglas Wayne

    Spatial ability refers to an individual's capacity to visualize and mentally manipulate three dimensional objects. Since sonographers manually manipulate 2D and 3D sonographic images to generate multi-viewed, logical, sequential renderings of an anatomical structure, it can be assumed that spatial ability is central to the perception and interpretation of these medical images. Using Ackerman's theory of ability determinants of skilled performance as a conceptual framework, this study explored the relationship of spatial ability and learning sonographic scanning. Beginning first year sonography students from four different educational institutions were administered a spatial abilities test prior to their initial scanning lab coursework. The students' spatial test scores were compared with their scanning competency performance scores. A significant relationship between the students' spatial ability scores and their scanning performance scores was found. This result suggests that the use of spatial ability tests for admission to sonography programs may improve candidate selection, as well as assist programs in adjusting instruction and curriculum for students who demonstrate low spatial ability.

  5. Sonographic Findings of Chondral Avulsion Fractures of the Lateral Ankle Ligaments in Children.

    PubMed

    Maeda, Manabu; Maeda, Nana; Takaoka, Takanori; Tanaka, Yasuhito

    2017-02-01

    In this series, we aimed to describe the sonographic findings of chondral avulsion fractures that develop concomitant with lateral ankle ligament injury in children. We performed stress sonography during a manual anterior drawer stress procedure of the ankle in 9 skeletally immature patients who had recently had a lateral ankle sprain. Echo videos were obtained through the course of treatment, and all videos were reviewed. We elucidated the common features of chondral avulsion fractures of the lateral ankle ligaments in the children. The features of avulsion fractures on conventional sonography included absence of a fracture with hyperechoic spots (sonographic occult fracture type), cortical discontinuity with hyperechoic spots (cortical disruption fracture type), fracture line in the cortical bone (double-line fracture type), and a step-off deformity of the cortical bone with cartilage (displaced fracture type). In contrast, the features of chondral fractures on stress sonography included abnormal motion of the chondral lesions and mobility/fluidity of hyperechoic spots along the chondral fracture site. The presence of hyperechoic spots around the chondral lesion is an important sonographic sign for diagnosing chondral fractures concomitant with ankle lateral ligament injury. Hence, we believe that stress sonography should be considered for the detection of chondral fractures concomitant with radiographically negative ankle lateral ligament injuries in skeletally immature patients with lateral ankle pain and ankle sprains, if hyperechoic spots are present in the cartilage of the distal fibula. © 2017 by the American Institute of Ultrasound in Medicine.

  6. Sonographic Evaluation of Structural Changes in Post-Stroke Hemiplegic Shoulders

    PubMed Central

    Idowu, Bukunmi Michael; Ayoola, Oluwagbemiga Oluwole; Adetiloye, Victor Adebayo; Komolafe, Morenikeji Adeyoyin

    2017-01-01

    Summary Background Stroke and hemiplegia are frequent complications of stroke. This study was performed to sonographically evaluate post-stroke hemiplegic shoulders and explore possible relationship(s) between the sonographic findings and clinical indices. Material/Methods Forty-five stroke patients and 45 age- and sex-matched controls were recruited. Standard sonographic examination of both shoulders was performed to assess for joint subluxation, rotator cuff tears, tendinosis, subacromial-subdeltoid bursitis or effusion and adhesive capsulitis. Results Hemiplegic shoulders exhibited significantly higher number of pathologies compared to the unaffected shoulders and shoulders of controls (p=0.000). One or more structural abnormalities were found in all 45 (100%) hemiplegic shoulders, 25 (55.6%) unaffected shoulders of the stroke subjects, and 39 (43.3%) control shoulders. The most frequent pathologies in the hemiplegic shoulders were the following: tendinosis of the long head of bicep tendon (48.9%), inferior shoulder subluxation (44.4%), co-existing subacromial-subdeltoid bursa/long head of bicep tendon sheath effusion (44.4%), and long head of bicep tendon sheath effusion only (40%). Tendinosis of the long head of bicep tendon was commoner in hemiplegic shoulders with poor motor status than those with good motor status. Conclusions Hemiplegic shoulders have significantly higher number of structural abnormalities than unaffected shoulders and the shoulders of controls. Hemiplegic stroke patients should undergo ultrasonography of the hemiplegic shoulder to define the nature and extent of soft tissue injuries prior to physical therapy. PMID:28382186

  7. Preferences of air-blood-saline sonographic microbubble contrast agents among emergency medicine resident physicians.

    PubMed

    Doctor, Michael; Siadecki, Sebastian D; Rose, Gabriel; Berkowitz, Rachel; Matilsky, Danielle; Saul, Turandot

    2015-10-01

    The placement of a central venous catheter (CVC) remains an important intervention in the care of critically ill patients in the emergency department, and bedside ultrasound can be used for procedural guidance as well as conformation of placement. Microbubble contrast-enhanced ultrasound may facilitate CVC tip position localization, and the addition of autologous blood can significantly increase its echogenicity. The purpose of this study was to describe the preferences of a group of resident physicians regarding the performance of various concentrations of air-blood-saline sonographic microbubble contrast agents. Institutional Animal Care and Use Committee approved prospective study. A CVC was inserted into the right internal jugular vein of a 20-kg Yorkshire swine under general anesthesia. Contrast mixtures were created with air, saline, and varying amounts of blood and were injected while echocardiographic video clips were recorded and reviewed by 25 physician sonographers. All reading physicians reported increased overall echogenicity, a higher peak echogenicity, and greater personal preference for blood containing solutions. Nearly all reading physicians preferred the lower percentage blood containing mixtures over the higher percentage blood containing mixture. The inclusion of 1 to 3 parts of 10 of the patient's blood in the preparation of a sonographic contrast mixture increased the echogenicity of the contrast, resulted in better visualization of both the contrast and the endocardial border and was the preferred mixture among the resident physicians studied. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. Sonographic Biometry of Fetal Interorbital Distance as a Predictor of Gestational Age in Enugu, Southeast Nigeria.

    PubMed

    Nwadike, U I; Agwu, K K; Eze, C U; Okpala, O C; Onu, A O

    2015-05-13

    The objective of this study was to develop a sonographic technique for the measurement of fetal interorbital distance (IOD) for gestational age (GA) determination and to establish a normogram of IOD for the local population. The fronto-transverse sonographic technique was established as a feasible and reproducible technique for IOD measurement. Two independent and experienced sonographers tested the technique and had a coefficient of variation of 17.64% and 19.72%, respectively, which is statistically insignificant. The established technique was used to measure the IOD of 320 fetuses from the 13(th) week to 40(th) week GA, while standard technique was used to measure biparietal diameter (BPD), head circumference (HC) and femur length (FL) of the fetuses. The data obtained were used to determine the regression equation GA = 6.24 + 4.89 IOD for the prediction of the gestational age. There was good correlation between IOD, BPD, HC and FL. The predicted normogram of IOD was compared with normogram of the Caucasian population. The result showed that there was no statistical difference between them (p < 0.05). Results from the study suggest that the fronto-transverse technique is a feasible and reproducible technique for IOD measurement and the established normogram of IOD can be a veritable statistic for GA prediction in our locality.

  9. Risk factors associated with failed sonographically guided saline hydrostatic intussusception reduction in children.

    PubMed

    He, Nianan; Zhang, Shenglong; Ye, Xianjun; Zhu, Xiaoqian; Zhao, Zhihong; Sui, Xiufang

    2014-09-01

    The aim of this study was to explore the risk factors associated with failed sonographically guided saline hydrostatic intussusception reduction in children. We retrospectively reviewed the medical records and sonograms of 288 cases of intussusception over a 3-year period. Logistic regression was used for the analysis of the clinical data (sex, age, duration of symptoms, and presence or absence of emesis or bloody stool) and sonographic features (initial location and intussusception length, presence or absence of free peritoneal fluid, and trapped fluid in the intussusception). The sex, age, and duration of symptoms showed no significant impact on the hydrostatic reducibility. The success rate became significantly lower for the intussusception cases with the presence of bloody stool, free peritoneal fluid, and trapped fluid in the intussusception (P < .05). The success rate was also lower when the intussusceptions were located in the left side of the abdomen (P < .05). For the above risk factors, the odds ratios from multivariate logistic regression analysis were 174.68 for initial intussusception location in the descending colon/rectum, 36.06 for the presence of peritoneal fluid, 13.22 for trapped fluid in the intussusception, and 9.27 for the presence of bloody stool. An initial intussusception location in the descending colon/rectum, the presence of peritoneal fluid, trapped fluid in the intussusception, and bloody stool are the most important risk factors for failure of sonographically guided saline hydrostatic intussusception reduction. © 2014 by the American Institute of Ultrasound in Medicine.

  10. Sonographic analyses of pulley and flexor tendon in idiopathic trigger finger with interphalangeal joint contracture.

    PubMed

    Sato, Junko; Ishii, Yoshinori; Noguchi, Hideo; Takeda, Mitsuhiro

    2014-06-01

    This study investigated the sonographic appearance of the pulley and flexor tendon in idiopathic trigger finger in correlation with the contracture of the interphalangeal (IP) joint in the thumb or proximal IP (PIP) joint in the other digits. Sonographic measurements using axial images were performed in 177 affected digits including 17 thumbs and 34 other digits judged to have IP or PIP joint contracture and 77 contralateral control digits. The A1 pulley of the contracture group was significantly thicker than that of the non-contracture group in all digits, whereas the flexor tendon was thicker only in digits other than the thumb. In the analysis using calculated cut-off values, A1 pulley thickening in the thumb and A1 pulley and flexor tendon thickening in the other digits showed statistically significant correlations with IP or PIP joint contracture. This study sonographically confirmed previous reports showing that enlargement of the flexor tendons contribute to the pathogenesis of PIP joint contracture. Copyright © 2014 World Federation for Ultrasound in Medicine & Biology. Published by Elsevier Inc. All rights reserved.

  11. Numerous intracystic floating balls as a sonographic feature of benign cystic teratoma: report of 5 cases.

    PubMed

    Tongsong, Theera; Wanapirak, Chanane; Khunamornpong, Surapan; Sukpan, Kornkanok

    2006-12-01

    The purpose of this series was to describe the unusual but unique sonographic pattern of mature cystic teratoma. Five patients of reproductive age with clinical manifestations of a pelvic mass were evaluated with sonography for treatment planning. All 5 cases showed the similar sonographic pattern of a large cystic tumor filled with multiple echogenic spherical structures floating in the cystic background. Of the 5 patients, 3 had rather large balls varying in size between 1 and 4 cm in the same tumor masses, whereas the other 2 had numerous smaller balls of about 0.5 cm in diameter. The numerous crowded very small echogenic balls in the last 2 cases mimicked solid nodules representing malignancy. However, there was no vascularization in the balls, which suggested a benign nature. The postoperative pathologic diagnosis was mature cystic teratoma without any malignant component in all cases. The sonographic feature of intracystic floating echogenic balls is probably pathognomonic for mature teratoma and is easily detected in most cases. Color Doppler sonography is helpful in differentiating these benign nodules (small balls) from malignant tumors.

  12. Increased enthesopathy in patients with familial Mediterranean fever: evaluation with a new sonographic enthesitis index.

    PubMed

    Ozkan, Fuat; Cetin, Gozde Yildirim; Inci, Mehmet Fatih; Bakan, Betul; Yuksel, Murvet; Ekerbicer, Hasan Cetin; Sayarlioglu, Mehmet

    2013-02-01

    The aim of this study was to determine the frequency of enthesopathy in familial Mediterranean fever by using a newly developed sonographic method, the Madrid Sonographic Enthesitis Index (MASEI). The study included 50 consecutive patients with familial Mediterranean fever and 57 healthy sex- and age-matched control participants. Six entheseal sites (olecranon tuberosity, superior and inferior poles of the patella, tibial tuberosity, and superior and inferior poles of the calcaneus) on both lower limbs were evaluated. All sonographic findings were identified according to MASEI. Validity was analyzed by receiver operating characteristic curves. P < .05 was considered significant. Mean total enthesitis scores ± SD were 7.54 ± 4.99 for patients and 3.63 ± 3.03 for controls (P < .001). No statistically significant correlation was found between the MASEI score and familial Mediterranean fever duration or colchicine treatment duration. There was no difference between the MASEI score and the presence or absence of arthritic involvement among the patients. The area under the receiver operating characteristic curve was 0.74 (95% confidence interval, 0.649-0.839). When analyzed by sex, men with familial Mediterranean fever had significantly higher MASEI scores than women (P < .05). This study showed significant enthesopathy in patients with familial Mediterranean fever. The findings support the hypothesis that familial Mediterranean fever and spondyloarthropathy may have common inflammatory mechanisms and suggest that the MASEI scoring system can be incorporated into clinical protocols for studying patients with familial Mediterranean fever in daily practice.

  13. Sonographic analysis of the intercostal spaces for the application of high-intensity focused ultrasound therapy to the liver.

    PubMed

    Kim, Young-Sun; Park, Min Jung; Rhim, Hyunchul; Lee, Min Woo; Lim, Hyo Keun

    2014-07-01

    The purposes of this study were to assess the widths of the intercostal spaces of the right inferior human rib cage through which high-intensity focused ultrasound therapy would be applied for treating liver cancer and to elucidate the demographic factors associated with intercostal space width. From March 2013 to June 2013, the widths of the intercostal spaces and the ribs at six areas of the right inferior rib cage (area 1, lowest intercostal space on anterior axillary line and the adjacent upper rib; area 2, second-lowest intercostal space on anterior axillary line and the adjacent upper rib; areas 3 and 4, lowest and second-lowest spaces on midaxillary line; areas 5 and 6, lowest and second-lowest spaces on posterior axillary line) were sonographically measured in 466 patients (214 men, 252 women; mean age, 53.0 years) after an abdominal sonographic examination. Demographic factors and the presence or absence of chronic liver disease were evaluated by multivariate analysis to investigate which factors influence intercostal width. The width of the intercostal space was 19.7 ± 3.7 mm (range, 9-33 mm) at area 1, 18.3 ± 3.4 mm (range, 9-33 mm) at area 2, 17.4 ± 4.0 mm (range, 7-33 mm) at area 3, 15.4 ± 3.5 mm (range, 5-26 mm) at area 4, 17.2 ± 3.7 mm (range, 7-28 mm) at area 5, and 14.5 ± 3.6 mm (range, 4-26 mm) at area 6. The corresponding widths of the ribs were 15.2 ± 2.3 mm (range, 8-22 mm), 14.5 ± 2.3 mm (range, 9-22 mm), 13.2 ± 2.0 mm (range, 9-20), 14.3 ± 2.2 mm (range, 9-20 mm), 15.0 ± 2.2 mm (range, 10-22 mm), and 15.1 ± 2.3 mm (range, 8-21 mm). Only female sex was significantly associated with the narrower intercostal width at areas 1, 2, 3, and 5 (regression coefficient, 1.124-1.885; p = 0.01-0.04). There was substantial variation in the widths of the intercostal spaces of the right inferior rib cage such that the anterior and inferior aspects of the intercostal space were relatively wider. Women had significantly narrower intercostal spaces

  14. Genetic counseling and prenatal diagnosis: a multicultural perspective.

    PubMed

    Puñales-Morejon, D

    1997-01-01

    More and more women are using prenatal tests to obtain specific information on the health of the developing fetus. The objective of genetic counseling is not to decrease the occurrence of genetic disease, it is to help individuals and families adjust to their genetic risks and make their own decisions in line with their reproductive goals and world views. Choices made by parent(s) will reflect their own intrapsychic processes as well as their own cultural and social understanding of genetic risk and disease. As prenatal testing continues to diagnose an ever growing number of genetic disorders, genetic counseling faces greater and greater challenges. Now more than ever before, genetic counseling must incorporate both psychological counseling and multiculturalism in order to serve diverse individuals and families at risk for genetic disease.

  15. [Prenatal genetic diagnosis and related nursing care].

    PubMed

    Tzeng, Ya-Ling; Chiu, Tsan-Hung

    2009-12-01

    Prenatal genetic diagnosis plays an important role in eugenics. Early detection of embryo and fetus abnormalities allows preventive precautions to be taken and treatment to begin early in order to reduce the severity and extent of congenital deformities. Advancements in genetic diagnostic techniques infer that nurses are increasingly likely to deal with prenatal genetic diagnosis cases. This essay introduces a few prevalent prenatal genetic diagnosis methods used at different stages of pregnancy; describes in a comprehensive manner the potential physical and psychological responses of the client; and introduces principles of administering prenatal genetic diagnosis to healthcare clients. Ethical issues related to prenatal genetic diagnosis are also discussed.

  16. Noninvasive Prenatal Measurement of the Fetal Genome

    PubMed Central

    Fan, H. Christina; Gu, Wei; Wang, Jianbin; Blumenfeld, Yair J.; El-Sayed, Yasser Y.; Quake, Stephen R.

    2012-01-01

    The vast majority of prenatal genetic testing requires invasive sampling. Since this poses a risk to the fetus, one must make a decision that weighs the desire for genetic information against the risk of an adverse outcome due to hazards of the testing process. These issues are not required to be coupled, and it would be desirable to discover genetic information about the fetus without incurring a health risk. Here we demonstrate that it is possible to noninvasively sequence the entire prenatal genome. Our results show that molecular counting of parental haplotypes in maternal plasma by shotgun sequencing of maternal plasma DNA allows the inherited fetal genome to be deciphered noninvasively. We also applied the counting principle directly to each allele in the fetal exome by performing exome capture on maternal plasma DNA prior to shotgun sequencing. This approach enables noninvasive exome screening of clinically relevant and deleterious alleles that were paternally inherited or had arisen as de novo germline mutations, and complements the haplotype counting approach to provide a comprehensive view of the fetal genome. Noninvasive determination of the fetal genome may ultimately facilitate the diagnosis of all inherited and de novo genetic disease. PMID:22763444

  17. What If the Prenatal Diagnosis of a Lethal Anomaly Turns Out to Be Wrong?

    PubMed

    Kidszun, André; Linebarger, Jennifer; Walter, Jennifer K; Paul, Norbert W; Fruth, Anja; Mildenberger, Eva; Lantos, John D

    2016-05-01

    Advances in prenatal diagnosis create a unique set of clinical ethics dilemmas. Doctors routinely obtain genetic screening, radiologic images, and biophysical profiling. These allow more accurate diagnosis and prognosis than has ever before been possible. However, they also reveal a wider range of disease manifestations than were apparent when prenatal diagnosis was less sophisticated. Sometimes, the best estimates of prognosis turn out to be wrong. The infant's symptoms may be less severe or more severe than anticipated based on prenatal assessment. We present a case in which a prenatal diagnosis was made of severe osteogenesis imperfecta, leading to a decision to induce delivery at 31 weeks. On postnatal evaluation, the infant's disease did not appear to be as bad as had been anticipated. We discuss the ethical implications of such diagnostic and prognostic errors.

  18. Prenatal care effectiveness and utilization in Brazil.

    PubMed

    Wehby, George L; Murray, Jeffrey C; Castilla, Eduardo E; Lopez-Camelo, Jorge S; Ohsfeldt, Robert L

    2009-05-01

    The impact of prenatal care use on birth outcomes has been understudied in South American countries. This study assessed the effects of various measures of prenatal care use on birth weight (BW) and gestational age outcomes using samples of infants born without and with common birth defects from Brazil, and evaluated the demand for prenatal care. Prenatal visits improved BW in the group without birth defects through increasing both fetal growth rate and gestational age, but prenatal care visits had an insignificant effect on BW in the group with birth defects when adjusting for gestational age. Prenatal care delay had no effects on BW in both infant groups but increased preterm birth risk in the group without birth defects. Inadequate care versus intermediate care also increased LBW risk in the group without birth effects. Quantile regression analyses revealed that prenatal care visits had larger effects at low compared with high BW quantiles. Several other prenatal factors and covariates such as multivitamin use and number of previous live births had significant effects on the studied outcomes. The number of prenatal care visits was significantly affected by several maternal health and fertility indicators. Significant geographic differences in utilization were observed as well. The study suggests that more frequent use of prenatal care can increase BW significantly in Brazil, especially among pregnancies that are uncomplicated with birth defects but that are at high risk for low birth weight. Further research is needed to understand the effects of prenatal care use for pregnancies that are complicated with birth defects.

  19. Retrospective study of sonographic findings in bone involvement associated with rotator cuff calcific tendinopathy: preliminary results of a case series*

    PubMed Central

    Nogueira-Barbosa, Marcello H.; Gregio-Junior, Everaldo; Lorenzato, Mario Muller

    2015-01-01

    Objective The present study was aimed at investigating bone involvement secondary to rotator cuff calcific tendonitis at ultrasonography. Materials and Methods Retrospective study of a case series. The authors reviewed shoulder ultrasonography reports of 141 patients diagnosed with rotator cuff calcific tendonitis, collected from the computer-based data records of their institution over a four-year period. Imaging findings were retrospectively and consensually analyzed by two experienced musculoskeletal radiologists looking for bone involvement associated with calcific tendonitis. Only the cases confirmed by computed tomography were considered for descriptive analysis. Results Sonographic findings of calcific tendinopathy with bone involvement were observed in 7/141 (~ 5%) patients (mean age, 50.9 years; age range, 42-58 years; 42% female). Cortical bone erosion adjacent to tendon calcification was the most common finding, observed in 7/7 cases. Signs of intraosseous migration were found in 3/7 cases, and subcortical cysts in 2/7 cases. The findings were confirmed by computed tomography. Calcifications associated with bone abnormalities showed no acoustic shadowing at ultrasonography, favoring the hypothesis of resorption phase of the disease. Conclusion Preliminary results of the present study suggest that ultrasonography can identify bone abnormalities secondary to rotator cuff calcific tendinopathy, particularly the presence of cortical bone erosion. PMID:26811551

  20. Sonographically guided percutaneous needle lavage in calcific tendinitis of the shoulder: short- and long-term results.

    PubMed

    del Cura, Jose Luis; Torre, Iñaki; Zabala, Rosa; Legórburu, Ana

    2007-09-01

    The purpose of our study was to evaluate the short- and long-term effectiveness of sonographically guided percutaneous needle aspiration and lavage in calcific tendinitis of the shoulder and to study the progress of calcifications and symptoms in the first year after treatment. Symptoms and radiologic findings after percutaneous aspiration of calcific tendinitis were prospectively evaluated in the short and the long term using a shoulder pain and disability index, evaluation of shoulder motion, and a survey of the self-perception by the patients regarding the progress of their disease. Sixty-seven consecutive shoulders were treated. A significant improvement was seen in shoulder motion, pain, and disability in the short term and in the long term (p < 0.0001). One year after treatment, 91% of shoulders had substantially or completely improved, 64% had perfect motion, and calcifications on radiography had resolved completely or nearly completely in 89%. A transitory recurrence was observed approximately 15 weeks after treatment in 44.3% of shoulders that improved. Percutaneous needle aspiration and lavage is effective in the short term and in the long term in calcific tendinitis of the shoulder, with results similar to or better than those published for other techniques, and it is only slightly invasive and painful. Progress after treatment may include a transitory period of recurrence of the pain.

  1. Retrospective study of sonographic findings in bone involvement associated with rotator cuff calcific tendinopathy: preliminary results of a case series.

    PubMed

    Nogueira-Barbosa, Marcello H; Gregio-Junior, Everaldo; Lorenzato, Mario Muller

    2015-01-01

    The present study was aimed at investigating bone involvement secondary to rotator cuff calcific tendonitis at ultrasonography. Retrospective study of a case series. The authors reviewed shoulder ultrasonography reports of 141 patients diagnosed with rotator cuff calcific tendonitis, collected from the computer-based data records of their institution over a four-year period. Imaging findings were retrospectively and consensually analyzed by two experienced musculoskeletal radiologists looking for bone involvement associated with calcific tendonitis. Only the cases confirmed by computed tomography were considered for descriptive analysis. Sonographic findings of calcific tendinopathy with bone involvement were observed in 7/141 (~ 5%) patients (mean age, 50.9 years; age range, 42-58 years; 42% female). Cortical bone erosion adjacent to tendon calcification was the most common finding, observed in 7/7 cases. Signs of intraosseous migration were found in 3/7 cases, and subcortical cysts in 2/7 cases. The findings were confirmed by computed tomography. Calcifications associated with bone abnormalities showed no acoustic shadowing at ultrasonography, favoring the hypothesis of resorption phase of the disease. Preliminary results of the present study suggest that ultrasonography can identify bone abnormalities secondary to rotator cuff calcific tendinopathy, particularly the presence of cortical bone erosion.

  2. Does Group Prenatal Care Affect Satisfaction And Prenatal Care Utilization in Iranian Pregnant Women?

    PubMed Central

    Jafari, F; Eftekhar, H; Mohammad, K; Fotouhi, A

    2010-01-01

    Background: The need to provide high quality prenatal care services, which take account of women’s views and specifically address their need for information, support and communication, has been advocated and group prenatal care, had been suggested as one of the ways to achieve this objective. The purpose of this study was to examine the impact of group versus individual prenatal care on satisfaction and prenatal care use. Methods: This was a cluster-randomized controlled trial with the health center as the randomization unit that conducted in 2007. Satisfaction was measured through a standardized questionnaire, and the Kotelchuck Adequacy of Prenatal Care Utilization Index was used to measure prenatal care utilization. Results: We recruited 678 women (group prenatal care, (N= 344) and individual prenatal care, (N=334) in the study. Women in group prenatal care model were more satisfied than women in individual prenatal care model in all areas evaluated, including information, communication, co-ordination and quality of care. Group care women were significantly more likely to have adequate prenatal care than individual care women were (OR=1.35 95% CI=1.26–1.44). Conclusions: Group prenatal care was associated with a significant improvement in client satisfaction and prenatal care utilization. This model of care has implications for the planning and provision of prenatal services within public health system, which is moving toward a better quality health care, and increasing use of services. PMID:23113007

  3. Factors affecting adequate prenatal care and the prenatal care visits of immigrant women to Taiwan.

    PubMed

    Liang, Yia-Wun; Chang, Hua-Pin; Lin, Yu-Hsiu; Lin, Long-Yau; Chen, Wen-Yi

    2014-02-01

    This paper investigates prenatal care utilization, identifies factors affecting the adequacy of prenatal care, and explores the effect of adequate initial timing of prenatal care on total prenatal care visits among Taiwan new immigrant females. Data was obtained from the 2008 Prenatal Care Utilization among Taiwan New Immigrant Females Survey on women who either had at least one preschool-aged child or had delivered their infants but were still hospitalized (N = 476). The Adequacy of Prenatal Care Utilization Index was applied to rate the prenatal care adequacy. The logistic regression model was used to investigate factors associated with the adequacy of prenatal care utilization, and the linear regression model was estimated to identify the impact of influential factors on the prenatal care usage. Females' nationality, employment, and transportation convenience increased the likelihood of receiving adequate prenatal care. Having adequate initial timing of prenatal care was found to be positively related to the frequency of prenatal care visits. Prenatal care utilization can be affected by factors within the health care system and by characteristics of the population; therefore, a measure of prenatal care utilization cannot distinguish these factors but reflects the result of all of them in varying combinations.

  4. Prenatal Nutrition and Later Education

    ERIC Educational Resources Information Center

    Evans, T. N.

    1972-01-01

    Text of an affidavit in the case, Kennedy v. Detroit Board of Education. Reports on a study which established that prenatal nutrition is directly related to brain size and volume determined at 48 hours of infancy and at eight months of age. Pinpoints the relationship between inadequate nutrition in pregnancy, infant brain size, and intellectual…

  5. Prenatal Nutrition and Later Education

    ERIC Educational Resources Information Center

    Evans, T. N.

    1972-01-01

    Text of an affidavit in the case, Kennedy v. Detroit Board of Education. Reports on a study which established that prenatal nutrition is directly related to brain size and volume determined at 48 hours of infancy and at eight months of age. Pinpoints the relationship between inadequate nutrition in pregnancy, infant brain size, and intellectual…

  6. Prenatal diagnosis of 47,XXX.

    PubMed

    Khoury-Collado, Fady; Wehbeh, Ammar N; Fisher, Allan J; Bombard, Allan T; Weiner, Zeev

    2005-05-01

    We report 2 cases of 47,XXX that were diagnosed prenatally and were screened positive for trisomy 21 by biochemical and ultrasound markers. These cases underline the importance of discussing the sex chromosome abnormalities during the genetic counseling after an abnormal triple screen test or ultrasound examination.

  7. Ultrasonographic fetometry and prenatal fetal sex assessment in camels (Camelus dromedarius).

    PubMed

    Ali, Ahmed; Al-Sobayil, Fhad; Derar, Refat; El-Tookhy, Omar

    2013-10-01

    The aims of this study were to determine the developmental patterns of some fetal parts to achieve a high accuracy level in the assessment of gestational age and to assess the feasibility and accuracy of ultrasonic prenatal fetal sex assessment in camels. Serial ultrasonographic examinations were carried out on seven pregnant dromedary camels. A total of 329 ultrasonographic examinations were conducted between the second and the 54th weeks of pregnancy. Intrauterine fluid accumulation was detected between the second and third weeks of pregnancy. The embryo proper was noticed between the third and fourth weeks. Organization of the embryo was first observed between the sixth and seventh weeks. Ossification was first detected between the seventh and ninth weeks. The accessibility during the total gestational period was 35/329 (10.6%) for crown-rump length, 35/329 (10.6%) for biparietal diameter, 42/329 (12.8%) for abdominal diameter, 42/329 (12.8%) for ruminal length, and 126/329 (38.3%) for eyeball diameter. A high correlation was found between gestational age and each of the studied parameters (P < 0.0001). The highest correlation was found with the crown-rump length and the biparietal diameter during the first trimester and with the eyeball diameter during the third trimester of pregnancy. The overall accuracy of the ultrasonic prenatal fetal sex assessment was 91.7%. The best window was found during the 11th week of pregnancy. It was concluded that sonographic fetometry can be useful for the evaluation of fetal development, the estimation of gestational age, and the prediction of prenatal fetal sex in camels. Copyright © 2013 Elsevier Inc. All rights reserved.

  8. Enlarged posterior fossa on prenatal imaging: differential diagnosis, associated anomalies and postnatal outcome.

    PubMed

    Wüest, Anja; Surbek, Daniel; Wiest, Roland; Weisstanner, Christian; Bonel, Harald; Steinlin, Maja; Raio, Luigi; Tutschek, Boris

    2017-07-01

    The primary aim of this study was to ascertain the prevalence of the individual conditions and of associated anomalies in fetuses with the prenatal diagnosis of enlarged posterior fossa (PF) and to explore the diagnostic accuracy of ultrasound in these anomalies. The secondary aim was to evaluate the postnatal outcome of children affected by PF anomalies. All fetuses with enlarged PF detected by prenatal sonography at a referral center from 2001 to 2015 were analyzed retrospectively. Some were also studied by fetal magnetic resonance imaging (MRI) or volume ultrasound examinations. Fetal sonographic and MRI were compared using following classification: Dandy-Walker malformation (DWM); megacisterna magna (MCM); Blake's pouch cyst; isolated vermian hypoplasia; vermian agenesis; PF arachnoid cyst (AC); and cerebellar hypoplasia (CH). The ultrasound diagnoses of the 69 fetuses were as follows: MCM (n = 29; of these isolated n = 15), DWM (n = 28, isolated n = 4), vermian hypoplasia (n = 5, isolated n = 4), Blake's pouch cyst (n = 4, isolated n = 1), CH (n = 2; none isolated) and AC in the PF (n = 1, isolated). Thirteen of the 41 karyotyped fetuses were aneuploid, including seven with DWM. Associated malformations were found in 37/69 cases. There were 39 live births, including 11 with confirmed DWM, six of whom show a normal development. Twelve infants with isolated MCM show normal development. There were eight false-positive prenatal diagnoses (or resolution until birth) of "enlarged PF": three with Blake's pouch cyst, two with MCM and one with vermian hypoplasia. An enlarged PF requires specific diagnoses for the best possible counseling. The term "Dandy-Walker variant" should not be used anymore. Isolated MCM and Blake's pouch cyst can either resolve or be normal variants, but may also indicate the presence of a more severe anomaly or associated malformations. © 2017 Nordic Federation of Societies of Obstetrics and Gynecology.

  9. Prenatal genetic diagnosis of retinoblastoma – clinical correlates on follow-up

    PubMed Central

    Neriyanuri, Srividya; Raman, Rajiv; Rishi, Pukhraj; Govindasamy, Kumaramanickavel; Ramprasad, V L; Sharma, Tarun

    2015-01-01

    Retinoblastoma is the most common malignant intraocular tumor in pediatric age group if undetected leads to ocular mortality. Prenatal diagnosis is an emerging technology to detect fatal diseases in utero such that subsequent management is planned to reduce the ocular morbidity. We describe a case demonstrating the importance of prenatal diagnosis in a child with a strong family history of retinoblastoma and importance of a long-term clinical follow-up in these cases. PMID:26632134

  10. Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency.

    PubMed

    Oldani, Elena; Garel, Catherine; Bucourt, Martine; Carbillon, Lionel

    2015-12-16

    Prenatal diagnosis of severe bone diseases is challenging and requires complete and precise analysis of fetal anomalies to guide genetic investigation and parental counselling. We report a rare case of Antley-Bixler syndrome prenatally diagnosed at 26 weeks' gestation by ultrasound and computed tomography in a 28-year-old woman with a history of early termination of pregnancy for "malposition of the inferior limbs". The prenatal ultrasound scan showed severe femoral bowing and frontal bossing. Taking into account the high probability of a recurrent severe skeletal disorder, a computed tomography (CT) scan was proposed. CT findings revealed bilateral femora deformation, craniosynostosis, severe midface hypoplasia, and radiohumeral synostosis. These anomalies strongly suggested Antley-Bixler syndrome. Sequencing of the POR gene in the fetus and the parents revealed compound heterozygous mutations in exon 9 and intron 7, both inherited from each parent, and this finding allowed genetic counseling. The first step in the proper prenatal diagnosis of fetal bone disorders is the precise analysis of ultrasonographic images. However, when a severe fetal inherited disorder is strongly suspected in late mid-trimester, CT may be discussed and usefully contribute to diagnosis and prognosis assessment.

  11. Challenging the rhetoric of choice in prenatal screening.

    PubMed

    Seavilleklein, Victoria

    2009-01-01

    Prenatal screening, consisting of maternal serum screening and nuchal translucency screening, is on the verge of expansion, both by being offered to more pregnant women and by screening for more conditions. The Society of Obstetricians and Gynaecologists of Canada and the American College of Obstetricians and Gynecologists have each recently recommended that screening be extended to all pregnant women regardless of age, disease history, or risk status. This screening is commonly justified by appeal to the value of autonomy, or women's choice. In this paper, I critically examine the value of autonomy in the context of prenatal screening to determine whether it justifies the routine offer of screening and the expansion of screening services. I argue that in the vast majority of cases the option of prenatal screening does not promote or protect women's autonomy. Both a narrow conception of choice as informed consent and a broad conception of choice as relational reveal difficulties in achieving adequate standards of free informed choice. While there are reasons to worry that women's autonomy is not being protected or promoted within the limited scope of current practice, we should hesitate before normalizing it as part of standard prenatal care for all.

  12. Prenatal diagnosis of spinal muscular atrophy in Macedonian families.

    PubMed

    Kocheva, Svetlana A; Plaseska-Karanfilska, Dijana; Trivodalieva, Svetlana; Kuturec, Marija; Vlaski-Jekic, Snezana; Efremov, Georgi Dimitar

    2008-09-01

    Spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disorder of childhood, affecting approximately 1 in 6,000-10,000 births, with a carrier frequency of 1 in 40-60. There is no effective cure or treatment for this disease. Thus, the availability of prenatal testing is important. The aim of this study was to establish an efficient and rapid method for prenatal diagnosis of SMA and genetic counseling in families with risk for having a child with SMA. In this paper we present the results from prenatal diagnosis in Macedonian SMA families using direct analysis of fetal DNA. The probands of these families were previously found to be homozygous for a deletion of exons 7 and 8 of SMN1 gene. DNA obtained from chorionic villas samples and amniocytes was analyzed for deletions in SMN gene. SMN exon 7 and 8 deletion analysis was performed by polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP). Of the 12 prenatal diagnoses, DNA analysis showed normal results in eight fetuses. Four of the fetuses were homozygote for a deletion of exons 7 and 8 of SMN1. After genetic counseling, the parents of the eight normal fetuses decided to continue the pregnancy, while in the four families with affected fetuses, the pregnancy was terminated. The results were confirmed after birth.

  13. [Prenatal diagnosis of trisomy 18 syndrome with sonogram index scoring system].

    PubMed

    Peng, Ruan; Xie, Hong-ning; Zhang, Ying; Luo, Yan-min; Li, Li-juan; Zhu, Yun-xiao; Lin, Mei-fang

    2011-11-01

    To explore the value of sonogram index scoring system in the prenatal diagnosis of trisomy 18 syndrome. Neonates who had prenatal sonographic screening in our tertiary center were followed up from January 2004 to December 2009. The fetuses who were suspected with abnormalities received karyotype analysis. All fetuses were divided into case group (trisomy 18 group) and the control group (non-trisomy 18 group). The latter group was constituted of fetuses with trisomy 21, trisomy 13, other chromosomal abnormalitis and fetuses with normal karyotype. Logistic regression analysis was done to decide the individual sonographic features of trisomy 18. A score was assigned for ultrasound markers according to their likelihood ratios for trisomy 18 syndrome. A score of 3 was assigned for the sonographic features with likelihood ratio over 200, 2 for those with likelihood ratio between 100 and 200, and 1 for those with likelihood ratio less than 100. The diagnostic efficacy of the ultrasound index scoring system was evaluated by diagnostic test. The optimal cutoff value was determined by receiver operating characteristic (ROC) curve. The study group included 59 fetuses with trisomy 18. And 26 486 fetuses did not have trisomy 18 syndrome, including 93 fetuses with trismoy 21, 19 fetuses with trisomy 13, 134 fetuses with other chromosomal abnormalities, 3739 fetuses with normal karyotype and 22 501 fetuses with normal appearance after birth. Two or more structural defects were observed in each trisomy 18 fetus. The highest incidence of sonogram abnormalities was extremities abnormalities (85%, 50/59), followed by cardiac defects (83%, 49/59) and central nervous system (CNS) malformations (75%, 44/59). Overlapping fingers, ventricular septal defect and strawberry-shaped skull were the most common abnormalities in extremities abnormalities, cardiac defects and CNS malformations, respectively. Logistic regression identified 16 markers, including choroid plexus cyst, strawberry

  14. Splenic abscess due to blastomycosis: scintigraphic, sonographic, and CT evaluation

    SciTech Connect

    Dubuisson, R.L.; Jones, T.B.

    1983-01-01

    This paper describes the radiologic evaluation of a case of splenic abscess secondary to North American blastomycosis in a known intravenous drug abuser, a disease not believed to be previously reported in the radiologic literature. Dynamic computed tomography proved especially useful in narrowing the diagnostic possibilities and excluding vascular lesions.

  15. A pilot study to precisely quantify forces applied by sonographers while scanning: A step toward reducing ergonomic injury.

    PubMed

    Dhyani, Manish; Roll, Shawn C; Gilbertson, Matthew W; Orlowski, Melanie; Anvari, Arash; Li, Qian; Anthony, Brian; Samir, Anthony E

    2017-09-14

    There is a significantly high rate of work-related musculsokeletal injuries in sonography professionals. To date, assessment of risk factors for work- related injuries in sonographers has been based primarily on surveys, subjective reports, and observational methods. There is a need to develop quantitative techniques to better understand risk factors and develop preventive interventions. We pilot tested a high-resolution force-measuring probe capable of precisely measuring forces applied through the transducer by sonographers and used this novel direct measurement technique to evaluate forces during abdominal imaging. Twelve sonographers with varied experience, ranging from 1-33 years, performed routine abdominal scans on 10 healthy volunteers who had varied body mass indices (BMI). Imaging was conducted using the force-measuring probe, which provided real-time measurement of forces, and angles. Data were compared by sonographer years of experience and subject BMI. In total, 47 abdominal examinations were performed as part of this study, and all images met standards for clinical diagnostic quality. The mean contact force applied across all exams was 8.2±4.3 Newtons (N) (range: 1.2-36.5 N). For subjects in the high BMI group (BMI>25, n = 4) the mean force was 10.5 N (range: 8.9-13.2 N) compared to 7.9 N (range: 5.9-10.9 N) for subjects with normal BMI (BMI = 18.5-25, n = 6). Similarly, the mean maximum force applied for subjects with high BMI (25.3 N) was significantly higher than force applied for subjects with normal BMI (17.4 N). No significant difference was noted in the amount of force applied by sonographers with more than 5 years of experience (n = 6) at 8.2 N (Range: 5.1-10.0 N) compared to less experienced sonographers (n = 6), whose forces averaged 8.1 N (Range: 5.8-10.0 N). It is feasible to directly measure forces applied by sonographers using a high-resolution force measurement system. Forces applied during

  16. Prenatal Screening, Reproductive Choice, and Public Health

    PubMed Central

    Wilkinson, Stephen

    2015-01-01

    One widely held view of prenatal screening (PNS) is that its foremost aim is, or should be, to enable reproductive choice; this is the Pure Choice view. The article critiques this position by comparing it with an alternative: Public Health Pluralism. It is argued that there are good reasons to prefer the latter, including the following. (1) Public Health Pluralism does not, as is often supposed, render PNS more vulnerable to eugenics-objections. (2) The Pure Choice view, if followed through to its logical conclusions, may have unpalatable implications, such as extending choice well beyond health screening. (3) Any sensible version of Public Health Pluralism will be capable of taking on board the moral seriousness of abortion and will advocate, where practicable, alternative means of reducing the prevalence of disease and disability. (4) Public Health Pluralism is at least as well-equipped as the Pure Choice model to deal with autonomy and consent issues. PMID:25521971

  17. Prenatal power--education for life.

    PubMed Central

    Pan, E; Gross, D; Gross, A; Bello, D

    1996-01-01

    OBJECTIVE: To expand community service opportunities in health promotion and disease prevention for approximately 20% of the female students at Boston High School, who are pregnant or parenting. METHODS: Students at Tufts University School of Medicine created, organized, and taught an interactive curriculum encompassing pre- and postnatal health at Boston High School. Evaluation of program effectiveness is provided by questionnaires completed by participating high school students, medical students, and the high school Health Services Advisor. RESULTS: Short-term outcomes will examine self-esteem, prenatal care knowledge and decision making behavior. Long-term followup will assess outcomes such as birth weight complications, educational status of parents, additional pregnancies, and child health. PMID:8955703

  18. Overload syndromes of the knee in adolescents: Sonographic findings

    PubMed Central

    Draghi, F.; Danesino, G.M.; Coscia, D.; Precerutti, M.; Pagani, C.

    2008-01-01

    Overload syndromes are caused by repetitive microtrauma, and the knee joint is most frequently affected in adolescents. The reason for this is that the knee joint is engaged in almost all sports activities. Pathologies related to the anterior aspect of the knee are: femoropatellar pain, jumper's knee syndromes, Osgood–Schlatter disease, Sinding-Larsen–Johansson syndrome and patellar stress fractures; to the medial aspect: semimembranous tendon enthesopathy and pes anserinus bursitis; to the lateral aspect: iliotibial band syndrome (runner's knee), popliteus and femoral biceps tendon enthesopathy; to the posterior aspect: fabella syndrome and medial gastrocnemius muscle tendon enthesopathy. Sonography plays a central role in the diagnosis and can also evaluate the evolution of diseases. This method is well accepted by the patients and by their parents, it does not involve exposure to X-rays and it is inexpensive. US imaging should, therefore, be considered a first-line imaging diagnostic technique in functional overuse syndromes of the knee. PMID:23396316

  19. Prenatal diagnosis in haemophilia A: experience of the genetic diagnostic laboratory.

    PubMed

    Kessler, L; Adams, R; Mighion, L; Walther, S; Ganguly, A

    2014-11-01

    The paper describes the experience of the Genetic Diagnostic Laboratory in prenatal testing for haemophilia A, an X-linked recessive disease caused by mutations in the F8 gene. Knowledge of a familial mutation prior to pregnancy can benefit prenatal diagnosis and decrease wait time for molecular testing during pregnancy. This is a retrospective review of a series of pregnant women who pursued F8 gene testing from December 1997 through May 2012, highlighting three cases, which demonstrate the technical complexities of analysis and the implications of not knowing carrier status prior to pregnancy. Mutations of the F8 gene were detected in affected males, obligate female carriers and suspected female carriers by DNA sequencing, inverse-PCR, qRT-PCR, Southern blot and exonic dosage analysis. The same methods were used to analyse prenatal samples from obligate or suspected female carriers upon request. Maternal cell contamination studies were performed for all prenatal samples analysed. Ninety-nine women pursued F8 testing during pregnancy, either for carrier status alone or carrier status and prenatal diagnosis. Ninety-one women (91%) requested carrier testing because they did not know their F8 mutation carrier status prior to pregnancy. Eight women requested prenatal diagnosis only, and only 4 of these were aware of their mutation status. Thirty-seven individuals were found to be mutation carriers. Forty-two prenatal samples were received for prenatal diagnosis. In total 21 foetuses were identified as mutation carriers. Mutation detection was complex and increased the turnaround time in some cases. Only four of 99 women who submitted samples for F8 testing were aware of their F8 mutation status prior to pregnancy. Knowledge of F8 mutation status prior to pregnancy allows for efficient prenatal diagnosis, when desired. Thus, preconception genetic counselling is required to inform patients of the available options and the complex and time-consuming nature of F8 testing

  20. Prenatal irradiation-induced brain neuropathology and cognitive impairment.

    PubMed

    Yang, Bo; Ren, Bo Xu; Tang, Feng Ru

    2017-01-01

    Embryo/fetus is much more radiosensitive than neonatal and adult human being. The main potential effects of pre-natal radiation exposure on the human brain include growth retardation, small head/brain size, mental retardation, neocortical ectopias, callosal agenesis and brain tumor which may result in a lifetime poor quality of life. The patterns of prenatal radiation-induced effects are dependent not only on the stages of fetal development, the sensitivity of tissues and organs, but also on radiation sources, doses, dose rates. With the increased use of low dose radiation for diagnostic or radiotherapeutic purposes in recent years, combined with postnatal negative health effect after prenatal radiation exposure to fallout of Chernobyl nuclear power plant accident, the great anxiety and unnecessary termination of pregnancies after the nuclear disaster, there is a growing concern about the health effect of radiological examinations or therapies in pregnant women. In this paper, we reviewed current research progresses on pre-natal ionizing irradiation-induced abnormal brain structure changes. Subsequent postnatal neuropsychological and neurological diseases were provided. Relationship between irradiation and brain aging was briefly mentioned. The relevant molecular mechanisms were also discussed. Future research directions were proposed at the end of this paper. With limited human data available, we hoped that systematical review of animal data could relight research interests on prenatal low dose/dose rate irradiation-induced brain microanatomical changes and subsequent neurological and neuropsychological disorders. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  1. Non-invasive prenatal testing: ethical issues explored

    PubMed Central

    de Jong, Antina; Dondorp, Wybo J; de Die-Smulders, Christine E M; Frints, Suzanne G M; de Wert, Guido M W R

    2010-01-01

    This paper explores the ethical implications of introducing non-invasive prenatal diagnostic tests (NIPD tests) in prenatal screening for foetal abnormalities. NIPD tests are easy and safe and can be performed early in pregnancy. Precisely because of these features, it is feared that informed consent may become more difficult, that both testing and selective abortion will become ‘normalized', and that there will be a trend towards accepting testing for minor abnormalities and non-medical traits as well. In our view, however, the real moral challenge of NIPD testing consists in the possibility of linking up a technique with these features (easy, safe and early) with new genomic technologies that allow prenatal diagnostic testing for a much broader range of abnormalities than is the case in current procedures. An increase in uptake and more selective abortions need not in itself be taken to signal a thoughtless acceptance of these procedures. However, combining this with considerably enlarging the scope of NIPD testing will indeed make informed consent more difficult and challenge the notion of prenatal screening as serving reproductive autonomy. If broad NIPD testing includes later-onset diseases, the ‘right not to know' of the future child will become a new issue in the debate about prenatal screening. With regard to the controversial issue of selective abortion, it may make a morally relevant difference that after NIPD testing, abortion can be done early. A lower moral status may be attributed to the foetus at that moment, given the dominant opinion that the moral status of the foetus progressively increases with its development. PMID:19953123

  2. Prenatal diagnosis of Sanfilippo syndrome.

    PubMed

    Hopwood, John J

    2005-02-01

    The focus of this communication is to comment on the relative importance of enzymatic and molecular genetics, potential false results and future options for prenatal diagnosis of Sanfilippo syndrome (mucopolysaccharidosis (MPS) types IIIA, IIIB, IIIC and IIID). During the provision of an international service over the past 25 years, our department has identified 7 affected out of 49 MPS III prenatal assessments. During this period, the technology used by us and others (Thompson et al., 1993; Kleijer et al., 1996) in these diagnoses has undergone considerable development in evolution. Our policy to maintain a close relationship between the provision of a diagnostic service and research to achieve an overall goal of early diagnosis and effective therapy have progressed both activities.

  3. Prenatal Screening Methods for Aneuploidies

    PubMed Central

    Dey, Madhusudan; Sharma, Sumedha; Aggarwal, Sumita

    2013-01-01

    Aneuploidies are a major cause of perinatal morbidity and mortality. Therefore, it is the most common indication for invasive prenatal diagnosis. Initially, screening for aneuploidies started with maternal age risk estimation. Later on, serum testing for biochemical markers and ultrasound markers were added. Women detected to be at high-risk for aneuploidies were offered invasive testing. New research is now focusing on non-invasive prenatal testing using cell-free fetal DNA in maternal circulation. The advantage of this technique is the ability to reduce the risk of miscarriage associated with invasive diagnostic procedures. However, this new technique has its own set of technical limitations and ethical issues at present and careful consideration is required before broad implementation PMID:23626953

  4. Prenatal diagnosis of cloacal malformation.

    PubMed

    Peiro, Jose L; Scorletti, Federico; Sbragia, Lourenco

    2016-04-01

    Persistent cloaca malformation is the most severe type of anorectal and urogenital malformation. Decisions concerning the surgical treatment for this condition are taken during the first hours of life and may determine the quality of life of these patients. Thus, prenatal diagnosis becomes important for a prompt and efficient management of the fetus and newborn, and accurate counseling of the parents regarding its consequences and the future of the baby. Careful evaluation by ultrasonography, and further in-depth analysis with MRI, allow prenatal detection of characteristic findings, which can lead to diagnose or at least suspect this condition. We reviewed our experience and the literature in order to highlight the most important clues that can guide the physician in the differential diagnosis. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. Prenatal Screening Using Maternal Markers

    PubMed Central

    Cuckle, Howard

    2014-01-01

    Maternal markers are widely used to screen for fetal neural tube defects (NTDs), chromosomal abnormalities and cardiac defects. Some are beginning to broaden prenatal screening to include pregnancy complications such as pre-eclampsia. The methods initially developed for NTDs using a single marker have since been built upon to develop high performance multi-maker tests for chromosomal abnormalities. Although cell-free DNA testing is still too expensive to be considered for routine application in public health settings, it can be cost-effective when used in combination with existing multi-maker marker tests. The established screening methods can be readily applied in the first trimester to identify pregnancies at high risk of pre-eclampsia and offer prevention though aspirin treatment. Prenatal screening for fragile X syndrome might be adopted more widely if the test was to be framed as a form of maternal marker screening. PMID:26237388

  6. [Sonographic follow-up of secondary fracture healing. Initial experiences with morphologic and semiquantitative assessment of periosteal callus formation].

    PubMed

    Hannesschläger, G; Reschauer, R

    1990-08-01

    We report on the contribution of real-time sonography in comparison to plain radiographs to the assessment of fracture healing of 121 patients suffering fractures of the long bones of the lower limbs. Sonographic morphology of periosteal callus metamorphosis shows basically a persistent increase of echogenicity representing the temporal range from fracture haematoma to the "woven bone". Further criteria are the homogeneity of structure and the development of a marginal interface. Nonunion radiologically classified into hypertrophic and atrophic types may also be differentiated by sonographic criteria and may influence proper orthopaedic management. Regarding sonographic methods using an A-mode amplitude signal, the morphologic assessment of callus metamorphosis is more likely to be translated into clinical practice. Although it yields a variety of information, sonography will be unable to replace radiography due to methodical limitations.

  7. Prenatal nutrition and birth outcomes.

    PubMed

    Fowles, Eileen R

    2004-01-01

    The complex relationship between maternal nutritional and birth outcomes emphasizes the need for consistent and thorough assessments of women's diet throughout pregnancy and individualized nutritional education to promote positive birth outcomes. The purpose of this article is to examine the influence of prenatal nutrition on birth outcomes, describe research on the effects of macro- and micronutrients on birth outcomes, and discuss strategies for monitoring diet and implementing nutrition education during pregnancy.

  8. Prenatal control of nondeletional α-thalassemia: first experience in mainland China.

    PubMed

    Li, Jian; Li, Ru; Zhou, Jian-Ying; Xie, Xing-Mei; Liao, Can; Li, Dong-Zhi

    2013-09-01

    To demonstrate the performance of nondeletional α-thalassemia prevention at a mainland Chinese hospital. A prenatal control program for nondeletional hemoglobin H (Hb H) disease was conducted from January 2010 to June 2012. All couples were screened for α-thalassemia trait, and for couples in whom one partner was tested positive for α(0) -thalassemia, the other was subjected to screening for Hb Constant Spring and Hb Quong Sze mutations. Prenatal diagnoses were offered in pregnancies of couples at-risk for nondeletional Hb H disease. Of the 30,152 couples screened, 18 (0.06%) were diagnosed as at risk for nondeletional Hb H disease. There were other 13 at-risk couples who were referred to prenatal diagnosis because they had previously an affected child. Of the 31 cases with prenatal invasive tests, 11 (35.5%) had diagnosis by chorionic villous sampling, and 20 (64.5%) had amniocentesis. Totally, 12 fetuses were diagnosed with nondeletional Hb H disease, and all of the affected pregnancies were terminated. Implementation of a prevention and control program accompanying with a referral system for prenatal diagnosis is technically feasible in southern China, and a number of nondeletional Hb H disease have been prevented during the past 3 years of operation. © 2013 John Wiley & Sons, Ltd.

  9. Increased precipitation of spasms in an animal model of infantile spasms by prenatal stress exposure.

    PubMed

    Shi, Xiu-Yu; Ju, Jun; Zou, Li-Ping; Wang, Juan; Shang, Ning-Xiu; Zhao, Jian-Bo; Wang, Jing; Zhang, Jun-Yan

    2016-05-01

    Infantile spasms (IS) represent a serious epileptic syndrome, called West syndrome (WS) that occurs in the early infantile age. Although several hypotheses and animal models have been proposed to explain the pathogenesis of IS, the pathophysiology of IS has not been elucidated. Recently, we proposed a hypothesis for IS under prenatal stress exposure (also called Zou's hypothesis) by correlating diverse etiologies and prenatal stresses with IS development. This research aims to determine the mechanism through which prenatal stress affects the offspring and establish the potential underlying mechanisms. Pregnant rats were subjected to forced swimming in cold water. Rat pups exposed to prenatal stress were administered with N-methyl-D-aspartate (NMDA). Exposure to prenatal stress sensitized the rats against development of NMDA-induced spasms. However, this phenomenon was altered by administering adrenocorticotropin. Prenatal stress exposure also altered the hormonal levels and neurotransmitter receptor expression of the developing rats as well as influenced the tissue structure of the brain. These findings suggest that maternal stress could alter the level of endogenous glucocorticoid, which is the basis of IS, and cerebral dysplasia, hypoxic-ischemic encephalopathy (HIE), inherited metabolic diseases, and other factors activated this disease in developmental brain. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Reliability Assessment of Various Sonographic Techniques for Evaluating Carpal Tunnel Syndrome.

    PubMed

    Junck, Anthony D; Escobedo, Eva M; Lipa, Bethany M; Cronan, Michael; Anthonisen, Colleen; Poltavskiy, Eduard; Bang, Heejung; Han, Jay J

    2015-11-01

    Objectives-The aim of this study was to determine the intra- and inter-rater reliability of sonographic measurements of the median nerve cross-sectional area in individuals with carpal tunnel syndrome and healthy control participants.Methods-The median nerve cross-sectional area was evaluated by sonography in 18 participants with carpal tunnel syndrome (18 upper extremities) and 9 control participants (18 upper extremities) at 2 visits 1 week apart. Two examiners, both blinded to the presence or absence of carpal tunnel syndrome, captured independent sonograms of the median nerve at the levels of the carpal tunnel inlet, pronator quadratus, and mid-forearm. The cross-sectional area was later measured by each examiner independently. Each also traced images that were captured by the other examiner.Results-Both the intra- and inter-rater reliability rates were highest for images taken at the carpal tunnel inlet (radiologist, r = 0.86; sonographer, r = 0.87; inter-rater, r = 0.95; all P < .0001), whereas they was lowest for the pronator quadratus (r = 0.49, 0.29, and 0.72, respectively; all P < .0001). At the mid-forearm, the intra-rater reliability was lower for both the radiologist and sonographer, whereas the inter-rater reliability was relatively high (r = 0.54, 0.55, and 0.81; all P < .0001). Tracing of captured images by different examiners showed high concordance for the median cross-sectional area at the carpal tunnel inlet (r = 0.96-0.98; P < .0001).Conclusions-The highest intra- and inter-rater reliability was found at the carpal tunnel inlet. The results also demonstrate that tracing of the median nerve cross-sectional area from captured images by different examiners does not contribute significantly to measurement variability. © 2015 by the American Institute of Ultrasound in Medicine.

  11. Arthrofibrosis associated with total knee arthroplasty: gray-scale and power Doppler sonographic findings.

    PubMed

    Boldt, Jens G; Munzinger, Urs K; Zanetti, Marco; Hodler, Juerg

    2004-02-01

    The objective of this study was to determine gray-scale and power Doppler sonographic findings in patients with arthrofibrosis associated with total knee arthroplasty. SUBJECTS AND METHODS. From a consecutive cohort of more than 3000 mobilebearing total knee arthroplasties, 44 cases (1.5%) with arthrofibrosis were identified, of which 38 were recruited for a clinical and sonographic investigation. A control group of 38 patients with a well-functioning total knee arthroplasty was matched. Synovial hypertrophy, presence of neovascularity, patellar tendon thickness, and extent of effusion were assessed. Synovial membrane thickness was significantly (p < 0.001) increased in the arthrofibrosis group (medial, 3.4 mm; lateral, 3.0 mm; suprapatellar, 3.1 mm) when compared with the control group (medial, 2.0 mm; lateral, 2.0 mm; suprapatellar, 1.9 mm). When a cutoff of 3.0 mm was used, sonography had a sensitivity of 84% and a specificity of 82% for detecting arthrofibrosis. Neovascularity (rated as grades 0-3) of the synovial membrane and Hoffa's fat pad was significantly (p sonographic findings for the diagnosis of arthrofibrosis associated with total knee arthropla