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Sample records for disease prenatal sonographic

  1. Intrauterine Temporomandibular Joint Dislocation: Prenatal Sonographic Evaluation

    PubMed Central

    Çil, Ahmet Said; Bozkurt, Murat; Bozkurt, Duygu Kara

    2014-01-01

    Congenital temporomandibular joint (TMJ) diseases are very rare disorders and are usually diagnosed in childhood. Developmental disorders of the TMJ such as hypoplasia, hyperplasia, and aplasia of the TMJ compartments are characterized by TMJ dysfunction. In childhood, these patients experience recurrent dislocation, pain, and malocclusion. We present the case of a 25-week fetus with unilateral TMJ dislocation with fluid retention in the joint diagnosed by ultrasonography. To the best of our knowledge, this is the first case of TMJ dislocation diagnosed by ultrasonographic evaluation during the prenatal period. PMID:23669613

  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. 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

  5. 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

  6. 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.

  7. 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.

  8. 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

  9. 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.

  10. 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.

  11. 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.

  12. 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.

  13. 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

  14. 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

  15. 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.

  16. 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.

  17. 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

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. 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

  3. 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

  4. 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.

  5. 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.

  6. 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.

  7. 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

  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. 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

  10. 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

  11. 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.

  12. 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

  13. [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.

  14. 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.

  15. 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.

  16. 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

  17. 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

  18. Behavioral and Biological Effects of Prenatal Stress and Social Enrichment: Relevance to Heart Disease

    DTIC Science & Technology

    2009-08-17

    elevated plus maze, forced swim test, and social interaction ) variables relevant to cardiovascular disease risk. Prenatal stress and early environment had...and a greater am’ount of social interaction for males only. Overall, social environment did not attenuate the detrimental effects of prenatal...28 Social Interaction .................................................................................... 29 ix PRELIMINARY STUDy

  19. [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.

  20. 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

  1. 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

  2. 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

  3. 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

  4. 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

  5. Sonographic evaluation of athletic pubalgia.

    PubMed

    Morley, Nicholas; Grant, Thomas; Blount, Kevin; Omar, Imran

    2016-05-01

    Athletic pubalgia, or "sports hernia", represents a constellation of pathologic conditions occurring at and around the pubic symphysis. These injuries are primarily seen in athletes or those involved in athletic activity. In this article, we review the sonographic appearance of the relevant complex anatomy, scanning technique for ultrasound evaluation of athletic pubalgia, and the sonographic appearances of associated pathologic conditions.

  6. 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.

  7. 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.

  8. 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.

  9. 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.

  10. 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.

  11. 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.

  12. Prenatal MRI Diagnosis of Hirschsprung's Disease at 29 Weeks' Gestational Age in a Fetus with Heterotaxy and Polysplenia Syndrome.

    PubMed

    Meyers, Mariana L; Crombleholme, Timothy

    2016-01-01

    Prenatal diagnosis of Hirschsprung's disease is extremely rare and has only been suggested by ultrasound. This report presents a 29-week fetus with heterotaxy and polysplenia syndrome and prenatal diagnosis of nonrotation of the bowel and Hirschsprung's disease by fetal MRI. None of the previously reported findings in the literature suggestive of distal bowel obstruction were noted in this case. Rather, there was a diminutive size of the rectosigmoid compared to the rest of the colon. Fetal MRI has become an important tool in the fetal diagnosis of multiple anomalies and can aid in perinatal and immediate postnatal care of patients, such as those with Hirschsprung's disease.

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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

  19. 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.

  20. [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.

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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

  6. 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.

  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. 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)

  10. 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

  11. 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.

  12. 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).

  13. 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.

  14. 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.

  15. 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

  16. 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

  17. 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.

  18. 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

  19. 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.

  20. 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.

  1. 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

  2. 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.

  3. 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

  4. 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

  5. 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

  6. 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.

  7. Sonographic evaluation of visceral and subcutaneous fat in obese children*

    PubMed Central

    Sakuno, Telma; Tomita, Letícia Mary; Tomita, Carolina Mywa; Giuliano, Isabela de Carlos Back; Ibagy, Amanda; Perin, Nilza Maria Medeiros; Poeta, Lisiane Schilling

    2014-01-01

    Objective To evaluate sonographic measurements of visceral and subcutaneous fat in children, and to investigate the usefulness of preperitoneal fat (PF) and the abdominal wall fat index (AFI) as parameters to determine visceral fat and presence of nonalcoholic fatty liver disease (NAFLD) in obese children. Materials and Methods A case-control study of a sample including 44 children (22 cases and 22 controls) matched by sex and age. The Student t test and the Fisher exact test were utilized in the descriptive and bivariate analysis. Results The sonographic parameters evaluated - subcutaneous cell tissue, PF and intraperitoneal fat, and NAFLD - presented high statistical association with body mass index. NAFLD was observed in eight obese patients (36.36%), and PF and AFI were the variables with highest statistical significance, with p < 0.0001. Conclusion Ultrasonography is useful tool in the differentiation and quantification of visceral and subcutaneous fat in children. The measures of PF and AFI are useful in the assessment of visceral fat and NAFLD in obese children. PMID:25741071

  8. 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.

  9. 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

  10. 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.

  11. 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.

  12. Prenatal Genetic Screening Tests

    MedlinePlus

    ... Education & Events Advocacy For Patients About ACOG Prenatal Genetic Screening Tests Home For Patients Search FAQs Prenatal ... Screening Tests FAQ165, September 2016 PDF Format Prenatal Genetic Screening Tests Pregnancy What is prenatal genetic testing? ...

  13. Prenatal Genetic Diagnostic Tests

    MedlinePlus

    ... Education & Events Advocacy For Patients About ACOG Prenatal Genetic Diagnostic Tests Home For Patients Search FAQs Prenatal ... Pamphlets - Spanish FAQ164, September 2016 PDF Format Prenatal Genetic Diagnostic Tests Pregnancy What is prenatal genetic testing? ...

  14. 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.

  15. 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

  16. 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

  17. 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.

  18. 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

  19. 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

    2017-01-11

    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.

  20. 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

  1. 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.

  2. 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

  3. 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.

  4. 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"…

  5. 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…

  6. [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.

  7. 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

  8. 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.

  9. 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.

  10. 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".

  11. 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.

  12. Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC).

    PubMed

    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 CuCl(2) (50 mg/kg) and dimethyldithiocarbamate (DMDTC) (280 mg/kg) leads to an increase in survival to about 76±25.3 days, whereas treatment with CuCl(2) 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 CuCl(2) 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.

  13. 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.

  14. 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

  15. 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.

  16. [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.

  17. 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.

  18. 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.

  19. 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.

  20. 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

  1. [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.

  2. 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.

  3. 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

  4. 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.

  5. Prenatal ultrasound - slideshow

    MedlinePlus

    ... page: //medlineplus.gov/ency/presentations/100197.htm Prenatal ultrasound - series—Procedure, part 1 To use the sharing ... Editorial team. Related MedlinePlus Health Topics Prenatal Testing Ultrasound A.D.A.M., Inc. is accredited by ...

  6. Prenatal Genetic Testing Chart

    MedlinePlus

    ... Education & Events Advocacy For Patients About ACOG Prenatal Genetic Testing Chart (Infographic) Home For Patients Search FAQs Prenatal Genetic Testing Chart (Infographic) PFSI010 ››› Weeks 1–4 Weeks ...

  7. 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.

  8. 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

  9. 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.

  10. 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.

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. Prenatal Tests

    MedlinePlus

    ... baby with a birth defect — especially heart or genetic problems are carrying more than one baby have high blood pressure , diabetes , lupus , heart disease, ... A Week-by-Week Pregnancy Calendar Birth Plans Genetic Testing Staying Healthy During ... Having a Healthy Pregnancy Contact Us Print ...

  20. 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, ...

  1. 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.

  2. 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.

  3. 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.

  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. 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.

  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. 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.

  8. 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.

  9. 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

  10. 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.

  11. 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.

  12. 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

  13. 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

  14. 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 ...

  15. 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.

  16. [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.

  17. 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.

  18. 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, ...

  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. 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.

  1. 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

  2. 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

  3. 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.

  4. 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

  5. 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.

  6. 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.

  7. 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.

  8. 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.

  9. 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)

  10. Prenatal Genetic Counseling (For Parents)

    MedlinePlus

    ... Feeding Your 1- to 2-Year-Old Prenatal Genetic Counseling KidsHealth > For Parents > Prenatal Genetic Counseling Print ... how can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating ...

  11. 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- ...

  12. 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 ...

  13. 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

  14. 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

  15. 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.

  16. 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

  17. 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

  18. 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…

  19. 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

  20. 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

  1. 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

  2. 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

  3. 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…

  4. 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

  5. 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.

  6. 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.

  7. 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

  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. 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

  10. 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.

  11. 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.

  12. 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

  13. 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

  14. 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.

  15. 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

  16. 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.

  17. 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 ...

  18. 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.

  19. [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.

  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. 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.

  2. 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.

  3. 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 ...

  4. 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

  5. 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…

  6. [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.

  7. 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.

  8. 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.

  9. 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.

  10. 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.

  11. 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.

  12. [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.

  13. 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.

  14. 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

  15. 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

  16. [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.

  17. 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.

  18. 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.

  19. 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 ...

  20. 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

  1. [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.

  2. 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.

  3. 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.

  4. 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.

  5. [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.

  6. 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.

  7. 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.

  8. 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.

  9. [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.

  10. 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

  11. 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.

  12. 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…

  13. [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.

  14. A SONOGRAPHIC SHORT CERVIX AS THE ONLY CLINICAL MANIFESTATION OF INTRA-AMNIOTIC INFECTION

    PubMed Central

    HASSAN, SONIA; ROMERO, ROBERTO; HENDLER, ISRAEL; GOMEZ, RICARDO; KHALEK, NAHLA; ESPINOZA, JIMMY; NIEN, JYH KAE; BERRY, STANLEY M.; BUJOLD, EMMANUEL; CAMACHO, NATALIA; SOROKIN, YORAM

    2006-01-01

    OBJECTIVE A sonographically short cervix is a powerful predictor of spontaneous preterm delivery. However, the etiology and optimal management of a patient with a short cervix in the mid-trimester of pregnancy remain uncertain. Microbial invasion of the amniotic cavity (MIAC) and intra-amniotic inflammation are frequently present in patients with spontaneous preterm labor or acute cervical insufficiency. This study was conducted to determine the rate of MIAC and intra-amniotic inflammation in patients with a cervical length <25 mm in the mid-trimester. STUDY DESIGN A retrospective cohort study was conducted of patients referred to our high risk clinic because of a sonographic short cervix or a history of a previous preterm birth. Amniocenteses were performed for the evaluation of MIAC and for karyotype analysis in patients with a short cervix. Fluid was cultured for aerobic and anaerobic bacteria, as well as genital mycoplasmas. Patients with MIAC were treated with antibiotics selected by their physician. RESULTS Of 152 patients with a short cervix at 14–24 weeks, 57 had amniotic fluid analysis. The prevalence of MIAC was 9% (5/57). Among these patients, the rate of preterm delivery (<32 weeks) was 40% (2/5). Microorganisms isolated from amniotic fluid included Ureaplasma urealyticum (n=4) and Fusobacterium nucleatum (n=1). Patients with a positive culture for Ureaplasma urealyticum received intravenous Azithromycin. Three patients with Ureaplasma urealyticum had a sterile amniotic fluid culture after treatment, and subsequently delivered at term. The patient with Fusobacterium nucleatum developed clinical chorioamnionitis and was induced. CONCLUSION 1) Sub-clinical MIAC was detected in 9% of patients with a sonographically short cervix (<25 mm); and 2) maternal parenteral treatment with antibiotics can eradicate MIAC caused by Ureaplasma urealyticum. This was associated with delivery at term in the three patients whose successful treatment was documented by

  15. 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.

  16. Sonographic diagnosis of spontaneous intramural small bowel hematoma in a case of warfarin overdose.

    PubMed

    Hou, Sheng-Wen; Chen, Chien-Chih; Chen, Kuo-Chih; Ko, Shih-Yu; Wong, Chung-Shun; Chong, Chee-Fah

    2008-01-01

    A 38-year-old man who had been treated with warfarin since mitral valve replacement 10 years earlier presented with acute onset of epigastralgia and melena. Coagulation tests were abnormal with a prolonged prothrombin time of >60 seconds and a prolonged activated partial thromboplastin time of >120 seconds. Abdominal sonographic examination revealed duodenal intramural hematoma that was confirmed on CT. Warfarin therapy was stopped and the patient was treated conservatively with vitamin K and fresh frozen plasma. Recovery was uneventful, and the patient was re-warfarinized 2 weeks later. Duodenal hematoma can be readily diagnosed with bedside sonography.

  17. Ectopia cordis in a first-trimester sonographic screening program for aneuploidy.

    PubMed

    Sepulveda, Waldo; Wong, Amy E; Simonetti, Luis; Gomez, Enrique; Dezerega, Victor; Gutierrez, Jorge

    2013-05-01

    We review the sonographic features, antenatal course, and perinatal outcomes in 7 cases of ectopia cordis diagnosed in the first trimester. Four cases were associated with a large omphalocele (pentalogy of Cantrell) and 2 with a body stalk anomaly. The remaining fetus had isolated thoracic ectopia cordis. Two pregnancies were terminated; 2 fetuses died in utero; 2 infants died after delivery; and 1 died at 3 months of age. We conclude that the diagnosis of ectopia cordis can easily be established during the first trimester. In agreement with the currently available literature, the prognosis of ectopia cordis in our series was uniformly poor.

  18. Associations of sonographic abnormalities of the shoulder with various grades of biceps peritendinous effusion (BPE).

    PubMed

    Chang, Ke-Vin; Chen, Wen-Shiang; Wang, Tyng-Guey; Hung, Chen-Yu; Chien, Kuo-Liong

    2014-02-01

    Bicipital peritendinous effusion (BPE), a common ultrasonographic finding of the long head of the biceps tendon, may be associated with shoulder joint derangement, but supporting evidence from large-scale studies is lacking. The aim of this cross-sectional study was to determine the strength of the association between BPE and sonographic abnormalities of the shoulder joint. We reviewed the sonographic reports of patients with suspected shoulder disorders investigated ultrasonographically between January 2011 and January 2012. BPE was graded according to its measured thickness as absent (<1 mm), mild (1-2 mm), moderate (2-3 mm) or severe (>3 mm). The associations between BPE and sonographic abnormalities were examined using multinomial logistic regression adjusted for age, gender, affected side and clinical diagnosis of frozen shoulder. The prevalence rates of absent, mild, moderate and severe BPE among the 907 shoulders examined were 64.1%, 17.8%, 10.4% and 7.7%, respectively. Frozen shoulder was associated with mild BPE (relative risk [RR] vs. participants without BPE = 1.83, 95% confidence interval [CI] = 1.28-2.50). Sonographic findings of biceps tendinopathy, subdeltoid bursitis and full-thickness tears of the supraspinatus tendon were significantly associated with the entire spectrum of BPE, whereas subscapularis tendon tears were significantly associated with moderate (RR = 2.47, 95% CI = 1.29-4.69) and severe (RR = 3.11, 95% CI = 1.51-6.33) BPE. Severe BPE was associated with articular-sided partial-thickness tears of the supraspinatus tendon (RR = 14.32, 95% CI = 4.30-34.35), posterior recess effusion (RR, 7.98, 95% CI = 1.44-34.93) and biceps medial subluxation (RR = 7.25, 95% CI = 1.90-22.33). Our study indicates that BPE is related to various shoulder abnormalities and that the strengths of these associations depend on the severity of BPE. Clinicians encountering BPE should grade its severity and be alert for hidden lesions of

  19. Sonographic diagnosis of lateral asynclitism: a new subtype of fetal head malposition as a main determinant of early labor arrest.

    PubMed

    Ghi, T; Bellussi, F; Pilu, G

    2015-02-01

    We report on the sonographic appearance of a new type of fetal head malposition in labor that has not been previously described systematically. In some circumstances, the fetal lie is characterized by a lateral orientation of the head with respect to the trunk and, on suprapubic ultrasound, a transverse section of the fetal chest together with the facial profile can be seen on the same image. These sonographic findings were documented in five cases of first-stage labor arrest. This report illustrates how, in these circumstances, ultrasound might be helpful in clarifying the precise cause of obstructed labor.

  20. 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

  1. 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.

  2. The Tail and the String Sign: New Sonographic Features of Subcutaneous Melanoma Metastasis.

    PubMed

    Corvino, Antonio; Corvino, Fabio; Catalano, Orlando; Sandomenico, Fabio; Petrillo, Antonella

    2017-01-01

    No highly specific sonographic imaging findings to evaluate melanoma spread along the lymphatic vessels have ever been described. Between January 2009 and December 2012, a consecutive group of 531 melanoma patients at their initial stage or during follow-up for nodal or extra-nodal superficial metastasis were evaluated retrospectively to assess the presence of two sonographic findings demonstrating superficial lymphatic metastasis: a "tail" sign (a thin hypoechoic prolongation from one or both poles of a superficial metastasis) and a "string" sign (multiple in-transit lesions connected to each other in a rosary image). The total number of superficial metastatic lesions was 222. The tail sign was seen in 13 of the 222 lesions (5.9%). The string sign was detected in four patients (4.5%). These signs showed a low sensitivity with a very high specificity (100%). Tail and string signs may represent an additional finding of high specificity to be employed in the differential diagnosis of melanoma patients.

  3. In vivo and in vitro studies on the sonographical detection of Ascaris lumbricoides.

    PubMed

    Hoffmann, H; Kawooya, M; Esterre, P; Ravaoalimalala, V E; Roth, J; Thomas, A K; Roux, J; Seitz, H M; Doehring, E

    1997-03-01

    Intestinal ultrasound, a frequently applied diagnostic tool in industrialized nations, has recently also been introduced in tropical regions. This study attempts to describe the anatomical and sonographical features of Ascaris lumbricoides in the human intestine. In the course of a schistosomiasis morbidity study in Madagascar, 581 inhabitants of a rice-farming village on the high plateau of the island had their stools examined by means of a modified Kato-Katz thick smear technique (four slides per sample); 53% had eggs of Ascaris lumbricoides in their stools. Twenty-two individuals underwent intestinal ultrasound examination and, in six cases, Ascaris lumbricoides was visualized. All six patients showed eggs upon stool examination. At ultrasound, the parasite was seen as a large, curved echogenic strip (4-6 mm in diameter) with an inner, anechoic, longitudinal canal. The image resembled a winding highway, the central structure representing the pseudocoel of the parasite. Patients were treated with mebendazole. The excreted worms of one patient were scanned under water, showing the same characteristics as in vivo. We conclude that Ascaris lumbricoides has a characteristic sonographical appearance and should not be a confounding factor in studies using intestinal ultrasound.

  4. Sonographic and pathologic image analysis of pure mucinous carcinoma of the breast.

    PubMed

    Kaoku, Setsuko; Konishi, Eiichi; Fujimoto, Yasuhisa; Tohno, Eriko; Shiina, Tsuyoshi; Kondo, Kengo; Yamazaki, Sanae; Kajihara, Mariko; Shinkura, Nobuhiko; Yanagisawa, Akio

    2013-07-01

    The aims of this study were to elucidate sonographic and histologic features of pure mucinous carcinoma (P-MC) of the breast using quantitative analysis and to evaluate the relationship between quantitative analysis and visual qualitative assessment. Eleven P-MCs (nine patients) were evaluated qualitatively and quantitatively. Three experts assessed these sonographic images using the Breast Imaging Reporting and Data System (BI-RADS) lexicon. For assessment of internal echoes and posterior echoes, quantitative measures were determined using ImageJ software. Histologic thin sections were stained for classification into separate parts of the tumor (stroma, mucin and cancer cells) and were digitized. Internal echoes were isoechoic in 7 of 11 (63.6%) tumors and hypoechoic in 4 of 11 (36.4%); all P-MCs were "enhanced" in qualitative evaluation. As internal echoes increased, the proportion of stroma increased and that of mucin decreased. The high level of internal echoes is correlated with reflection and back-scattering, which are caused mainly by the interface between mucin and stroma.

  5. Sonographic and Clinical Features of Upper Extremity Deep Venous Thrombosis in Critical Care Patients

    PubMed Central

    Blaivas, Michael; Stefanidis, Konstantinos; Nanas, Serafim; Poularas, John; Wachtel, Mitchell; Cohen, Rubin; Karakitsos, Dimitrios

    2012-01-01

    Background-Aim. Upper extremity deep vein thrombosis (UEDVT) is an increasingly recognized problem in the critically ill. We sought to identify the prevalence of and risk factors for UEDVT, and to characterize sonographically detected thrombi in the critical care setting. Patients and Methods. Three hundred and twenty patients receiving a subclavian or internal jugular central venous catheter (CVC) were included. When an UEDVT was detected, therapeutic anticoagulation was started. Additionally, a standardized ultrasound scan was performed to detect the extent of the thrombus. Images were interpreted offline by two independent readers. Results. Thirty-six (11.25%) patients had UEDVT and a complete scan was performed. One (2.7%) of these patients died, and 2 had pulmonary embolism (5.5%). Risk factors associated with UEDVT were presence of CVC [(odds ratio (OR) 2.716, P = 0.007)], malignancy (OR 1.483, P = 0.036), total parenteral nutrition (OR 1.399, P = 0.035), hypercoagulable state (OR 1.284, P = 0.045), and obesity (OR 1.191, P = 0.049). Eight thrombi were chronic, and 28 were acute. We describe a new sonographic sign which characterized acute thrombosis: a double hyperechoic line at the interface between the thrombus and the venous wall; but its clinical significance remains to be defined. Conclusion. Presence of CVC was a strong predictor for the development of UEDVT in a cohort of critical care patients; however, the rate of subsequent PE and related mortality was low. PMID:22655181

  6. The patellar tendinopathy in athletes: a sonographic grading correlated to prognosis and therapy.

    PubMed

    Gemignani, Michele; Busoni, Francesco; Tonerini, Michele; Scaglione, Mariano

    2008-11-01

    The purpose of this study is to determine in the athletes a sonographic grading of the patellar tendinopathy correlated to prognosis and therapy. The 298 patellar overuse tendinopathies were divided in four grades according to the extension of the injured area of the tendon in the axial sonograms. Grades 1, 2, and 3 were managed with medical and physical therapy. A surgical treatment was performed in grade 4 and in grades 1, 2, and 3 tendinopathies not responding to our conservative therapy. There were 21.8% injuries in grade 1 (100% responding; prognosis 20 days), 61.2% injuries in grade 2 (94.5% responding; prognosis 40 days), 16.4% injuries in grade 3 (85.7% responding; prognosis 90 days), and 0.6% injuries in grade 4. The sonographic study is fundamental to characterize adequately the patellar tendinopathy. The conservative therapy is the first option for grades 1, 2, and 3 as it determines a complete healing in most of cases.

  7. A Population-Based Study of the Association of Prenatal Diagnosis With Survival Rate for Infants With Congenital Heart Defects

    PubMed Central

    Oster, Matthew E.; Kim, Christopher H.; Kusano, Aaron S.; Cragan, Janet D.; Dressler, Paul; Hales, Alice R.; Mahle, William T.; Correa, Adolfo

    2015-01-01

    Prenatal diagnosis has been shown to improve preoperative morbidity in newborns with congenital heart defects (CHDs), but there are conflicting data as to the association with mortality. We performed a population-based, retrospective, cohort study of infants with prenatally versus postnatally diagnosed CHDs from 1994 to 2005 as ascertained by the Metropolitan Atlanta Congenital Defects Program. Among infants with isolated CHDs, we estimated 1-year Kaplan-Meier survival probabilities for prenatal versus postnatal diagnosis and estimated Cox proportional hazard ratios adjusted for critical CHD status, gestational age, and maternal race/ethnicity. Of 539,519 live births, 4,348 infants had CHDs (411 prenatally diagnosed). Compared with those with noncritical defects, those with critical defects were more likely to be prenatally diagnosed (58% vs 20%, respectively, p <0.001). Of the 3,146 infants with isolated CHDs, 1-year survival rate was 77% for those prenatally diagnosed (n = 207) versus 96% for those postnatally diagnosed (n = 2,939, p <0.001). Comparing 1-year survival rate among those with noncritical CHDs alone (n = 2,455) showed no difference between prenatal and postnatal diagnoses (96% vs 98%, respectively, p = 0.26), whereas among those with critical CHDs (n = 691), prenatally diagnosed infants had significantly lower survival rate (71% vs 86%, respectively, p <0.001). Among infants with critical CHDs, the adjusted hazard ratio for 1-year mortality rate for those prenatally versus postnatally (reference) diagnosed was 2.51 (95% confidence interval 1.72 to 3.66). In conclusion, prenatal diagnosis is associated with lower 1-year survival rate for infants with isolated critical CHDs but shows no change for those with isolated noncritical CHDs. More severe disease among the critical CHD subtypes diagnosed prenatally might explain these findings. PMID:24472597

  8. 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

  9. 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

  10. 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.

  11. Prenatal screening: when and for whom?

    PubMed

    Holtzman, N A

    1990-01-01

    This report discusses the role of prenatal screening in preventing congenital abnormalities or, when prevention is not possible, in avoiding the conception or the birth of those who would have untreatable abnormalities. Women who are found by screening not to be immune to rubella can be safely vaccinated prior to pregnancy; those found to be at risk of having children with genetic disorders such as Tay-Sachs disease or thalassemia have the option of avoiding the conception of affected offspring. Screening during pregnancy permits the primary prevention of Rh disease and its sequelae when it results in the prophylactic administration of Rh-immune globulin to unsensitized Rh-negative women. Maternal serum alpha-fetoprotein screening identifies pregnant women who are at increased risk of carrying fetuses with neural tube defects or Down's syndrome, giving them the option of avoiding the birth of affected fetuses through abortion. Recombinant DNA technology will permit screening for many more genetic disorders as the disease-related genes and mutations are identified. For many of these disorders, the ability to predict the risk of disease will antedate preventive and therapeutic interventions by many years. During this lag phase, issues concerning the validity of the tests, the severity of the conditions for which screening is offered, the safety of the interventions, and the autonomy of the pregnant women in deciding to be screened are important.

  12. 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.

  13. Gelatin-agar lumbosacral spine phantom: a simple model for learning the basic skills required to perform real-time sonographically guided central neuraxial blocks.

    PubMed

    Li, Jia Wei; Karmakar, Manoj K; Li, Xiang; Kwok, Wing Hong; Ngan Kee, Warwick Dean

    2011-02-01

    This report describes the preparation of a gelatin-agar spine phantom that was used for spinal sonography and to practice the hand-eye coordination skills required to perform sonographically guided central neuraxial blocks. The phantom was prepared by embedding a lumbosacral spine model into a mixture of gelatin and agar in a plastic box. Cellulose powder and chlorhexidine were also added to the mixture, after which it was allowed to solidify. Sonography of the osseous elements of the lumbosacral spine in the phantom was then performed, and their sonographic appearances were compared to those in volunteers. Simulated real-time sonographically guided paramedian spinal needle insertions were also performed in the phantom. The texture and echogenicity of the phantom were subjectively comparable to those of tissue in vivo. The osseous elements of the spine in the phantom were clearly delineated, and their sonographic appearances were comparable to those seen in vivo in the volunteers. During the simulated sonographically guided spinal injections, the needle could be clearly visualized, but the phantom provided little tactile feedback. In conclusion, the gelatin-agar spine phantom is a simple and inexpensive sonographic spine model that has a tissuelike texture and echogenicity. It can be used to study the osseous anatomy of the lumbar spine and practice the skills required to perform sonographically guided central neuraxial blocks.

  14. Sonographic Evaluation of the Splenic Length in Normal Pregnancy in a Tertiary Hospital in Southern Nigeria: A Pilot Study

    PubMed Central

    Ugboma, EW; Ugboma, HAA

    2013-01-01

    Background: The spleen is affected by the changes that occur in pregnancy. Ultrasound is the commonest imaging modality used in the evaluation of the abdominal organs in pregnancy; however, there is a paucity of information on the sonographic measurement of the splenic length in normal pregnancy in our environment. Aim: To establish sonographically the range of splenic length in normal pregnant women. Subjects and Methods: A prospective descriptive cross sectional study of the sonographic measurements of the splenic length was performed on 150 healthy normal pregnant women correlating this with the body mass index, gestational age and parity. Data were analyzed using software SPSS version 15 (SPSS Inc., Chicago, IL, USA). Correlations and variance between variables were calculated. P values 0.05 were considered as significant. Results: A mean splenic length of 10.0 cm (SD) 1.8 throughout pregnancy was obtained with a range of 9.7-10.3 cm. The splenic length significantly correlated positively with the body mass index (r = 0.006, P < 0.01) but not with parity (r = 0.94, P < 0.01), and gestational age (r = 0.31, P < 0.01). Conclusion: This study was able to establish a range of sonographic measurement of the splenic length for the locality. PMID:24116308

  15. [Prenatal diagnosis. I: Prenatal diagnosis program at the Medical Genetics Unit of the Universidad de Zulia, Maracaibo, Venezuela].

    PubMed

    Prieto-Carrasquero, M; Molero, A; Carrasquero, N; Paz, V; González, S; Pineda-Del Villar, L; Del Villar, A; Rojas-Atencio, A; Quintero, M; Fulcado, W; Mena, R; Morales-Machin, A

    1998-06-01

    The Prenatal Diagnosis Program of the Medical Genetic Unit of University of Zulia has the following objectives: Identification of Genetic Risk Factors (GRF) in those couples who attend to the Prenatal Genetic Clinic, application of different prenatal diagnostic procedures (PDP), and providing adequate genetic counseling. The goal of this paper is to show preliminary results obtained between January 1993 and December 1996. Three hundred and twenty one pregnant women were analyzed by determining the GRF and taking into account the genetic clinical history. The GRF analyzed were: Advanced maternal age (AMA), congenital malformation history (CMH), previous child with chromosomic anomalies (PCCA), defects of neural tube history (DNTH), congenital heart disease history (CHDH), any parent carrier of chromosomic anomaly (PCA), habitual abortion (HA), abnormal fetal echography (AFE), altered maternal serum levels of alpha-feto-protein (AMSAFP) and OTHERS: exposure to teratogenic agents, history of Mendelian diseases, maternal systemic diseases and anxiety in the mother or in her partner. The PDP was designed according to the GRF, which included fetal echography (FE), fetal echocardiography (FEc), amniocentesis (AMN), chordocentesis (CCT) and AMSAFP. Results showed that 58.4% of the expectant mothers asked for counseling during the 2nd trimester, 70% of the total showed only one GRF, and AMA was the most frequent GRF found (40.3%), followed by PCCA, AFE, CHDH, HA, DNTH, PCA, and OTHERS in that order. The specific PDP applied to the identified GRF allowed a health evaluation of the fetus. The GRF identification gave the opportunity of establishing a Prenatal Diagnostic Program producing a response to the couple's needs and showed the utility of an integral and multidisciplinary management directed to any expecting mother in order to identify any high GRF.

  16. 'New parenting', psychotherapy, prenatal and perinatal care.

    PubMed

    Dowling, Terence

    2007-01-01

    The health of future generations, both physical and psychological, depends upon good parental and early environment, free particularly from malnutrition, toxins and undue stress. Education about these negative influences is urgent, especially to encourage childbearing women in a healthy diet and lifestyle. The detrimental effects of cigarette smoking in pregnancy have been known since the 1970s, yet in Germany, for example, 60% of all children are conceived, carried, born into a household where at least one adult smokes. Even if the father desists from smoking at home, the nicotine in his body tissues is transmitted to anyone near him, for example his wife when they sleep near each other. More than one glass of beer, wine or spirits per week during the pregnancy can be detected at birth. Alcohol in early in the pregnancy--just when many mothers are unaware they are pregnant--an produce significant physical malformation, especially in the face. Prenatal exposure to alcohol has signilfcant effects on the intelligence and behaviour of the child. Many of these children are very restless. Even slight amounts of poisoning during the pregnancy are related to the development of a negative self-image and the compensatory behaviour of the Narcissistic Personality Disorder in later life. The Prenatal Deprivation and Poisoning Syndromes have not only been related to heart disease and eating disorders in the area of general health but also in the area of psychological health to the Borderline Personality Disorder. Undue stress of any kind during the pregnancy leads to problems for the developing child.

  17. [Prenatal discovery of Joubert syndrome associated with small bowel volvulus].

    PubMed

    Aurégan, C; Donciu, V; Millischer, A-E; Khen-Dunlop, N; Deloison, B; Sonigo, P; Magny, J-F

    2016-03-01

    Joubert syndrome and prenatal volvulus are difficult to diagnose during pregnancy. Joubert syndrome and related diseases should be considered in case of prenatal abnormal features of the fourth ventricle. Small bowel volvulus is also a surgical emergency because of the risk of intestinal necrosis before or after delivery. This type of condition justifies the transfer of pregnant women to a specialized hospital where the newborn may receive appropriate care. We report the case of a 31-week and 4-day gestational-age fetus in whom intrauterine growth retardation and small-bowel volvulus were diagnosed. Additional imaging revealed associated Joubert syndrome. This highlights the need for regular ultrasound monitoring during pregnancy and the comanagement of obstetricians and pediatricians to provide appropriate care before and after delivery.

  18. Sex differences in prenatal epigenetic programming of stress pathways.

    PubMed

    Bale, Tracy L

    2011-07-01

    Maternal stress experience is associated with neurodevelopmental disorders including schizophrenia and autism. Recent studies have examined mechanisms by which changes in the maternal milieu may be transmitted to the developing embryo and potentially translated into programming of the epigenome. Animal models of prenatal stress have identified important sex- and temporal-specific effects on offspring stress responsivity. As dysregulation of stress pathways is a common feature in most neuropsychiatric diseases, molecular and epigenetic analyses at the maternal-embryo interface, especially in the placenta, may provide unique insight into identifying much-needed predictive biomarkers. In addition, as most neurodevelopmental disorders present with a sex bias, examination of sex differences in the inheritance of phenotypic outcomes may pinpoint gene targets and specific windows of vulnerability in neurodevelopment, which have been disrupted. This review discusses the association and possible contributing mechanisms of prenatal stress in programming offspring stress pathway dysregulation and the importance of sex.

  19. Prenatal Diagnosis and Pregnancy Outcome Analysis of Polyhydramnios.

    PubMed

    Liu, Li-Ling; Pang, Li-Hong; Deng, Bi-Ye

    2016-01-01

    The aim of the study was to investigate the etiology and pregnancy outcomes in mothers with polyhydramnios through prenatal diagnosis and pregnancy outcome analysis of pregnant women with polyhydramnios. One hundred and thirty women were enrolled. Fifty pregnant women with polyhydramnios were categorized as the case group, and 80 pregnant women with normal amniotic fluid were categorized as the control group. The causes of polyhydramnios and the pregnancy outcomes were analyzed. Two cases had chromosomal abnormalities, seven had severe α-thalassemia, 15 had fetal anomalies, four had maternal-fetal diseases and 22 had unexplained idiopathic polyhydramnios. Significantly, higher occurrences of cesarean section, preterm birth, fetal anomaly, fetal distress, fetal macrosomia and female fetuses occurred in patients with polyhydramnios than in patients without polyhydramnios. Polyhydramnios is associated with a higher occurrence of adverse perinatal outcomes. Intensive monitoring of the maternal-fetal condition and prenatal diagnosis is important in patients with polyhydramnios.

  20. Prenatal factors associated with autism spectrum disorder (ASD).

    PubMed

    Ornoy, A; Weinstein-Fudim, L; Ergaz, Z

    2015-08-15

    Autism spectrum disorder (ASD) affecting about 1% of all children is associated, in addition to complex genetic factors, with a variety of prenatal, perinatal and postnatal etiologies. We discuss the known associated prenatal factors affecting the fetus throughout pregnancy; whenever relevant, also summarize some animal data. Among the maternal diseases in pregnancy associated with ASD are pregestational and/or gestational diabetes mellitus (PGDM, GDM), maternal infections (i.e. rubella, cytomegalovirus (CMV)), prolonged fever and maternal inflammation, which cause changes in a variety of inflammatory cytokines. Among the drugs are valproic acid, thalidomide, and possibly misoprostol and serotonin reuptake inhibitors (SSRIs). Associations were described with ethanol, and possibly cocaine, heavy metals heavy smoking and Folic acid deficiency. Heavy exposure to pesticides and air pollution during pregnancy was recently associated with ASD. We need more epidemiologic data to establish many of these associations; if proven, they might be promising avenues for prevention.

  1. Management of Intrauterine Arteriovenous Malformation (AVM) in 14 Patients by Sonographically Guided Tisseel Application.

    PubMed

    Bandura, P; Rawnaq, T; Holzknecht, A; Cetin, E; Reemts, P; Zoi, P; Schwärzler, P

    2015-11-13

    Purpose: AVMs are rare tumorous vascular lesions derived from placental tissue that may present with massive post-partum hemorrhage (PPH) causing potentially life-threatening anemic shock. Current treatment options include the embolization of uterine arteries and emergency postpartum hysterectomy. We present a new form of minimally invasive, highly specific sonographically guided treatment in the form of the application of a human fibrin sealant leading to the instant cease of blood loss. Materials and Methods: A management protocol was established and a case series of 14 patients is presented. Diagnosis by endovaginal color Doppler sonography is followed by the sonographically guided application of biological glue (TISSEEL(®)), thus allowing for super-selective occlusion of the feeding vessels. Results: The procedure was technically successful in all 14 patients, 3 of whom (21 %) had a repeated procedure after 4 - 7 days. The mean age (yrs.) of the patients was 31 (25 - 40), the gravity was median 2 (1 - 5) and the parity was median 1 (0 - 4), the lowest Hb value was on average 9.35 ± 2.25 (5.2 - 14.2) g/dl, the lowest Ht was on average 30.82 ± 6.02 (18 - 41 %). Spectral Doppler analysis revealed an average of 80.71 ± 11.2 (66 - 115) cm/sec for the maximal detectable PSV. In the period of 4 - 55 months after treatment, 7 patients (50 %) had 8 successful pregnancies and 2 miscarriages. Conclusion: In PPH there is vital interest in timely diagnosis of the underlying cause, thus allowing fertility-sparing, minimally invasive and super-selective emergency treatment. In AVMs causing PPH, a positive impact on perinatal morbidity and mortality may be achieved by sonographically guided application of this biological glue.

  2. Prenatal counselling and the role of the paediatric surgeon.

    PubMed

    Benachi, Alexandra; Sarnacki, Sabine

    2014-10-01

    With the development of prenatal ultrasound and of foetal medicine, the paediatric surgeon has extended his knowledge of the natural history of surgical malformations. He is a part of the prenatal team and parents should always be referred to him when a surgical malformation is suspected, even when termination of pregnancy is planned because of an expected poor prognosis. Direct contact between the prenatal medicine specialist and the paediatric surgeon is also highly recommended to ensure continuity in the messages delivered to the parents. Postnatal counselling does not compare with prenatal counselling, and the paediatric surgeon has learned from the obstetrician to modulate his talk by including other conditions that might affect the outcome of the foetus, especially genetically determined syndromes. When the foetal malformation is diagnosed very early, especially in the first trimester, it therefore seems important for the consultation with the paediatric surgeon to be scheduled when the complementary exams required by the anomalies diagnosed are done, in order to avoid later contradictory messages. Repeated consultations should be favoured as they allow provision of more precise information regarding changes in ultrasound and/or MRI images and so decrease parents׳ anxiety and help them to take their decision. Foetal surgery, which has reached various stages of development in different countries, requires paediatric surgeons and obstetricians to join forces to optimise procedures and evaluate their benefit/risk ratio. Since 2004, the National Rare Disease Plan in France has allowed the creation of Rare Disease Centres, which deal with congenital malformations and produce recommendations for the health care pathway of these patients by means of a multidisciplinary approach. This greatly enhances interdisciplinary communication and ensures that best care is provided to the parents-to-be and to their child.

  3. Conceptions of Prenatal Development: Behavioral Embryology

    ERIC Educational Resources Information Center

    Gottlieb, Gilbert

    1976-01-01

    Describes recent progress in research on prenatal behavioral development and in a systematic fashion the various ways in which prenatal experience can affect the development of behavior in the neonate as well as in the embryo and fetus. (Author/RK)

  4. Prenatal exclusion of the HHH syndrome.

    PubMed

    Gray, R G; Green, A; Hall, S; McKeown, C

    1995-05-01

    Prenatal diagnosis of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria syndrome is described by the analysis of ornithine incorporation in second-trimester cultured amniotic fluid cells. An unaffected fetus was predicted and confirmed in the newborn child. This is the third reported prenatal diagnosis for this disorder and the second predicting an unaffected fetus.

  5. Prenatal Yoga: What You Need to Know

    MedlinePlus

    ... promote your baby's health? Before you start prenatal yoga, understand the range of possible benefits, as well as what a typical class entails ... centering and focused breathing. Research suggests that prenatal yoga is safe ... many benefits for pregnant women and their babies. Research suggests ...

  6. Prenatal Maternal Stress Programs Infant Stress Regulation

    ERIC Educational Resources Information Center

    Davis, Elysia Poggi; Glynn, Laura M.; Waffarn, Feizal; Sandman, Curt A.

    2011-01-01

    Objective: Prenatal exposure to inappropriate levels of glucocorticoids (GCs) and maternal stress are putative mechanisms for the fetal programming of later health outcomes. The current investigation examined the influence of prenatal maternal cortisol and maternal psychosocial stress on infant physiological and behavioral responses to stress.…

  7. Primary Pupils' Preconceptions about Child Prenatal Development

    ERIC Educational Resources Information Center

    Zoldosova, Kristina; Prokop, Pavol

    2007-01-01

    The research deals a problem of primary pupils' preconceptions about a child prenatal development. Even the pupils cannot experience the phenomenon and can get only mediate information; their idea about the prenatal development is quite well constructed. The quality of the preconceptions depends mainly upon variety of informational sources kept at…

  8. Sonographic tracking of trunk nerves: essential for ultrasound-guided pain management and research

    PubMed Central

    Chang, Ke-Vin; Lin, Chih-Peng; Lin, Chia-Shiang; Wu, Wei-Ting; Karmakar, Manoj K; Özçakar, Levent

    2017-01-01

    Delineation of architecture of peripheral nerves can be successfully achieved by high-resolution ultrasound (US), which is essential for US-guided pain management. There are numerous musculoskeletal pain syndromes involving the trunk nerves necessitating US for evaluation and guided interventions. The most common peripheral nerve disorders at the trunk region include thoracic outlet syndrome (brachial plexus), scapular winging (long thoracic nerve), interscapular pain (dorsal scapular nerve), and lumbar facet joint syndrome (medial branches of spinal nerves). Until now, there is no single article systematically summarizing the anatomy, sonographic pictures, and video demonstration of scanning techniques regarding trunk nerves. In this review, the authors have incorporated serial figures of transducer placement, US images, and videos for scanning the nerves in the trunk region and hope this paper helps physicians familiarize themselves with nerve sonoanatomy and further apply this technique for US-guided pain medicine and research. PMID:28115867

  9. Bilateral bloody nipple discharge in a male infant: sonographic findings and proposed diagnostic approach.

    PubMed

    Djilas-Ivanovic, Dragana; Boban, Jasmina; Katanic, Dragan; Ivkovic-Kapicl, Tatjana; Lucic, Milos Alexandar

    2012-01-01

    Bloody nipple discharge is an uncommon finding in the pediatric population, without clear diagnostic and therapeutic guidelines established. We noted a case of a 3-month-old male infant who presented with bilateral blood-stained nipple discharge, with unremarkable medical history. Sonographic findings revealed bilaterally dilated ducts and cysts with mixed iso- and hypoechoic intraductal content. Possible causes of this condition include hyperlaxity syndrome with decreased function of elastic fibers and fibrocystic changes in breasts, and unusual response to maternal hormones, transferred to the neonate either transplacentally or through breastfeeding. Given the most probable benign etiology and self-limiting nature of the described condition, a conservative approach is suggested. Unnecessary invasive procedures should be avoided.

  10. Not all radiopaque foreign bodies shadow on ultrasound: unexpected sonographic appearance of a radiopaque magnet.

    PubMed

    Shiu-Cheung Chan, Sherwin; Russell, Marybeth; Ho-Fung, Victor M

    2014-12-01

    Foreign body ingestion is a common indication for imaging children. Ultrasound can be a useful adjunct to serial radiographs for evaluation of foreign bodies in the enteric tract. This case report describes a child who swallowed a single magnetic rock. Follow-up radiographs 4 days later could not determine progression of the foreign body beyond the stomach. Ultrasound was used to locate it, showing a structure with unexpected posterior reverberation artifact in the stomach. This was correlated with a similar magnet in a water bath demonstrating identical reverberation artifact. This report discusses the underlying factors for the different sonographic appearances and associated ultrasound artifacts of foreign bodies. This knowledge is important when performing sonography as adjunct modality for identification of foreign bodies in the gastrointestinal tract.

  11. Ground-truthing 6. 5-kHz side scan sonographs: What are we really imaging

    SciTech Connect

    Gardner, J.V.; Field, M.E.; Lee, H.; Edwards, B.E. ); Masson, D.G.; Kenyon, N. ); Kidd, R.B. )

    1991-04-10

    A 1,000-km{sup 2} area on the distal lobe of Monterey Fan shows a digitate pattern of juxtaposed high and low backscatter on GLORIA side scan sonographs. This area was investigated using stereo photography, high-resolution seismic profiles, and measurements of physical properties of cores to quantitatively evaluate the causes of backscatter from the 6.5-kHz side scan sonar. Stereo photography and bottom video were used to determine that the sediment-water interface typically has a bed roughness less than 10 cm over the entire ground truth area; consequently, bed roughness is not a significant contributor to the sonar backscatter. Vertical-incidence 3.5-kHz profiles reveal that high-backscatter areas allow less penetration and have slightly more relief than low-backscatter areas. Closely spaced measurements of {rho} wave velocity, density, and grain size made on transponder-navigated cores are used to investigate the geoacoustic properties of the sediment with the aid of a numerical model. The model results demonstrate that the sediment-water interface is, in most cases, acoustically transparent to the sonar energy and that most or all of the energy is refracted into the sediment to depths of at least a few meters rather than scattered from the surface. In this area, thick (up to 50 cm) sand deposits with thin interbeds of silty clay correlate with lower backscatter than do silty clay deposits with thin interbeds of sand. This suggests that volume inhomogeneities and complex constructive and destructive interferences caused by the subsurface volume inhomogeneities within the top few meters of the sediment ultimately modulate the intensity of backscatter. Although 6.5-kHz sonographs appear easy to interpret in a conventional and simplistic manner, caution should be used when interpreting lithofacies from backscatter intensities.

  12. Medicaid reimbursement, prenatal care and infant health.

    PubMed

    Sonchak, Lyudmyla

    2015-12-01

    This paper evaluates the impact of state-level Medicaid reimbursement rates for obstetric care on prenatal care utilization across demographic groups. It also uses these rates as an instrumental variable to assess the importance of prenatal care on birth weight. The analysis is conducted using a unique dataset of Medicaid reimbursement rates and 2001-2010 Vital Statistics Natality data. Conditional on county fixed effects, the study finds a modest, but statistically significant positive relationship between Medicaid reimbursement rates and the number of prenatal visits obtained by pregnant women. Additionally, higher rates are associated with an increase in the probability of obtaining adequate care, as well as a reduction in the incidence of going without any prenatal care. However, the effect of an additional prenatal visit on birth weight is virtually zero for black disadvantaged mothers, while an additional visit yields a substantial increase in birth weight of over 20 g for white disadvantaged mothers.

  13. Prenatal microwave exposure and behavior

    SciTech Connect

    O'Connor, M.E.

    1988-01-01

    The hypotheses for the initial investigation was based on the idea that failure to observe structural teratogenesis following microwave exposure did not preclude the possibility that such exposure would result in behavioral changes. We also proposed that such exposure might specifically alter some aspect of thermoregulatory behavior. The results of these studies support both of these hypotheses. Whether the studies show enhanced thermal sensitivity or enhanced development, they do support the hypothesis that prenatal exposure to microwave radiation is more likely to alter postnatal sensitivity to thermally related stimuli or conditions as compared to stimuli that are thermally neutral.

  14. Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

    PubMed Central

    Reisch, Nicole; Idkowiak, Jan; Hughes, Beverly A.; Ivison, Hannah E.; Abdul-Rahman, Omar A.; Hendon, Laura G.; Olney, Ann Haskins; Nielsen, Shelly; Harrison, Rachel; Blair, Edward M.; Dhir, Vivek; Krone, Nils; Shackleton, Cedric H. L.

    2013-01-01

    Context: Mutations in the electron donor enzyme P450 oxidoreductase (POR) result in congenital adrenal hyperplasia with apparent combined 17α-hydroxylase/17,20 lyase and 21-hydroxylase deficiencies, also termed P450 oxidoreductase deficiency (PORD). Major clinical features present in PORD are disordered sex development in affected individuals of both sexes, glucocorticoid deficiency, and multiple skeletal malformations. Objective: The objective of the study was to establish a noninvasive approach to prenatal diagnosis of PORD including assessment of malformation severity to facilitate optimized prenatal diagnosis and timely treatment. Design: We analyzed 20 pregnancies with children homozygous or compound heterozygous for disease-causing POR mutations and 1 pregnancy with a child carrying a heterozygous POR mutation by recording clinical and biochemical presentations and fetal ultrasound findings. In 4 of the pregnancies (3 homozygous and 1 heterozygous for disease-causing POR mutations), prenatal analysis of steroid metabolite excretion in maternal urine was carried out by gas chromatography/mass spectrometry during gestational weeks 11–23. Results: Pregnancy complications in our cohort included maternal virilization (6 of 20) with onset in the second trimester. Seven pregnant women presented with low unconjugated estriol at prenatal screening (triple or quadruple antenatal screening test). Overt dysmorphic features were noted in 19 of the 20 babies at birth but observed in only 5 by prenatal ultrasound. These 5 had the most severe malformation phenotypes and poor outcome, whereas the other babies showed normal development. Steroid profiling of maternal urine revealed significantly increased steroids of fetal origin, namely the pregnenolone metabolite epiallopregnanediol and the androgen metabolite androsterone, with concomitant low values for estriol. Diagnostic steroid ratios conclusively indicated PORD as early as gestational week 12. In the heterozygous

  15. Prenatal arsenic exposure and drowning among children in Bangladesh

    PubMed Central

    Rahman, Mahfuzar; Sohel, Nazmul; Kumar Hore, Samar; Yunus, Mohammad; Bhuiya, Abbas; Kim Streatfield, Peter

    2015-01-01

    There is increasing concern regarding adverse effects of prenatal arsenic exposure on the neurodevelopment of children. We analyzed mortality data for children, who were born to 11,414 pregnant women between 2002 and 2004, with an average age of 5 years of follow-up. Individual drinking-water arsenic exposure during pregnancy was calculated using tubewell water arsenic concentration between last menstrual period and date of birth. There were 84 drowning deaths registered, with cause of death ascertained using verbal autopsy (International Classification of Diseases, 10th revision, codes X65–X70). The prenatal water arsenic exposure distribution was tertiled, and the risk of drowning mortality was estimated by Cox proportional hazard models, adjusted for potential confounders. We observed a significant association between prenatal arsenic exposure and drowning in children aged 1–5 years in the highest exposure tertile (HR=1.74, 95% CI: 1.03–2.94). This study showed that in utero arsenic exposure might be associated with excess mortality among children aged 1–5 years due to drowning. PMID:26511679

  16. Neonatal Metabolomic Profiles Related to Prenatal Arsenic Exposure.

    PubMed

    Laine, Jessica E; Bailey, Kathryn A; Olshan, Andrew F; Smeester, Lisa; Drobná, Zuzana; Stýblo, Miroslav; Douillet, Christelle; García-Vargas, Gonzalo; Rubio-Andrade, Marisela; Pathmasiri, Wimal; McRitchie, Susan; Sumner, Susan J; Fry, Rebecca C

    2017-01-03

    Prenatal inorganic arsenic (iAs) exposure is associated with health effects evident at birth and later in life. An understanding of the relationship between prenatal iAs exposure and alterations in the neonatal metabolome could reveal critical molecular modifications, potentially underpinning disease etiologies. In this study, nuclear magnetic resonance (NMR) spectroscopy-based metabolomic analysis was used to identify metabolites in neonate cord serum associated with prenatal iAs exposure in participants from the Biomarkers of Exposure to ARsenic (BEAR) pregnancy cohort, in Gómez Palacio, Mexico. Through multivariable linear regression, ten cord serum metabolites were identified as significantly associated with total urinary iAs and/or iAs metabolites, measured as %iAs, %monomethylated arsenicals (MMAs), and %dimethylated arsenicals (DMAs). A total of 17 metabolites were identified as significantly associated with total iAs and/or iAs metabolites in cord serum. These metabolites are indicative of changes in important biochemical pathways such as vitamin metabolism, the citric acid (TCA) cycle, and amino acid metabolism. These data highlight that maternal biotransformation of iAs and neonatal levels of iAs and its metabolites are associated with differences in neonate cord metabolomic profiles. The results demonstrate the potential utility of metabolites as biomarkers/indicators of in utero environmental exposure.

  17. Prenatal diagnosis in multiple pregnancy.

    PubMed

    Taylor, M J; Fisk, N M

    2000-08-01

    Fetal abnormality is more common in multiple than in singleton pregnancies. This, together with the requirement to consider the risks with at least two babies to sample correctly each fetus and to undertake accurately-targeted selective termination, amounts to a major challenge for obstetricians involved in prenatal diagnosis. Early determination of chorionicity should be routine, since this influences not only the genetic risks but also the invasive procedure chosen for karyotyping or genotyping. Assessment of nuchal translucency identifies individual fetuses at risk of trisomy. Contrary to expectation, invasive procedures in twins appear to have procedure-related miscarriage rates that are similar to those in singletons. Instead, contamination remains a concern at chorionic villus sampling. Elective late karyotyping of fetuses may have a role in some countries. Whereas management options for discordant fetal abnormality are relatively straightforward in dichorionic pregnancies, monochorionic pregnancies are at risk of co-twin sequelae after any single intrauterine death. Techniques have now been developed to occlude completely the cord vasculature by laser and/or ultrasound guided bipolar diathermy. Given the complexities associated with prenatal diagnosis, all invasive procedures in multiple pregnancies should be performed in tertiary referral centres.

  18. Renal disease in pregnancy ambulatory issues.

    PubMed

    Phelan, Sharon T

    2012-09-01

    Acute and chronic renal disease will complicate prenatal care. Normal physiological changes during pregnancy make the urinary tract system more vulnerable to infectious complications or worsening of preexisting disease. Much of the focus of prenatal care includes screening for these concerns both at the onset of prenatal care and through the pregnancy and postpartum course. With careful and attentive care, the pregnancy outcome for women with significant renal disease has improved and the occurrence of renal injury or obstetric complications due to infectious insults has decreased. This manuscript reviews the current ambulatory prenatal care as it relates to the urinary tract in pregnancy.

  19. Prenatal and pre-implantation genetic diagnosis.

    PubMed

    Vermeesch, Joris Robert; Voet, Thierry; Devriendt, Koenraad

    2016-09-15

    The past decade has seen the development of technologies that have revolutionized prenatal genetic testing; that is, genetic testing from conception until birth. Genome-wide single-cell arrays and high-throughput sequencing analyses are dramatically increasing our ability to detect embryonic and fetal genetic lesions, and have substantially improved embryo selection for in vitro fertilization (IVF). Moreover, both invasive and non-invasive mutation scanning of the genome are helping to identify the genetic causes of prenatal developmental disorders. These advances are changing clinical practice and pose novel challenges for genetic counselling and prenatal care.

  20. Ethical issues in prenatal diagnosis.

    PubMed

    Johnson, S R; Elkins, T E

    1988-06-01

    Prenatal diagnosis raises complex ethical issues not only in terms of individual decision making, but also in the development of clinical services and the formulation of public policy regarding access and funding. The motivation behind prenatal diagnosis is generally to provide the family with information regarding the pregnancy so that the outcome can be improved or, in the case of severely affected pregnancies, a decision can be made about pregnancy termination. Although many of the ethical issues involved in prenatal diagnosis and treatment overlap those common to all types of diagnostic procedures, the former situation is complicated by controversy about the moral status of the fetus and the use of selective abortion as a form of treatment. While there is general agreement that pregnancy termination after the 2nd trimester can be justified if the fetus is afflicted with a condition that is incompatible with postnatal survival or characterized by the virtual absence of cognitive functioning, the disposition of a fetus afflicted with a non-life-threatening physical or mental disability (e.g., Down's syndrome) is more controversial. An additional concern is that women with positive screening test results may choose elective abortion rather than undergo a definitive work-up. The issue of maternal versus fetal rights is perhaps the single most controversial dilemma. Here, the basic ethical dilemma is the conflict between respecting maternal autonomy versus acting beneficently toward the fetus. As a general rule, the more invasive the medical technique and the less certain the benefit to the fetus (e.g., laparotomy), the more difficult it is to make a convincing argument for forced interventions involving the mother's body. Situations in which compelling arguments can be made for forced interventions against the will of the mother are those where an otherwise healthy infant will die without immediate intervention or failure to perform a procedure will result in the

  1. Prevalence of syphilis in pregnancy and prenatal syphilis testing in Brazil: Birth in Brazil study

    PubMed Central

    Domingues, Rosa Maria Soares Madeira; Szwarcwald, Celia Landmann; Souza, Paulo Roberto Borges; Leal, Maria do Carmo

    2014-01-01

    OBJECTIVE Determine the coverage rate of syphilis testing during prenatal care and the prevalence of syphilis in pregnant women in Brazil. METHODS This is a national hospital-based cohort study conducted in Brazil with 23,894 postpartum women between 2011 and 2012. Data were obtained using interviews with postpartum women, hospital records, and prenatal care cards. All postpartum women with a reactive serological test result recorded in the prenatal care card or syphilis diagnosis during hospitalization for childbirth were considered cases of syphilis in pregnancy. The Chi-square test was used for determining the disease prevalence and testing coverage rate by region of residence, self-reported skin color, maternal age, and type of prenatal and child delivery care units. RESULTS Prenatal care covered 98.7% postpartum women. Syphilis testing coverage rate was 89.1% (one test) and 41.2% (two tests), and syphilis prevalence in pregnancy was 1.02% (95%CI 0.84;1.25). A lower prenatal coverage rate was observed among women in the North region, indigenous women, those with less education, and those who received prenatal care in public health care units. A lower testing coverage rate was observed among residents in the North, Northeast, and Midwest regions, among younger and non-white skin-color women, among those with lower education, and those who received prenatal care in public health care units. An increased prevalence of syphilis was observed among women with < 8 years of education (1.74%), who self-reported as black (1.8%) or mixed (1.2%), those who did not receive prenatal care (2.5%), and those attending public (1.37%) or mixed (0.93%) health care units. CONCLUSIONS The estimated prevalence of syphilis in pregnancy was similar to that reported in the last sentinel surveillance study conducted in 2006. There was an improvement in prenatal care and testing coverage rate, and the goals suggested by the World Health Organization were achieved in two regions. Regional

  2. Current evaluation of sonography of the meniscus. Results of a comparative study of sonographic and arthroscopic findings.

    PubMed

    Casser, H R; Sohn, C; Kiekenbeck, A

    1990-01-01

    Sonography of the knee has gained in significance in the diagnosis of the meniscus; experimental and clinical studies have demonstrated that the normal and pathological anatomy of the meniscus can be visualized on a sonogram. The aim of this comparative investigation is to evaluate sonographic lesion diagnosis in comparison with arthroscopic findings, using a standardized examination method. Two hundred and six knee joints were first scanned sonographically using a 7.5 MHz sector transducer. The examining doctor had neither anamnestic nor clinical information in advance. On the following day, the joints were examined arthroscopically, without the findings of the day before being available to the examiner. When the findings were compared, the sensitivity of sonographic diagnosis of lesions was found to be 82.2% and its specificity 87.6%. The patients were of varying ages and had varying anamneses. The results show that sonography of the meniscus is a valuable diagnostic help when the knee-joint symptoms are not clear, given that the correct technical equipment and sufficient experience with this form of examination are at hand. The advantage of sonography is that, in contrast to arthroscopy, it is noninvasive and easily available.

  3. Prenatal cannibalism in an insect

    NASA Astrophysics Data System (ADS)

    de Vries, Thomas; Lakes-Harlan, Reinhard

    2007-06-01

    Host selection and infection strategies of parasitoids often correlate with high parental investment and low numbers of progeny. In this study, we investigate how additional internal mechanisms might shape brood size and fitness of the offspring. Emblemasoma auditrix is a parasitoid fly in which about 38 larvae hatch simultaneously in utero. After host location, a single larva is deposited into the host, where it rapidly develops and pupates after about 5 days. The search for hosts can take several weeks, and during that time, the larvae arrest their development and remain in the first larval instar. Nevertheless, the larvae increase in weight within the uterus, and this growth correlates to a decrease in the number of larvae, although no larvae are deposited. Thus, our data indicate a first case of prenatal cannibalism in an invertebrate with larvae feeding on each other within the uterus of the adult.

  4. [Scientific and practical aspects of prenatal diagnosis].

    PubMed

    Baranov, V S

    2003-01-01

    Prenatal diagnostics (PD) is a relatively new branch of medical genetics enjoining presently a rapid practical and scientific progress. The key practical issues related with detecting the pregnant women at high risk of fetal congenital and inherited pathologies have already been solved, and a variety of fetal examinations by non-invasive (ultrasound) and invasive (cytogenetics, biochemistry and molecular tests) methods have been elaborated. Their practical application are totally dependant on the managerial and financial input in the discussed field of medicine. Further advancement in PD are tensely associated with early pregnancy stages (trimester 1), with the molecular diagnostic tools in the diagnosis of chromosomal diseases and with a comprehensive use of Pregnancy Genetic Form worked out and used already at our institute. DP opens up the promising opportunities for analyzing the human genome activity at the initial development stages, which comprises the revision of previously-obtained data on the cytogenetics of human embryo evolution, human chromosomes' functioning and of temporary embryonic organs as observed during the mentioned stages; it also comprises an analysis and application of umbilical and embryonic cells (embryonic cell therapy) and elaboration of scientific fundamentals for embryonic gene therapy. PD should not be referred to only as a set of diagnostic methods for it is also a good starting-ground for research of human embryo-genesis.

  5. Fetal cerebrovascular circulation: a review of prenatal ultrasound assessment.

    PubMed

    Degani, S

    2008-01-01

    Antenatal intrauterine cerebrovascular events were found to play an important role in the pathogenesis of perinatal brain damage. Changes in placental vascular resistance, cardiac contractibility, vessel compliance, and blood viscosity alter the normal dynamics of fetal cerebral circulation. The circulatory mechanisms described in animal fetuses also operate in the human fetus. The isthmus of the aorta represents a watershed area reflecting the redistribution of blood during increased peripheral resistance and hypoxia. The fetal cerebrovascular system acts locally within the skull and interacts with the other components of fetal circulation to compensate by redistribution of blood in case of shortage in resources. The introduction of various sonographic techniques and the collection of data from the arterial and venous cerebral circulation have improved our understanding of the regulatory mechanisms involved in fetal cerebral hemodynamic events. Anatomical and physiological considerations of cerebral vasculature in health and disease are relevant in the research of variations in fetal brain blood perfusion. Changes in flow characteristics in fetal cerebral vasculature can be used for clinical decisions. However, caution is advised before applying research data into practice. The clinical utility is well established in situations of fetal compromise such as growth restriction and anemia.

  6. Prenatal poly(i:C) exposure and other developmental immune activation models in rodent systems.

    PubMed

    Meyer, Urs

    2014-02-15

    It is increasingly appreciated that altered neuroimmune mechanisms might play a role in the development of schizophrenia and related psychotic illnesses. On the basis of human epidemiological findings, a number of translational rodent models have been established to explore the consequences of prenatal immune activation on brain and behavioral development. The currently existing models are based on maternal gestational exposure to human influenza virus, the viral mimic polyriboinosinic-polyribocytidilic acid [Poly(I:C)], the bacterial endotoxin lipopolysaccharide, the locally acting inflammatory agent turpentine, or selected inflammatory cytokines. These models are pivotal for establishing causal relationships and for identifying cellular and molecular mechanisms that affect normal brain development in the event of early-life immune exposures. An important aspect of developmental immune activation models is that they allow a multi-faceted, longitudinal monitoring of the disease process as it unfolds during the course of neurodevelopment from prenatal to adult stages of life. An important recent refinement of these models is the incorporation of multiple etiologically relevant risk factors by combining prenatal immune challenges with specific genetic manipulations or additional environmental adversities. Converging findings from such recent experimental attempts suggest that prenatal infection can act as a "neurodevelopmental disease primer" that is likely relevant for a number of chronic mental illnesses. Hence, the adverse effects induced by prenatal infection might reflect an early entry into the neuropsychiatric route, but the specificity of subsequent disease or symptoms is likely to be strongly influenced by the genetic and environmental context in which the prenatal infectious process occurs.

  7. Segmental Maternal UPD6 with Prenatal Growth Restriction.

    PubMed

    Poke, G; Doody, M; Prado, J; Gattas, M

    2013-01-01

    We report a child with segmental maternal uniparental isodisomy of chromosome 6, involving most of the long arm distal to 6q16, detected by SNP microarray. Clinical features include prenatal growth restriction, global developmental delay, and severe gastro-esophageal reflux disease. Maternal uniparental disomy (UPD) of chromosome 6 has previously been reported to cause intrauterine growth restriction. Paternal UPD of this chromosome is well known to cause transient neonatal diabetes mellitus. We discuss reported cases of maternal UPD of chromosome 6 and consider whether our patient's features may be due to disordered imprinting or unmasking of an autosomal recessive condition.

  8. Segmental Maternal UPD6 with Prenatal Growth Restriction

    PubMed Central

    Poke, G.; Doody, M.; Prado, J.; Gattas, M.

    2013-01-01

    We report a child with segmental maternal uniparental isodisomy of chromosome 6, involving most of the long arm distal to 6q16, detected by SNP microarray. Clinical features include prenatal growth restriction, global developmental delay, and severe gastro-esophageal reflux disease. Maternal uniparental disomy (UPD) of chromosome 6 has previously been reported to cause intrauterine growth restriction. Paternal UPD of this chromosome is well known to cause transient neonatal diabetes mellitus. We discuss reported cases of maternal UPD of chromosome 6 and consider whether our patient's features may be due to disordered imprinting or unmasking of an autosomal recessive condition. PMID:23599697

  9. Karyotype analysis with amniotic fluid in 12365 pregnant women with indications for genetic amniocentesis and strategies of prenatal diagnosis.

    PubMed

    Xiao, H; Yang, Y L; Zhang, C Y; Liao, E J; Zhao, H R; Liao, S X

    2016-01-01

    We explored the strategies of prenatal diagnosis by foetal karyotype analysis in pregnant women with indications for genetic amniocentesis. Karyotype analysis of amniotic fluid was performed on 12365 pregnant women with indications for genetic amniocentesis. The detection rates and distributions of abnormal karyotypes were observed in a variety of indications for genetic amniocentesis. The detection rates of abnormal karyotype were 57.4% in either a mother or father with chromosomal abnormality, 8.5% in the pregnant women with pathological ultrasound finding (PUF), 2.79% in the pregnant women with advanced age (35 years and over) and 2.23% in the women with abnormal maternal serum screening (MSS) tests. Foetal abnormal karyotype was found in 86 pregnant women with PUF; of the 86 pregnant women, 42 had trisomy 13, 18 or 21. Of the 12365 pregnant women, foetal abnormal karyotype was found in 428 (3.46%); of the 428 foetuses, only 154 had trisomy 13, 18 or 21. In the pregnant women with abnormal MSS, 111 foetuses had abnormal karyotype, but only 36 foetuses had trisomy 13, 18 or 21. We conclude that (1) ultrasound is an important approach to prevent the birth of foetuses with chromosomal disease. (2) Non-invasive prenatal DNA detection cannot completely replace invasive prenatal diagnosis and MSS. (3) The strategies of prenatal diagnosis: Genetic amniocentesis is strongly recommended for the pregnant women with indications for genetic amniocentesis. For pregnant women who refuse invasive prenatal diagnosis, non-invasive prenatal DNA detection is first performed. If the results of non-invasive prenatal DNA detection are negative, the pregnant women are followed up by ultrasound; if the results of non-invasive prenatal DNA detection are positive, the pregnant women should undergo invasive prenatal diagnosis.

  10. Sacrococcygeal teratoma: prenatal diagnosis and management.

    PubMed

    Gross, S J; Benzie, R J; Sermer, M; Skidmore, M B; Wilson, S R

    1987-02-01

    Although sacrococcygeal teratoma is a rare and potentially malignant tumor, 10 cases were documented during a 5-year period at the University of Toronto Perinatal Complex. Diagnosis was made in the six cases in which prenatal ultrasound examination was performed. One patient with twins elected to terminate the pregnancy at 19 weeks. In three of the cases diagnosed prenatally, serial ultrasound was performed. There was a 75% cesarean section rate. In all cases diagnosed prenatally, the large tumor size affected the mode of delivery. In the four cases without prenatal diagnosis, two infants were delivered vaginally, and two were delivered abdominally for obstetric reasons. There was one case of neonatal morbidity where tumor vascularity and rupture resulted in hypovolemic shock. All tumors were resected and found to be benign. A plan of management is recommended and, with appropriate obstetric and pediatric care, a good outcome can be anticipated in most cases.

  11. Prenatal Testing: MedlinePlus Health Topic

    MedlinePlus

    ... Predictive Accuracy of Serial Transvaginal Cervical Lengths and Quantitative Vaginal... Article: A possible new approach in the ... Institutes of Health The primary NIH organization for research on Prenatal Testing is the National Institute of ...

  12. Ethical Considerations Relating to Prenatal Diagnosis of Fetuses with Down Syndrome.

    ERIC Educational Resources Information Center

    Pueschel, Siegfried M.

    1991-01-01

    Prenatal diagnostic procedures that can determine the existence of genetic diseases or chromosome disorders such as Down's syndrome are described, and legal considerations are outlined. Arguments for and against aborting fetuses with Down's syndrome are presented, and the need for genetic counseling for prospective parents is emphasized.…

  13. The Prevalence of and Risk Factors Associated with Musculoskeletal Disorders among Sonographers in Central China: A Cross-Sectional Study

    PubMed Central

    Feng, Qingmin; Liu, Shenglin; Yang, Lei; Xie, Mingxing

    2016-01-01

    Objective Studies from industrialized countries show that musculoskeletal disorders (MSD) occur commonly in sonographers. However, little is known about sonographers in China, where the awareness of ergonomics and MSD, workload, and available equipment/facilities may differ. We aimed to investigate the prevalence of MSD and associated risk factors in sonographers in central China. Methods A cross-sectional survey was conducted with 381 sonographers from 14 randomly selected tertiary hospitals in Hubei province, central China. Musculoskeletal symptoms (using the Nordic Questionnaire) and risk factors (mostly derived from the Health Benefit Trust survey instrument and the Dutch Musculoskeletal Questionnaire) were recorded. Multivariate logistic regression was used to quantify associations between risk factors and MSD. Results The 12-month period prevalence of MSD was 98.3%, being highest in the neck (93.5%) and shoulder (92.2%), followed by the lower back (83.2%), wrist/hand, upper back, and elbow. Factors contributing to neck pain were psychological fatigue, shoulder abduction and trunk bend-and-twist posture. Height-adjustable tables and chairs were protective factors. Shoulder pain was associated with female sex, health status, mental stress, shoulder abduction, and trunk bend-and-twist posture. Height-adjustable chairs and the awareness of adjusting the workstation before scanning were protective factors. Elbow pain was associated with health status and height-adjustable tables. Wrist/hand pain was associated with female sex, bending the wrist, and working with obese patients. Upper back pain was associated with shoulder abduction, height-adjustable chairs, and device location. Lower back pain was associated with the number of scans performed per day, awkward postures, bending the trunk, twisting or bending the neck forward, and using a footrest. Conclusions This study suggests a high prevalence of MSD in sonographers in central China. Hence, it is necessary to

  14. Family structure and use of prenatal care.

    PubMed

    Alves, Elisabete; Silva, Susana; Martins, Simone; Barros, Henrique

    2015-06-01

    This cross-sectional study intended to assess the use of prenatal care according to the family structure in a population with free universal access to prenatal care. In 2005-2006, the Portuguese birth cohort was assembled by the recruitment of puerperae at public maternity wards in Porto, Portugal. In the current analysis, 7,211 were included. Data on socio-demographic characteristics, obstetric history, and prenatal care were self-reported. Single mothers were considered as those whose household composition did not include a partner at delivery. Approximately 6% of the puerperae were single mothers. These women were more likely to have an unplanned pregnancy (OR = 6.30; 95%CI: 4.94-8.04), an inadequate prenatal care (OR = 2.30; 95%CI: 1.32-4.02), and to miss the ultrasound and the intake of folic acid supplements during the first trimester of pregnancy (OR = 1.71; 95%CI: 1.30-2.27; and OR = 1.67; 95%CI: 1.32-2.13, respectively). The adequacy and use of prenatal care was less frequent in single mothers. Educational interventions should reinforce the use and early initiation of prenatal care.

  15. [Access to dental care during prenatal assistance].

    PubMed

    dos Santos Neto, Edson Theodoro; Oliveira, Adauto Emmerich; Zandonade, Eliana; Leal, Maria do Carmo

    2012-11-01

    This study sought to evaluate the self-perceived response to dental care during prenatal assistance in the Unified Health System (SUS) in the Metropolitan Region of Vitória, Espírito Santo, Brazil. 1032 postpartum women were interviewed and 1006 prenatal records copied. Postpartum women's self-perceived response was measured by the Oral Health Index Profile-14. When an impact was identified, dental care rendered in educational, preventive and curative terms was considered adequate. When there was no impact, assistance was considered adequate in educational and preventive terms. The Chi-square test revealed an association between prenatal care and dental care. Oral health impact on quality of life was 14.7%. Dental care received by mothers in educational terms was rated at 41.3%, while in preventive terms it was 21% and in curative terms it was 16.6%. Six or more prenatal appointments coupled with educational activities was closely associated with adequate dental care (p < 0.05). Access to dental care is facilitated when pregnant women attend health services and become involved in educational activities during the prenatal period. Consequently, educational measures appear to indicate an improvement in prenatal care in the SUS.

  16. Prenatal diagnosis of 45,X/46,XX

    SciTech Connect

    Hsu, L.Y.F.

    1996-03-01

    I read with great interest the paper on {open_quotes}Prenatal Diagnosis of 45,X/46,XX mosaicism and 45,X: Implications for Postnatal Outcome{close_quotes} by Koeberl et al. They reported their experience with 12 prenatally diagnosed cases of 45,X/46,XX mosaicism and made a clinical comparison between those 12 cases and their own 41 postnatally diagnosed cases of 45,X/46,XX mosaicism. As expected, they found an overall milder phenotypic manifestation in the prenatal cases than in the postnatal ones. These authors report a lack of previous prognostic information on this type of prenatally diagnosis of mosaicism and offer their findings to fill this need. However, considerable information on this topic has been published. There have been >200 prenatally diagnosed cases of 45,X/46,XX. According to my data on 189 cases with a prenatal diagnosis of 45,X/46,XX mosaicism (Hsu 1992), there are 114 cases with available information on phenotypic outcome. Of these, 12 (10.5%) were reported to have some features of Turner syndrome, 4 had other anomalies probably not related to Turner syndrome, and 2 resulted in stillbirth. The overall rate for an abnormal phenotype in this category was thus 16/114 (14.03%). However, we must realize that, even in patients with a nonmosaic 45,X complement, the major features of Turner syndrome, such as short stature and sexual infantilism, are manifested only later in childhood or in adolescence. 3 refs.

  17. Developmental programming: Interaction between prenatal BPA and postnatal overfeeding on cardiac tissue gene expression in female sheep.

    PubMed

    Koneva, L A; Vyas, A K; McEachin, R C; Puttabyatappa, M; Wang, H-S; Sartor, M A; Padmanabhan, V

    2017-01-01

    Epidemiologic studies and studies in rodents point to potential risks from developmental exposure to BPA on cardiometabolic diseases. Furthermore, it is becoming increasingly evident that the manifestation and severity of adverse outcomes is the result of interaction between developmental insults and the prevailing environment. Consistent with this premise, recent studies in sheep found prenatal BPA treatment prevented the adverse effects of postnatal obesity in inducing hypertension. The gene networks underlying these complex interactions are not known. mRNA-seq of myocardium was performed on four groups of four female sheep to assess the effects of prenatal BPA exposure, postnatal overfeeding and their interaction on gene transcription, pathway perturbations and functional effects. The effects of prenatal exposure to BPA, postnatal overfeeding, and prenatal BPA with postnatal overfeeding all resulted in transcriptional changes (85-141 significant differentially expressed genes). Although the effects of prenatal BPA and postnatal overfeeding did not involve dysregulation of many of the same genes, they affected a remarkably similar set of biological pathways. Furthermore, an additive or synergistic effect was not found in the combined treatment group, but rather prenatal BPA treatment led to a partial reversal of the effects of overfeeding alone. Many genes previously known to be affected by BPA and involved in obesity, hypertension, or heart disease were altered following these treatments, and AP-1, EGR1, and EGFR were key hubs affected by BPA and/or overfeeding. Environ. Mol. Mutagen. 58:4-18, 2017. © 2016 Wiley Periodicals, Inc.

  18. Exposure to Prenatal Smoking and Early-life Body Composition: The Healthy Start Study

    PubMed Central

    Harrod, Curtis S; Fingerlin, Tasha E; Chasan-Taber, Lisa; Reynolds, Regina M; Glueck, Deborah H; Dabelea, Dana

    2014-01-01

    Objective To examine associations between exposure to prenatal smoking and early-life changes in fat mass (FM), fat-free mass (FFM) and anthropometrics. Design and Methods We analyzed 670 mother-offspring pairs in the longitudinal Healthy Start study. Maternal smoking data were collected during prenatal research visits. Offspring body composition and size were measured by air displacement plethysmography at delivery and postnatal follow-up (5 months) visits. Results Comparing exposed and unexposed offspring, exposure to prenatal smoking was significantly associated with reduced neonatal FM (P = 0.007) and FFM (P = 0.02). In contrast, at 5 months, exposed offspring had comparable FM (P = 0.61) and FFM (P = 0.41). After subsequent adjustment for birth weight, offspring exposed to prenatal smoking had significantly greater FFM (154.7 g, 0.5, 309.0; P = 0.049) and sum of skinfolds (2.7 mm: 0.06, 5.3; P = 0.04). From delivery to follow-up, exposed offspring had significantly greater increases in FFM (156.4 g, 2.8, 310.1; P = 0.046) and sum of skinfolds (2.7 mm, 0.06, 5.3; P = 0.04), even after adjustment for respective delivery measures. Conclusions Exposure to prenatal smoking was significantly associated with rapid postnatal growth, which may increase the offspring’s risk of metabolic diseases. PMID:25385660

  19. Stereological analysis of cornu ammonis in prenatally stressed rats: a heuristic neurodevelopmental model of schizophrenia

    PubMed Central

    Hosseini-sharifabad, Mohammad; Sabahi, Abdoreza

    2014-01-01

    Objective(s): The hippocampus has been implicated in pathophysiology of schizophrenia. Prenatal stress is a contributing risk factor for a wide variety of neuropsychiatric diseases including schizophrenia. This study examined long-term effects of prenatal restraint stress on the stereological parameters in the Cornu Ammonis (CA) of adult male rats as an animal model of schizophrenia. Materials and Methods: Wistar pregnant dams in experimental group were stressed in a cylindrical Plexiglas restrainer daily for 1 hr during last week of gestation. Controls remained in the animal room and were exposed only to normal animal room conditions. At 2 months of age, the volume of the pyramidal cell layer of the CA, the numerical density and the somal volume of the respective neurons were assessed in the male offspring generated from stressed and control pregnancies. Cavalieri's principle, physical disector and nucleator were applied for stereological analyses. Results: This study showed that prenatal stress significantly decreased the volume of CA3 pyramidal cell layer and the individual somal volume of CA3 pyramidal neurons. However, there were no markedly differences in the numerical density, total number of CA3 pyramidal neurons and stereological parameters in CA1 of prenatally stressed and control animals. Conclusion: These data indicate that prenatal stress exposure induced neuronal changes in the CA3 subfield of hippocampus which are similar to what is observed in schizophrenia. PMID:24847421

  20. Prenatal Programming of Mental Illness: Current Understanding of Relationship and Mechanisms

    PubMed Central

    Bale, Tracy L.; Epperson, C. Neill

    2015-01-01

    The British epidemiologist Dr. David J. Barker documented the relationship between infant birth weight and later onset of hypertension, coronary heart disease, insulin resistance, and type II diabetes. A stressful in utero environment can cause long-term consequences for offspring through prenatal programming. Prenatal programming most commonly occurs through epigenetic mechanisms and can be dependent on the type and timing of exposure as well as the sex of the fetus. In this review, we highlight the most recent evidence that prenatal programming is implicated in the development of psychiatric disorders in offspring exposed to maternal stress during pregnancy. Methodological differences between studies contribute to unavoidable heterogeneity in study findings. Current data suggest that fetal exposure to maternal hypothalamic-pituitary-adrenal axis dysregulation, excessive glucocorticoids, and inflammation with resulting epigenetic changes at both the placental and fetal levels are important areas of continued investigation. PMID:25617041

  1. Attitudes of young adults to prenatal screening and genetic correction for human attributes and psychiatric conditions.

    PubMed

    Milner, K K; Collins, E E; Connors, G R; Petty, E M

    1998-03-05

    With recent advances in DNA technology, questions have arisen as to how this technology should be appropriately used. In this article, results obtained from a survey designed to elicit attitudes of college students to prenatal testing and gene therapy for human attributes and psychiatric conditions are reported. The eleven hypothetical disease phenotypes included schizophrenia, alcoholism, tendency toward violent behavior, attention deficit/hyperactivity disorder, depression requiring medical treatment, obesity, involvement in "dangerous" sports activities, homosexuality, borderline normal IQ (80-100), proportional short stature, and inability to detect perfect pitch. Most students supported prenatal genetic testing for psychiatric disorders and behavior that might result in harm to others (i.e., tendency towards violent behavior) and found prenatal genetic testing for human attributes less desirable. However, the lack of unilateral agreement or disagreement toward any one condition or attribute suggests the potential difficulties ahead in the quest for guidelines for the application of new technologies available to manipulate the human genome.

  2. Role of renal sympathetic nerve activity in prenatal programming of hypertension.

    PubMed

    Baum, Michel

    2016-03-21

    Prenatal insults, such as maternal dietary protein deprivation and uteroplacental insufficiency, lead to small for gestational age (SGA) neonates. Epidemiological studies from many different parts of the world have shown that SGA neonates are at increased risk for hypertension and early death from cardiovascular disease as adults. Animal models, including prenatal administration of dexamethasone, uterine artery ligation and maternal dietary protein restriction, result in SGA neonates with fewer nephrons than controls. These models are discussed in this educational review, which provides evidence that prenatal insults lead to altered sodium transport in multiple nephron segments. The factors that could result in increased sodium transport are discussed, focusing on new information that there is increased renal sympathetic nerve activity that may be responsible for augmented renal tubular sodium transport. Renal denervation abrogates the hypertension in programmed rats but has no effect on control rats. Other potential factors that could cause hypertension in programmed rats, such as the renin-angiotensin system, are also discussed.

  3. Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature

    PubMed Central

    Tanemoto, Tomohiro; Nagata, Chie; Okamoto, Aikou

    2016-01-01

    Agnathia is a rare disease characterized by the absence of a mandible. Few cases of prenatally diagnosed isolated agnathia have been reported. We present a case report and review of the literature of prenatally diagnosed agnathia. A 38-year-old woman (gravida 0, para 0) was referred to our hospital at 28 weeks and 3 days of gestation for fetal evaluation because of polyhydramnios and suspected facial anomalies. Three-dimensional ultrasonography and MRI indicated agnathia. Premature rupture of the membranes occurred before the parents could reach a decision on the postnatal treatment. We performed emergency cesarean section on the second day of the 33rd week of gestation. The neonate was deemed nonresuscitable and he died of airway obstruction shortly after birth. Because agnathia is associated with very poor prognosis, accurate prenatal diagnosis and detailed counseling should be promptly provided before unexpected delivery to the parents for the determination of postnatal treatment. PMID:27579201

  4. Sonographic Lobe Localization of Alveolar-Interstitial Syndrome in the Critically Ill

    PubMed Central

    Stefanidis, Konstantinos; Dimopoulos, Stavros; Kolofousi, Chrysafoula; Cokkinos, Demosthenes D.; Chatzimichail, Katerina; Eisen, Lewis A.; Wachtel, Mitchell; Karakitsos, Dimitrios; Nanas, Serafim

    2012-01-01

    Introduction. Fast and accurate diagnosis of alveolar-interstitial syndrome is of major importance in the critically ill. We evaluated the utility of lung ultrasound (US) in detecting and localizing alveolar-interstitial syndrome in respective pulmonary lobes as compared to computed tomography scans (CT). Methods. One hundred and seven critically ill patients participated in the study. The presence of diffuse comet-tail artifacts was considered a sign of alveolar-interstitial syndrome. We designated lobar reflections along intercostal spaces and surface lines by means of sonoanatomy in an effort to accurately localize lung pathology. Each sonographic finding was thereafter grouped into the respective lobe. Results. From 107 patients, 77 were finally included in the analysis (42 males with mean age = 61 ± 17 years, APACHE II score = 17.6 ± 6.4, and lung injury score = 1.0 ± 0.7). US exhibited high sensitivity and specificity values (ranging from over 80% for the lower lung fields up to over 90% for the upper lung fields) and considerable consistency in the diagnosis and localization of alveolar-interstitial syndrome. Conclusions. US is a reliable, bedside method for accurate detection and localization of alveolar-interstitial syndrome in the critically ill. PMID:22645669

  5. Comparison of Perineal Sonographically Measured and Functional Urodynamic Urethral Length in Female Urinary Incontinence

    PubMed Central

    Janetzki, Nadine; Kennes, Lieven; Stickeler, Elmar; Serno, Julia; Behrendt, Julia

    2016-01-01

    Objectives. To detect the anatomical insufficiency of the urethra and to propose perineal ultrasound as a useful, noninvasive tool for the evaluation of incontinence, we compared the anatomical length of the urethra with the urodynamic functional urethral length. We also compared the urethral length between continent and incontinent females. Methods. 149 female patients were enrolled and divided into four groups (stress, urge, or mixed incontinence; control). Sonographically measured urethral length (SUL) and urodynamic functional urethral length (FUL) were analyzed statistically. Standardized and internationally validated incontinence questionnaire ICIQ-SF results were compared between each patient group. Results. Perineal SUL was significantly longer in incontinent compared to continent patients (p < 0.0001). Pairwise comparison of each incontinent type (stress, urge, or mixed incontinence) with the control group showed also a significant difference (p < 0.05). FUL was significantly shorter in incontinent patients than in the control group (p = 0.0112). But pairwise comparison showed only a significant difference for the stress incontinence group compared with the control group (p = 0.0084) and not for the urge or mixed incontinent group. No clear correlation between SUL, FUL, and ICIQ-SF score was found. Conclusions. SUL measured by noninvasive perineal ultrasound is a suitable parameter in the assessment of female incontinence, since incontinent women show a significantly elongated urethra as a sign of tissue insufficiency, independent of the type of incontinence. PMID:27819004

  6. Surgeon-performed sonographic findings in a traumatic trans-anal rectal perforation

    PubMed Central

    2011-01-01

    Early diagnosis and active management of trans-anal rectal injuries is essential for a favorable outcome. Intraperitoneal free air (IFA) is usually diagnosed by an erect Chest X-ray. Point-of-care ultrasound has been recently used to detect IFA. We report a 45-year-old male who presented to the Emergency Department with lower abdominal peritonitis. Surgeon-performed portable point-of-care ultrasound as an extension of the abdominal examination revealed an inflamed omentum with hypoechoic stranding, thickened non compressible small bowel, and free fluid in the pelvis. A transverse abdominal section of the right upper quadrant showed free intraperitoneal air. Rectal examination revealed a longitudinal rectal tear. Laparotomy has confirmed the sonographic findings. There was a 12 cm intraperitoneal tear of the anterior wall of the rectum which was necrotic. This case clearly demonstrates that portable point-of-care ultrasound gives very useful detailed information even when performed by a non radiologist. Surgeons should be encouraged to use point-of-care ultrasound after appropriate training. PMID:21838859

  7. Enlarged parathyroid glands with variable sonomorphology in a case of tertiary hyperparathyroidism: Sonographic-histopathologic correlation

    PubMed Central

    Aswani, Yashant; Dhume, Varsha; Varma, Ravi; Saifi, Shenaz

    2016-01-01

    The typical sonomorphology of homogeneously hypoechoic texture of an enlarged parathyroid gland (PG) is a reflection of uniform arrangement of the parathormone-producing chief cells. A variable cellular arrangement, hemorrhage, fibrosis, and adipocytes cause heterogeneous appearance. We describe a case of a 32-year-old male, a case of tertiary hyperparathyroidism, with increased serum parathormone levels, hypercalcemia, and enlargement of all four PGs, albeit with differing morphology. The left lower gland had two nodules, namely, superior and inferior. The inferior nodule of the left lower gland had an echogenic core surrounded by a sonolucent rim whereas the superior nodule was homogenously hyoechoic. The left upper gland had an echopattern exactly reverse of the inferior nodule of the left lower PG, i.e., hypoechoic gland surrounded by hyperechoic periphery. The appearance of the right-sided glands was that of the superior nodule of the left lower PG. On histopathology, the hypoechoic areas corresponded to numerous chief cells and congested vessels whereas edema gave rise to an increase in echogenicity. This report exemplifies atypical sonographic appearances of PG and their histopathologic correlation. PMID:28104949

  8. Solo Sonographically Guided PCNL under Spinal Anesthesia: Defining Predictors of Success

    PubMed Central

    Nouralizadeh, Akbar; Pakmanesh, Hamid; Basiri, Abbas; Aayanifard, Mohammad; Soltani, Mohammad Hossein; Tabibi, Ali; Sharifiaghdas, Farzaneh; Ziaee, Seyed Amir Mohsen; Shakhssalim, Naser; Valipour, Reza; Narouie, Behzad; Radfar, Mohammad Hadi

    2016-01-01

    Aim. Sonography has been brought in percutaneous nephrolithotripsy (PCNL) as an adjunct to or substitute for X-ray to restrict radiation exposure. This study was designed to investigate the possible predictors for the success of the solo sonographically guided PCNL. Methods. 148 consecutive cases were prospectively enrolled. All steps of PCNL were performed solely with sonography guidance under spinal anesthesia. Residual stones were evaluated the day after surgery using sonography and plain radiography. Results. The mean age was 46 ± 15 years; 40% of kidneys had hydronephrosis. The mean stone burden was 504 ± 350 mm2. The mean duration of surgery was 43 ± 21 minutes. The early stone-free rate was 92% in inferior or middle calyceal stones, 89.5% in single pelvic stones, 81.5% in partial staghorn stones, and 61.9% in staghorn stones. The mean residual stone size was 13 ± 8 mm. Logistic regression showed that a lower age and a larger stone burden significantly predicted positive residual stones. Fifteen percent of patients presented with grade I or II and six percent showed grade III complication based on Clavien classification. There was no cases of organ injury or death. Conclusion. Solo ultrasonographically guided PCNL under spinal anesthesia is feasible with an acceptable stone-free rate and complication rate. PMID:27242949

  9. Access Barriers to Prenatal Care in Emerging Adult Latinas.

    PubMed

    Torres, Rosamar

    2016-03-01

    Despite efforts to improve access to prenatal care, emerging adult Latinas in the United States continue to enter care late in their pregnancies and/or underutilize these services. Since little is known about emerging adult Latinas and their prenatal care experiences, the purpose of this study was to identify actual and perceived prenatal care barriers in a sample of 54 emerging adult Latinas between 18 and 21 years of age. More than 95% of the sample experienced personal and institutional barriers when attempting to access prenatal care. Results from this study lend support for policy changes for time away from school or work to attend prenatal care and for group prenatal care.

  10. Prenatal death in Fraser syndrome.

    PubMed

    Comstock, Jessica M; Putnam, Angelica R; Opitz, John M; Pysher, Theodor J; Szakacs, Juliana

    2005-01-01

    Cryptophthalmos may be partial or complete, unilateral or bilateral, apparently nonsyndromal or syndromal. A recent study of 2 stillborn infants at the University of Utah prompted an analysis of the developmental aspects of the syndromal form (Fraser syndrome). We conclude that, per se, cryptophthalmos is a developmental field defect on the basis of heterogeneity (autosomal dominant and recessive forms) and phylogeneity (occurrence also in the pheasant, rabbit, pigeon, dog, and mouse). In humans this autosomal recessive disorder maps to 4q21, is homologous to the bleb (bl/bl) mouse, and is due to mutations in the FRAS1 gene that codes for a 4007 amino acid protein 85% identical to the Fras1 gene of the bleb mouse. Commonest anomalies in humans are cryptophthalmos, cutaneous syndactyly of digits, abnormal ears and genitalia, renal agenesis, and congenital heart defects. Almost half of affected infants are stillborn or die in infancy, and mental retardation is common. The pathogenesis evidently involves abnormal epithelial integrity during prenatal life. Older (mostly German) publications, some dating to the 19th century, provide a fascinating historical insight into the process of syndrome delineation.

  11. Prenatal nipple conditioning for breastfeeding.

    PubMed

    Atkinson, L D

    1979-01-01

    Twenty-two primigravida women who planned to breastfeed began conditioning their nipples six weeks before their expected delivery date by nipple rolling twice a day for two minutes each time; providing gentle friction against the nipple with a terry cloth towel for 15 seconds once a day; and nipple airing for two hours a day, allowing outer clothing to rub against the nipple. Each woman served as her own control, conditioning one nipple but not the other. No nipple ointments or soap were used on either nipple during the course of the study. Each woman was given instructions on breastfeeding techniques to be used after delivery. The women completed two checklists: One revealed how consistently they followed the nipple-conditioning regime; with the other, they rated nipple pain on each breast, for every nursing, during the first five days postdelivery. Ratings were: 1--negligible pain or no pain, 2--definite pain, 3--extreme pain. Seventeen women successfully completed the study. Effect of skin color on the amount of nipple pain was also investigated. The prenatal nipple-conditioning regime significantly reduced the amount of total nipple pain experienced during the first few days of breastfeeding. The amount of extreme pain experienced on the conditioned nipple was significantly (p less than .01) reduced compared to the control nipple. Fair-skinned women reported more nipple soreness on unconditioned nipples, and olive-complected women reported significantly (p less than .01) less nipple soreness on unconditioned nipples.

  12. Callosal agenesis followed postnatally after prenatal diagnosis.

    PubMed

    Imataka, George; Nakagawa, Eiji; Kuwashima, Shigeko; Watanabe, Hiroshi; Yamanouchi, Hideo; Arisaka, Osamu

    2006-09-01

    Callosal agenesis is a congenital brain anomaly caused by embryonal hypogenesis of the corpus callosum. Concerning the neurological prognosis, epilepsy and motor disturbance are noted in some cases, while many cases are asymptomatic and the prognosis is good. We report a fetus tentatively diagnosed with hydrocephaly on prenatal echo-encephalography, which was performed without adequate explanation to and understanding of the parents. The parents had not expected an abnormality before the screening, and were subsequently not psychologically prepared for the discovery of the congenital brain anomaly on imaging. Moreover, they received no guidance on how to deal with any possible abnormalities. The pregnant mother was referred to our hospital. Prenatal MRI was performed after informed consent was obtained, and the fetus was diagnosed with callosal agenesis. The patient was followed for 5 years, and neurological development was normal. However, the parents have remained anxious while raising the child. Thus, the prenatal diagnosis of callosal agenesis in this case caused unnecessary mental burden to the parents. Here, we report the course of the case, and discuss the way prenatal ultrasonography should be used as a prenatal screening method, and the importance of counseling before the test.

  13. Prenatal and newborn screening for hemoglobinopathies.

    PubMed

    Hoppe, C C

    2013-06-01

    The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin and beta-globin genes. Increased immigration of high-risk populations has prompted the implementation of prenatal and newborn screening programs for hemoglobinopathies across Europe and North America. In Canada, the UK, and other European countries, prenatal screening to identify hemoglobinopathy carriers and offer prenatal diagnostic testing to couples at risk is linked to newborn screening, while in the United States, it is still not universally performed. The structure of screening programs, whether prenatal or postnatal, universal or selective, varies greatly among these countries and within the United States. The laboratory methods used to identify hemoglobinopathies are based on the prevalence of hemoglobinopathies within the population and the type of screening performed. Advances in molecular testing have facilitated the diagnosis of complex thalassemias and sickling disorders observed in ethnically diverse populations. This review summarizes the current approaches and methods used for carrier detection, prenatal diagnosis, and newborn screening.

  14. Access, quality and costs of prenatal diagnosis.

    PubMed

    Izquierdo, Luis A; Berkshire, Steven

    2010-01-01

    The background risk of birth defects ranges from 2 to 5%. These birth defects are responsible for 30% of all admissions to pediatric hospitals and are responsible for a large proportion of neonatal and infant deaths. Medicine and Genetics have taken giant steps in their ability to detect and treat genetic disorders in utero. Screening tests for prenatal diagnosis should be offered to all pregnant women to assess their risk of having a baby with a birth defect or genetic disorder. Psychosocial and financial factors, inadequate insurance coverage, and the inability to pay for health care services are some of the known barriers to healthcare. These barriers are particularly magnified when there is a language barrier. From an economical standpoint it has been demonstrated that prenatal diagnosis has the potential of saving millions of dollars to our healthcare system. But when patients do not have the resources to access prenatal care and prenatal diagnosis cost shifting occurs, escalating healthcare costs. Our current healthcare system promotes inequalities in its delivery. With the existing barriers to access, quality, and costs of prenatal diagnosis we are confronted with an inefficient and flawed system.

  15. Prenatal Testosterone and Preschool Disruptive Behavior Disorders.

    PubMed

    Roberts, Bethan A; Martel, Michelle M

    2013-11-01

    Disruptive Behaviors Disorders (DBD), including Oppositional-Defiant Disorder (ODD) and Attention-Deficit/Hyperactivity Disorder (ADHD), are fairly common and highly impairing childhood behavior disorders that can be diagnosed as early as preschool. Prenatal exposure to testosterone may be particularly relevant to these early-emerging DBDs that exhibit a sex-biased prevalence rate favoring males. The current study examined associations between preschool DBD symptom domains and prenatal exposure to testosterone measured indirectly via right 2D:4D finger-length ratios. The study sample consisted of 109 preschool-age children between ages 3 and 6 (64% males;72% with DBD) and their primary caregivers. Primary caregivers completed a semi-structured interview (i.e., Kiddie Disruptive Behavior Disorder Schedule), as well as symptom questionnaires (i.e., Disruptive Behavior Rating Scale, Peer Conflict Scale); teachers and/or daycare providers completed symptom questionnaires and children provided measures of prenatal testosterone exposure, measured indirectly via finger-length ratios (i.e., right 2D:4D). Study results indicated a significant association of high prenatal testosterone (i.e., smaller right 2D:4D) with high hyperactive-impulsive ADHD symptoms in girls but not boys, suggesting that the effect may be driven by, or might only exist in, girls. The present study suggests that prenatal exposure to testosterone may increase risk for early ADHD, particularly hyperactivity-impulsivity, in preschool girls.

  16. Congenital toxoplasmosis and prenatal care state programs

    PubMed Central

    2014-01-01

    Background Control programs have been executed in an attempt to reduce vertical transmission and the severity of congenital infection in regions with a high incidence of toxoplasmosis in pregnant women. We aimed to evaluate whether treatment of pregnant women with spiramycin associated with a lack of monitoring for toxoplasmosis seroconversion affects the prognosis of patients. Methods We performed a prospective cohort study with 246 newborns (NB) at risk for congenital toxoplasmosis in Goiânia (Brazil) between October 2003 and October 2011. We analyzed the efficacy of maternal treatment with spiramycin. Results A total of 40.7% (66/162) of the neonates were born seriously infected. Vertical transmission associated with reactivation during pregnancy occurred in 5.5% (9/162) of the NB, with one showing severe infection (systemic). The presence of specific immunoglobulins (fetal IgM and NB IgA) suggested the worst prognosis. Treatment of pregnant women by spiramycin resulted in reduced vertical transmission. When infected pregnant women did not undergo proper treatment, the risk of severe infection (neural-optical) in NB was significantly increased. Fetal IgM was associated with ocular impairment in 48.0% (12/25) of the fetuses and neonatal IgA-specific was related to the neuro-ophthalmologic and systemic forms of the disease. When acute toxoplasmosis was identified in the postpartum period, a lack of monitoring of seronegative pregnant women resulted in a higher risk of severe congenital infection. Conclusion Treatment of pregnant women with spiramycin reduces the possibility of transmission of infection to the fetus. However, a lack of proper treatment is associated with the onset of the neural-optical form of congenital infection. Primary preventive measures should be increased for all pregnant women during the prenatal period and secondary prophylaxis through surveillance of seroconversion in seronegative pregnant woman should be introduced to reduce the

  17. Is Sonographic Assessment of Intratendinous Blood Flow in Achilles Tendinopathy Patients Reliable?

    PubMed Central

    Risch, L.; Cassel, M.; Messerschmidt, J.; Intziegianni, K.; Fröhlich, K.; Kopinski, S.; Mayer, F.

    2016-01-01

    Purpose: The purpose of this study was to investigate the consistency between different Doppler ultrasound (DU) modes as well as the intra- and inter-observer reliability of investigators with different experience level in assessing intratendinous blood flow (IBF) in Achilles tendinopathy patients. Material and Methods: 18 participants (36 Achilles tendons, AT) with Achilles tendinopathy (24 AT) were examined with power Doppler ultrasound (PDU), colour Doppler ultrasound (CDU) and “Advanced Dynamic Flow” (ADF) (Toshiba Xario SSA-660 A; 14MHz transducer) by 2 investigators (experienced, EI; inexperienced, II) in a test-retest design (M1/M2). A modified Öhberg score was used to quantify IBF. Data was analysed descriptively (absolute and relative). Consistency of the 3 modes was presented by Kendall’s Coefficient of Concordance (Kendall’s W). Intra- and inter-observer reliability were calculated by use of Kendall’s tau b correlation coefficient. Results: IBF was detected in 79–92% of symptomatic AT and in 33–50% of contralateral asymptomatic AT. Comparing the 3 modes, Kendall’s W ranged from 0.97–0.98. Analysis of intra-observer reliability resulted in Kendall’s tau 0.90–0.92 for EI and 0.84–0.87 for II. Inter-observer reliability resulted in Kendall’s tau 0.64–0.69 in M1 and 0.68–0.70 in M2. Conclusion: The very good consistency between PDU, CDU and ADF indicates a comparable applicability for assessing IBF in ATs. Intra-observer reliability was high for both investigators, independent of experience. The moderate inter-observer reliability reflects the challenge in sonographic detection of intratendinous blood flow (IBF) amount. PMID:27689161

  18. Normal sonographic anatomy of the abdomen of coatis (Nasua nasua Linnaeus 1766)

    PubMed Central

    2013-01-01

    Background The use of ultrasound in veterinary medicine is widespread as a diagnostic supplement in the clinical routine of small animals, but there are few reports in wild animals. The objective of this study was to describe the anatomy, topography and abdominal sonographic features of coatis. Results The urinary bladder wall measured 0.11 ± 0.03 cm. The symmetrical kidneys were in the left and right cranial quadrant of the abdomen and the cortical, medullary and renal pelvis regions were recognized and in all sections. The medullary rim sign was visualized in the left kidney of two coatis. The liver had homogeneous texture and was in the cranial abdomen under the rib cage. The gallbladder, rounded and filled with anechoic content was visualized in all coatis, to the right of the midline. The spleen was identified in the left cranial abdomen following the greater curvature of the stomach. The parenchyma was homogeneous and hyperechogenic compared to the liver and kidney cortex. The stomach was in the cranial abdomen, limited cranially by the liver and caudo-laterally by the spleen. The left adrenal glands of five coatis were seen in the cranial pole of the left kidney showing hypoechogenic parenchyma without distinction of cortex and medulla. The pancreas was visualized in only two coatis. The left ovary (0.92 cm x 0.56 cm) was visualized on a single coati in the caudal pole of the kidney. The uterus, right adrenal, right ovary and intestines were not visualized. Conclusions Ultrasound examination of the abdomen of coatis may be accomplished by following the recommendations for dogs and cats. It is possible to evaluate the anatomical and topographical relationships of the abdominal organs together with the knowledge of the peculiarities of parenchymal echogenicity and echotexture of the viscera. PMID:23800301

  19. Normal and sonographic anatomy of selected peripheral nerves. Part III: Peripheral nerves of the lower limb.

    PubMed

    Kowalska, Berta; Sudoł-Szopińska, Iwona

    2012-06-01

    The ultrasonographic examination is currently increasingly used in imaging peripheral nerves, serving to supplement the physical examination, electromyography and magnetic resonance imaging. As in the case of other USG imaging studies, the examination of peripheral nerves is non-invasive and well-tolerated by patients. The typical ultrasonographic picture of peripheral nerves as well as the examination technique have been discussed in part I of this article series, following the example of the median nerve. Part II of the series presented the normal anatomy and the technique for examining the peripheral nerves of the upper limb. This part of the article series focuses on the anatomy and technique for examining twelve normal peripheral nerves of the lower extremity: the iliohypogastric and ilioinguinal nerves, the lateral cutaneous nerve of the thigh, the pudendal, sciatic, tibial, sural, medial plantar, lateral plantar, common peroneal, deep peroneal and superficial peroneal nerves. It includes diagrams showing the proper positioning of the sonographic probe, plus USG images of the successively discussed nerves and their surrounding structures. The ultrasonographic appearance of the peripheral nerves in the lower limb is identical to the nerves in the upper limb. However, when imaging the lower extremity, convex probes are more often utilized, to capture deeply-seated nerves. The examination technique, similarly to that used in visualizing the nerves of upper extremity, consists of locating the nerve at a characteristic anatomic reference point and tracking it using the "elevator technique". All 3 parts of the article series should serve as an introduction to a discussion of peripheral nerve pathologies, which will be presented in subsequent issues of the "Journal of Ultrasonography".

  20. Prenatal x-ray exposure and childhood cancer in twins

    SciTech Connect

    Harvey, E.B.; Boice, J.D. Jr.; Honeyman, M.; Flannery, J.T.

    1985-02-28

    A case-control study was conducted to investigate the relation between prenatal exposure to x-rays and childhood cancer, including leukemia, in over 32,000 twins born in Connecticut from 1930 to 1969. Twins as opposed to single births were chosen for study to reduce the likelihood of medical selection bias, since twins were often exposed to x-rays to diagnose the twin pregnancy or to determine fetal positioning before delivery and not because of medical conditions that may conceivably pre-dispose to cancer. Each of 31 incident cases of cancer, identified by linking the Connecticut twin and tumor registries, was matched with four twin controls according to sex, year of birth, and race. Records of hospitals, radiologists, and private physicians were searched for histories of x-ray exposure and other potentially important risk factors. Documented prenatal x-ray exposures were found for 39 per cent of the cases (12 of 31) and for 26 per cent of the controls (28 of 109). No other pregnancy, delivery, or maternal conditions were associated with cancer risk except low birth weight: 38 per cent of the cases as compared with 25 per cent of the controls weighed under 2.27 kg at birth. When birth weight was adjusted for, twins in whom leukemia or other childhood cancer developed were twice as likely to have been exposed to x-rays in utero as twins who were free of disease (relative risk, 2.4; 95 per cent confidence interval, 1.0 to 5.9). The results, though based on small numbers, provide further evidence that low-dose prenatal irradiation may increase the risk of childhood cancer.

  1. Research and Practice Communications Between Oral Health Providers and Prenatal Health Providers: A Bibliometric Analysis.

    PubMed

    Skvoretz, John; Dyer, Karen; Daley, Ellen; Debate, Rita; Vamos, Cheryl; Kline, Nolan; Thompson, Erika

    2016-08-01

    Objectives We aimed to examine scholarly collaboration between oral health and prenatal providers. Oral disease is a silent epidemic with significant public health implications for pregnant women. Evidence linking poor oral health during pregnancy to adverse pregnancy and birth outcomes requires oral health and prenatal providers to communicate on the prevention, treatment and co-management matters pertaining to oral health issues among their pregnant patients. The need for inter-professional collaboration is highlighted by guidelines co-endorsed by the American College of Obstetricians and Gynecologists and the American Dental Association, stressing the importance of oral health care during pregnancy. Methods To assess if interdisciplinary communication occurs between oral health and prenatal disciplines, we conducted a network analysis of research on pregnancy-related periodontal disease. Results Social Network analysis allowed us to identify communication patterns between communities of oral health and prenatal professionals via scientific journals. Analysis of networks of citations linking journals in different fields reveals a core-periphery pattern dominated by oral health journals with some participation from medicine journals. However, an analysis of dyadic ties of citation reveals statistically significant "inbreeding" tendencies in the citation patterns: both medical and oral health journals tend to cite their own kind at greater-than-chance levels. Conclusions Despite evidence suggesting that professional collaboration benefits patients' overall health, findings from this research imply that little collaboration occurs between these two professional groups. More collaboration may be useful in addressing women's oral-systemic health concerns that result in adverse pregnancy outcomes.

  2. Sonographic confirmation of the correct placement of a nasoenteral tube in a woman with hyperemesis gravidarum: case report.

    PubMed

    Swartzlander, Ty K; Carlan, S J; Locksmith, Greg; Elms, Luke

    2013-01-01

    Hyperemesis gravidarum is a serious systemic disorder of pregnant women characterized by intractable vomiting resulting in metabolic, biochemical, and hematologic changes. Enteral nutrition has been used successfully and has a lower complication rate than parenteral nutrition. Tube feeding requires location of the feeding tube tip before the infusion of nutritional substance is started. We report a case of assisted feeding tube tip location using real time sonography in a pregnant women treated for hyperemesis gravidarum. Sonographic examination may be used as an alternative to x-ray for the confirmation of feeding tube location in pregnant women and thus eliminate exposure of the fetus to ionizing radiation.

  3. Sterile Intra-amniotic Inflammation in Asymptomatic Patients with a Sonographic Short Cervix: Prevalence and Clinical Significance

    PubMed Central

    Romero, Roberto; Miranda, Jezid; Chaiworapongsa, Tinnakorn; Chaemsaithong, Piya; Gotsch, Francesca; Dong, Zhong; Ahmed, Ahmed I.; Yoon, Bo Hyun; Hassan, Sonia S.; Kim, Chong J.; Korzeniewski, Steven J.; Yeo, Lami; Kim, Yeon Mee

    2014-01-01

    Objective To determine the frequency and clinical significance of sterile- and microbial-associated intra-amniotic inflammation in asymptomatic patients with a sonographic short cervix. Methods Amniotic fluid (AF) samples obtained by transabdominal amniocentesis from 231 asymptomatic women with a sonographic short cervix [cervical length (CL) ≤25 mm] were analyzed using cultivation techniques (for aerobic and anaerobic as well as genital mycoplasmas) and broad-range polymerase chain reaction (PCR) coupled with electrospray ionization mass spectrometry (PCR/ESI-MS). The frequency and magnitude of intra-amniotic inflammation [defined as an AF interleukin (IL)-6 concentration ≥2.6 ng/mL], acute histologic placental inflammation, spontaneous preterm delivery, and the amniocentesis-to-delivery interval were examined according to the results of AF cultures, PCR/ESI-MS and AF IL-6 concentrations. Results Ten percent (24/231) of patients with a sonographic short cervix had sterile intra-amniotic inflammation (an elevated AF IL-6 concentration without evidence of microorganisms using cultivation and molecular methods). Sterile intra-amniotic inflammation was significantly more frequent than microbial-associated intra-amniotic inflammation [10.4% (24/231) vs. 2.2% (5/231); p<0.001]. Patients with sterile intra-amniotic inflammation had a significantly higher rate of spontaneous preterm delivery <34 weeks of gestation [70.8% (17/24) vs. 31.6% (55/174); p<0.001] and a significantly shorter amniocentesis-to-delivery interval than patients without intra-amniotic inflammation [median 35, (IQR: 10 – 70) vs. median 71, (IQR: 47 – 98) days, (p<0.0001)]. Conclusion Sterile intra-amniotic inflammation is more common than microbial-associated intra-amniotic inflammation in asymptomatic women with a sonographic short cervix, and is associated with increased risk of spontaneous preterm delivery (<34 weeks). Further investigation is required to determine the causes of sterile

  4. Prenatal education in the work place.

    PubMed

    Shapiro, H R

    1993-01-01

    Advances in neonatal care have improved survival rates among premature and low-birth-weight (LBW) infants, but highly technical care for these infants costs more than $2 billion a year in the United States. The incidence of premature and LBW infants can be reduced by prenatal education programs that focus on nutrition, obtaining prenatal care, avoiding dangerous substances, and recognizing preterm labor. In an effort to contain health care costs, many companies self-insure employee health benefits and offer health promotion programs designed to improve life style behaviors. This article examines providing a prenatal education program in the work place as a way of reducing the incidence and costs of prematurity and low birth weight.

  5. A rare case of cardiac anomaly: prenatally diagnosed ectopia cordis.

    PubMed

    Çelik, Yalçın; Hallıoğlu, Olgu; Basut, Nursel; Demetgül, Hasan; Esin Kibar, A

    2015-06-01

    Ectopia cordis is a rare congenital malformation in which the heart is located partially or totally outside the thoracic cavity. The estimated prevalence of ectopia cordis is 5.5-7.9 per million births and it comprises 0.1% of congenital heart diseases. Ectopia cordis is associated with other congenital heart diseases and various tissue and organ disorders. Common cardiac anomalies associated with ectopia cordis include ventricular septal defect, atrial septal defect, pulmonary stenosis, right ventricular diverticulum, double right ventricular outflow tract and tetralogy of Fallot. Extracardiac anomalies associated with ectopia cordis reported in the literature include omphalocele, gastrochisis, cleft lip and palate, scollosis and central nervous system malformations. Here we report a newborn with ectopia cordis who was diagnosed prenatally.

  6. A rare case of cardiac anomaly: prenatally diagnosed ectopia cordis

    PubMed Central

    Çelik, Yalçın; Hallıoğlu, Olgu; Basut, Nursel; Demetgül, Hasan; Esin Kibar, A.

    2015-01-01

    Ectopia cordis is a rare congenital malformation in which the heart is located partially or totally outside the thoracic cavity. The estimated prevalence of ectopia cordis is 5.5–7.9 per million births and it comprises 0.1% of congenital heart diseases. Ectopia cordis is associated with other congenital heart diseases and various tissue and organ disorders. Common cardiac anomalies associated with ectopia cordis include ventricular septal defect, atrial septal defect, pulmonary stenosis, right ventricular diverticulum, double right ventricular outflow tract and tetralogy of Fallot. Extracardiac anomalies associated with ectopia cordis reported in the literature include omphalocele, gastrochisis, cleft lip and palate, scollosis and central nervous system malformations. Here we report a newborn with ectopia cordis who was diagnosed prenatally. PMID:26265899

  7. The placenta and neurodevelopment: sex differences in prenatal vulnerability.

    PubMed

    Bale, Tracy L

    2016-12-01

    Prenatal insults, such as maternal stress, are associated with an increased neurodevelopmental disease risk and impact males significantly more than females, including increased rates of autism, mental retardation, stuttering, dyslexia, and attention deficit/hyperactivity disorder (ADHD). Sex differences in the placenta, which begin with sex chromosomes, are likely to produce sex-specific transplacental signals to the developing brain. Our studies and others have identified X-linked genes that are expressed at higher levels in the female placenta. Through a genome-wide screen after maternal stress in mice, we identified the X-linked gene O-linked N-acetylglucosamine transferase (OGT) and demonstrated its causality in neurodevelopmental programming producing a male-specific stress phenotype. Elucidating the sex-specific molecular mechanisms involved in transplacental signals that impact brain development is key to understanding the sex bias in neurodevelopmental disorders and is expected to yield novel insight into disease risk and resilience.

  8. The placenta and neurodevelopment: sex differences in prenatal vulnerability

    PubMed Central

    Bale, Tracy L.

    2016-01-01

    Prenatal insults, such as maternal stress, are associated with an increased neurodevelopmental disease risk and impact males significantly more than females, including increased rates of autism, mental retardation, stuttering, dyslexia, and attention deficit/hyperactivity disorder (ADHD). Sex differences in the placenta, which begin with sex chromosomes, are likely to produce sex-specific transplacental signals to the developing brain. Our studies and others have identified X-linked genes that are expressed at higher levels in the female placenta. Through a genome-wide screen after maternal stress in mice, we identified the X-linked gene O-linked N-acetylglucosamine transferase (OGT) and demonstrated its causality in neurodevelopmental programming producing a male-specific stress phenotype. Elucidating the sex-specific molecular mechanisms involved in transplacental signals that impact brain development is key to understanding the sex bias in neurodevelopmental disorders and is expected to yield novel insight into disease risk and resilience. PMID:28179817

  9. Barriers to adequate prenatal care utilization in American Samoa

    PubMed Central

    Hawley, Nicola L; Brown, Carolyn; Nu’usolia, Ofeira; Ah-Ching, John; Muasau-Howard, Bethel; McGarvey, Stephen T

    2013-01-01

    Objective To describe the utilization of prenatal care in American Samoan women and to identify socio-demographic predictors of inadequate prenatal care utilization. Methods Using data from prenatal clinic records, women (n=692) were categorized according to the Adequacy of Prenatal Care Utilization Index as having received adequate plus, adequate, intermediate or inadequate prenatal care during their pregnancy. Categorical socio-demographic predictors of the timing of initiation of prenatal care (week of gestation) and the adequacy of received services were identified using one way Analysis of Variance (ANOVA) and independent samples t-tests. Results Between 2001 and 2008 85.4% of women received inadequate prenatal care. Parity (P=0.02), maternal unemployment (P=0.03), and both parents being unemployed (P=0.03) were negatively associated with the timing of prenatal care initation. Giving birth in 2007–2008, after a prenatal care incentive scheme had been introduced in the major hospital, was associated with earlier initiation of prenatal care (20.75 versus 25.12 weeks; P<0.01) and improved adequacy of received services (95.04% versus 83.8%; P=0.02). Conclusion The poor prenatal care utilization in American Samoa is a major concern. Improving healthcare accessibility will be key in encouraging women to attend prenatal care. The significant improvements in the adequacy of prenatal care seen in 2007–2008 suggest that the prenatal care incentive program implemented in 2006 may be a very positive step toward addressing issues of prenatal care utilization in this population. PMID:24045912

  10. Prenatal centrifugation: A model for fetal programming of adult weight?

    NASA Astrophysics Data System (ADS)

    Baer, Lisa A.; Rushing, Linda; Wade, Charles E.; Ronca, April E.

    2005-08-01

    'Fetal programming' is a newly emerging field that is revealing astounding insights into the prenatal origins of adult disease, including metabolic, endocrine, and cardiovascular pathophysiology. In the present study, we tested the hypothesis that rat pups conceived, gestated and born at 2-g have significantly reduced birth weights and increased adult body weights as compared to 1-g controls. Offspring were produced by mating young adult male and female rats that were adapted to 2-g centrifugation. Female rats underwent conception, pregnancy and birth at 2-g. Newborn pups in the 2-g condition were removed from the centrifuge and fostered to non-manipulated, newly parturient dams maintained at 1-g. Comparisons were made with 1-g stationary controls, also cross- fostered at birth. As compared to 1-g controls, birth weights of pups gestated and born at 2-g were significantly reduced. Pup body weights were significantly reduced until Postnatal day (P)12. Beginning on P63, body weights of 2-g-gestated offspring exceeded those of 1-g controls by 7-10%. Thus, prenatal rearing at 2-g restricts neonatal growth and increases adult body weight. Collectively, these data support the hypothesis that 2-g centrifugation alters the intrauterine milieu, thereby inducing persistent changes in adult phenotype.

  11. PRENATAL COCAINE EXPOSURE DIFFERENTIALLY CAUSES VASCULAR DYSFUNCTION IN ADULT OFFSPRING

    PubMed Central

    Xiao, DaLiao; Huang, Xiaohui; Xu, Zhice; Yang, Shumei; Zhang, Lubo

    2009-01-01

    Epidemiological studies have shown a clear association of adverse intrauterine environment and an increased risk of cardiovascular diseases and hypertension in adult life. The present study tested the hypothesis that prenatal cocaine exposure causes reprogramming of vascular reactivity, leading to an increased risk of hypertension in adult offspring. Pregnant rats received cocaine (30 mgkg-1day-1) or saline from days 15 to 21 of gestational age and experiments were conducted in 3-month-old offspring. Cocaine had no effect on the baseline blood pressure, but significantly increased norepinephrine-stimulated blood pressure and decreased the baroreflex sensitivity in male but not female offspring. The cocaine treatment significantly increased norepinephrine-induced contractions in pressurized resistance-sized mesenteric arteries but not in aortas, which was primarily due to a loss of eNOS-mediated inhibition and an enhanced Ca2+ sensitivity in mesenteric arteries. Additionally, the cocaine treatment significantly attenuated the endothelium-dependent relaxation in mesenteric arteries in male but not female offspring. eNOS protein levels in aortas but not mesenteric arteries were significantly increased in the cocaine-treated animals. However, cocaine significantly decreased phosphorylation levels of eNOS in both aortas and mesenteric arteries. The results suggest that prenatal cocaine exposure programs vascular contractility via changes in eNOS-regulated Ca2+ sensitivity of myofilaments in the sex- and tissue-dependent manners in resistance arteries leading to an increased risk of hypertension in male offspring. PMID:19380615

  12. EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.

    PubMed

    Traeger-Synodinos, Joanne; Harteveld, Cornelis L; Old, John M; Petrou, Mary; Galanello, Renzo; Giordano, Piero; Angastioniotis, Michael; De la Salle, Barbara; Henderson, Shirley; May, Alison

    2015-04-01

    Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures that identify couples at risk for having affected children, so that they can be offered options to have healthy offspring. Molecular diagnosis facilitates prenatal diagnosis and definitive diagnosis of carriers and patients (especially 'atypical' cases who often have complex genotype interactions). However, the haemoglobin disorders are unique among all genetic diseases in that identification of carriers is preferable by haematological (biochemical) tests rather than DNA analysis. These Best Practice guidelines offer an overview of recommended strategies and methods for carrier identification and prenatal diagnosis of haemoglobinopathies, and emphasize the importance of appropriately applying and interpreting haematological tests in supporting the optimum application and evaluation of globin gene DNA analysis.

  13. Prenatal diagnosis and assessment of congenital spinal anomalies: Review for prenatal counseling

    PubMed Central

    Upasani, Vidyadhar V; Ketwaroo, Pamela Deaver; Estroff, Judy A; Warf, Benjamin C; Emans, John B; Glotzbecker, Michael P

    2016-01-01

    The last two decades have seen continuous advances in prenatal ultrasonography and in utero magnetic resonance imaging. These technologies have increasingly enabled the identification of various spinal pathologies during early stages of gestation. The purpose of this paper is to review the range of fetal spine anomalies and their management, with the goal of improving the clinician’s ability to counsel expectant parents prenatally. PMID:27458551

  14. Kinematical and functional improvements of trigger digits after sonographically assisted percutaneous release of the A1 pulley.

    PubMed

    Kuo, Li-Chieh; Su, Fong-Chin; Tung, Wen-Lin; Lai, Kuan-Yin; Jou, I-Ming

    2009-07-01

    We present evidence of kinematic and functional improvements of the trigger digit after sonographically assisted percutaneous release using quantitative motion analyses and functional assessments, respectively. Twenty-two patients with idiopathic trigger digits, who received the surgery, were recruited. A motion tracking system was used to measure the assigned kinematics parameters at the presurgical visit and at 1, 4, and 12 weeks after surgery. The hand strength and functional outcome were also obtained using dynamometer and self-report questionnaire assessments. The hand strength, maximal workspace, and joint range of motion of the involved digit were significantly smaller than that of the intact finger on the contralateral hand before surgery. The triggering phenomenon of the involved digit was significantly higher than that of the corresponding finger in the intact hand using a subscribed angular acceleration factor. The repeated measures showed that the workspace, joint range of motion, hand strength, and triggering effect of the involved hand significantly improved in follow-up examinations after the surgical intervention. Painful movement or insufficient tendon excursion of the trigger digit can cause loss of movement and strength, thus interfering with functional performance. After the disappearance of the pain and triggering by sonographically assisted percutaneous release, improvements in kinematics and function were objectively quantified in this study.

  15. Prenatal radiation exposure: dose calculation.

    PubMed

    Scharwächter, C; Röser, A; Schwartz, C A; Haage, P

    2015-05-01

    .• In case of radiation a suitable hygiene consultation may be necessary.• For risk assessment a three-stage concept is applied, which, depending on the radiation exposure, estimates or calculates the dose for the unborn child.• The radiologist plays a crucial role as a competent advisor and provider of reliable expert information. Citation Format: • Scharwächter C, Röser A, Schwartz CA et al. Prenatal Radiation Exposure: Dose Calculation. Fortschr Röntgenstr 2015; 187: 338 - 346.

  16. Prenatal diagnosis and prenatal imaging features of fetal monosomy 1p36.

    PubMed

    Lissauer, D; Larkins, S A; Sharif, S; MacPherson, L; Rhodes, C; Kilby, M D

    2007-09-01

    Deletion of the distal end of the short arm of chromosome 1 (1p36) is thought to be a common terminal chromosomal deletion. However, few cases prospectively diagnosed prenatally have been reported. In this case, prenatal ultrasound at 21 weeks of gestation noted the fetus to have mild ventriculomegaly (Vhanterior = 11 mm and Vhposterior = 12 mm) and increased nuchal edema (6 mm). Maternal serum alpha-fetoprotein was normal unlike in a majority of previously described cases. The prenatal ultrasound features were further clarified with fetal MRI. Chromosome analysis following amniocentesis demonstrated a 1p36 deletion, which was confirmed by fluorescence in situ hybridization (FISH). The syndrome associated with 1p36 deletion is well described in infants and is characterized by typical facial features (prominent forehead, straight eyebrows. deep-set eyes, flat nasal bridge and a pointed chin). Other associated features are neurodevelopmental delay, seizures, cardiomyopathy and neurosensory hearing impairment. This case supplements our knowledge of the prenatal features of 1p36. Identification of this deletion by direct chromosomal analysis can be technically difficult and vigilance is required to improve diagnosis. FISH analysis is an important diagnostic adjunct where the diagnosis is suspected following classical G-banding techniques. However, in this chromosomal anomaly there remain few characteristic prenatal signs that are readily diagnosed with prenatal imaging.

  17. An update on current prenatal testing options: first trimester and noninvasive prenatal testing.

    PubMed

    Latendresse, Gwen; Deneris, Angela

    2015-01-01

    Prenatal genetic testing is rapidly evolving and requires that prenatal care providers stay up-to-date with accurate, evidence-based knowledge. Noninvasive prenatal testing (NIPT), first trimester maternal serum markers, and fetal nuchal translucency are the most recently developed screening tests added to the testing repertoire for detection of chromosomal disorders such as trisomy 21 (Down syndrome). NIPT is a new, highly accurate technique that uses maternal serum and is rapidly being introduced as a first trimester screening tool and increasingly being requested by pregnant women. The American College of Obstetricians and Gynecologists recommends that all pregnant women be offered first and second trimester screening options, regardless of risk status, but does not yet recommend NIPT. It is important for prenatal care providers to be aware of and understand these testing options in order to assist women and their families in making well-informed decisions during pregnancy. The purpose of this article is to update midwives and other prenatal care providers on the current prenatal genetic testing options available and how to appropriately offer and discuss them with their clients. We discuss how these tests work; what to do with the results; and most importantly, how to support and communicate accurate information to women and families as they navigate through an increasingly complicated array of testing choices.

  18. Early Detection of Drug-Induced Renal Hemodynamic Dysfunction Using Sonographic Technology in Rats

    PubMed Central

    Fisch, Sudeshna; Liao, Ronglih; Hsiao, Li-Li; Lu, Tzongshi

    2016-01-01

    The kidney normally functions to maintain hemodynamic homeostasis and is a major site of damage caused by drug toxicity. Drug-induced nephrotoxicity is estimated to contribute to 19- 25% of all clinical cases of acute kidney injury (AKI) in critically ill patients. AKI detection has historically relied on metrics such as serum creatinine (sCr) or blood urea nitrogen (BUN) which are demonstrably inadequate in full assessment of nephrotoxicity in the early phase of renal dysfunction. Currently, there is no robust diagnostic method to accurately detect hemodynamic alteration in the early phase of AKI while such alterations might actually precede the rise in serum biomarker levels. Such early detection can help clinicians make an accurate diagnosis and help in in decision making for therapeutic strategy. Rats were treated with Cisplatin to induce AKI. Nephrotoxicity was assessed for six days using high-frequency sonography, sCr measurement and upon histopathology of kidney. Hemodynamic evaluation using 2D and Color-Doppler images were used to serially study nephrotoxicity in rats, using the sonography. Our data showed successful drug-induced kidney injury in adult rats by histological examination. Color-Doppler based sonographic assessment of AKI indicated that resistive-index (RI) and pulsatile-index (PI) were increased in the treatment group; and peak-systolic velocity (mm/s), end-diastolic velocity (mm/s) and velocity-time integral (VTI, mm) were decreased in renal arteries in the same group. Importantly, these hemodynamic changes evaluated by sonography preceded the rise of sCr levels. Sonography-based indices such as RI or PI can thus be useful predictive markers of declining renal function in rodents. From our sonography-based observations in the kidneys of rats that underwent AKI, we showed that these noninvasive hemodynamic measurements may consider as an accurate, sensitive and robust method in detecting early stage kidney dysfunction. This study also

  19. Sonographic evaluation of the shoulder in asymptomatic elderly subjects with diabetes

    PubMed Central

    2010-01-01

    Background The prevalence of rotator cuff tears increases with age and several studies have shown that diabetes is associated with symptomatic shoulder pathologies. Aim of our research was to evaluate the prevalence of shoulder lesions in a population of asymptomatic elderly subjects, normal and with non insulin - dependent diabetes mellitus. Methods The study was performed on 48 subjects with diabetes and 32 controls (mean age: 71.5 ± 4.8 and 70.7 ± 4.5, respectively), who did not complain shoulder pain or dysfunction. An ultrasound examination was performed on both shoulders according to a standard protocol, utilizing multiplanar scans. Results Tendons thickness was greater in diabetics than in controls (Supraspinatus Tendon: 6.2 ± 0.09 mm vs 5.2 ± 0.7 mm, p < 0.001; Biceps Tendon: 4 ± 0.8 mm vs 3.2 ± 0.4 mm, p < 0.001). Sonographic appearances of degenerative features in the rotator cuff and biceps were more frequently observed in diabetics (Supraspinatus Tendon: 42.7% vs 20.3%, p < 0.003; Biceps Tendon: 27% vs 7.8%, p < 0.002). Subjects with diabetes exhibited more tears in the Supraspinatus Tendon (Minor tears: 15 (15.8%) vs 2 (3.1%), p < 0.03; Major tears: 15 (15.8%) vs 5 (7.8%), p = ns), but not in the long head of Biceps. More effusions in subacromial bursa were observed in diabetics (23.9% vs 10.9%, p < 0.03) as well as tenosynovitis in biceps tendon (33.3% vs 10.9%, p < 0.001). In both groups, pathological findings were prevalent on the dominant side, but no difference related to duration of diabetes was found. Conclusions Our results suggest that age - related rotator cuff tendon degenerative changes are more common in diabetics. Ultrasound is an useful tool for discovering in pre - symptomatic stages the subjects that may undergo shoulder symptomatic pathologies. PMID:21138564

  20. Prenatal programming-effects on blood pressure and renal function.

    PubMed

    Ritz, Eberhard; Amann, Kerstin; Koleganova, Nadezda; Benz, Kerstin

    2011-03-01

    Impaired intrauterine nephrogenesis-most clearly illustrated by low nephron number-is frequently associated with low birthweight and has been recognized as a powerful risk factor for renal disease; it increases the risks of low glomerular filtration rate, of more rapid progression of primary kidney disease, and of increased incidence of chronic kidney disease or end-stage renal disease. Another important consequence of impaired nephrogenesis is hypertension, which further amplifies the risk of onset and progression of kidney disease. Hypertension is associated with low nephron numbers in white individuals, but the association is not universal and is not seen in individuals of African origin. The derangement of intrauterine kidney development is an example of a more general principle that illustrates the paradigm of plasticity during development-that is, that transcription of the genetic code is modified by epigenetic factors (as has increasingly been documented). This Review outlines the concept of prenatal programming and, in particular, describes its role in kidney disease and hypertension.

  1. An interesting prenatal diagnosis: double aneuploidy.

    PubMed

    Aydin, Cetin; Eris, Serenat; Yalcin, Yakup; Sen Selim, Halime

    2013-01-01

    Double aneuploidy, the existence of two chromosomal abnormalities in the same individual, is a rare condition. Early diagnosis of this condition is important to offer termination of pregnancy in genetic counselling. Cytogenetic analysis with amniocentesis and ultrasound examination is valuable for diagnosis of double aneuploidy. In this report we present a case with the karyotype of 48XXY+21 diagnosed prenatally.

  2. Prenatal diagnosis of Chinese families with phenylketonuria.

    PubMed

    Liu, N; Kong, X D; Zhao, D H; Wu, Q H; Li, X L; Guo, H F; Cui, L X; Jiang, M; Shi, H R

    2015-11-19

    The aim of this study is to investigate the ability to prenatally diagnose phenylketonuria (PKU) by using phenylalanine hydroxylase (PAH) gene mutation analysis combined with short tandem repeat (STR) linkage analysis in 118 fetuses from 112 Chinese families. Genomic DNA was extracted from the peripheral blood from members of 112 families and the exons and exon-intron boundaries of the PAH gene were amplified by PCR. PCR products were analyzed by bi-directional Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA). The three variable number of tandem repeat (VNTR) markers PAH-1, PAH-26, PAH-32 were used in the prenatal diagnosis for the PKU families. We identified a spectrum of 63 different mutations, including 61 point mutations and indels, two large exon deletion mutations, and five novel mutations. A substantial proportion of mutant alleles were accounted for by p.R243Q (15.62%), EX6-96AG (9.82%), p.V399V (7.59%), p.Y356X (6.70%), and p.R413P (5.36%). The same mutations were identified in 31 prenatally genotyped fetuses. We identified 58 fetuses that carried only one mutant allele and 29 fetuses that carried no mutations of PAH and were presumed normal. PAH gene mutation analysis combined with STR linkage analysis can provide rapid and accurate prenatal diagnosis for PKU families.

  3. Psychiatric Conditions Associated with Prenatal Alcohol Exposure

    ERIC Educational Resources Information Center

    O'Connor, Mary J.; Paley, Blair

    2009-01-01

    Since the identification of fetal alcohol syndrome (FAS) over 35 years ago, mounting evidence about the impact of maternal alcohol consumption during pregnancy has prompted increased attention to the link between prenatal alcohol exposure (PAE) and a constellation of developmental disabilities that are characterized by physical, cognitive, and…

  4. Ethical Considerations in Prenatal Sex Selection

    ERIC Educational Resources Information Center

    Hollingsworth, Leslie Doty

    2005-01-01

    Developments in assisted reproductive technologies have made it possible for couples to select the sex of a child prenatally. This article used the NASW Code of Ethics and information from the Ethics Committee of the American Society of Reproductive Medicine to consider ethical dilemmas related to social justice (for example, reinforcement of…

  5. Prenatal Cocaine Exposure and Infant Cortisol Reactivity

    ERIC Educational Resources Information Center

    Eiden, Rina D.; Veira, Yvette; Granger, Douglas A.

    2009-01-01

    This study examined the effects of prenatal cocaine exposure on infant hypothalamic-pituitary-adrenal axis activity and reactivity at 7 months of infant age. Participants were 168 caregiver-infant dyads (87 cocaine exposed, 81 not cocaine exposed; 47% boys). Maternal behavior, caregiving instability, and infant growth and behavior were assessed,…

  6. Prenatal office practices regarding infant feeding choices.

    PubMed

    Dusdieker, Lois B; Dungy, Claibourne I; Losch, Mary E

    2006-11-01

    The objective of this study was to determine the obstetric care providers' roles in breast-feeding promotion during prenatal care. A questionnaire addressing breast-feeding issues was sent to family practitioners (FP), obstetric-gynecologists (OB/GYN), and nurse midwives (NM) in Iowa, USA. All NM, 97% of FP, and 85% of OB/GYN reported asking infant feeding preference-usually only at the first prenatal visit. NM (73%) were most likely to provide extensive breast-feeding counseling. OB/GYN (68%) and FP physicians (90%) reported doing their own breast-feeding counseling. Breast examinations targeting future breast-feeding problems were done in 82% to 84% of patients. NM practices shared more information supportive of breast-feeding. Nearly all providers offered prenatal classes, but only 41% of FP offered breast-feeding classes. Free formula samples were available in 73% of FP, 54% of OB/GYN, and 36% NM offices. Pamphlets on formula feeding and also breast-feeding were readily available. Overall NM (64%) reported being strong breast-feeding advocates compared to only 13% of FP and 7% of OB/GYN. In conclusion, little promotion of breast-feeding occurs in most prenatal practice settings.

  7. Prenatal care in your second trimester

    MedlinePlus

    ... MedlinePlus GO GO About MedlinePlus Site Map FAQs Customer Support Health Topics Drugs & Supplements Videos & Tools Español You Are Here: Home → Medical Encyclopedia → Prenatal care in your second trimester URL of this page: // ...

  8. Prenatal Testing: Is It Right for You?

    MedlinePlus

    ... information about a baby's sex and rhesus (Rh) blood type. Diagnostic tests. If a screening test or prenatal cell-free DNA screening indicates a possible problem — or your age, family history or medical history puts you at increased risk ...

  9. Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations

    PubMed Central

    Zeevi, David A.; Altarescu, Gheona; Weinberg-Shukron, Ariella; Zahdeh, Fouad; Dinur, Tama; Chicco, Gaya; Herskovitz, Yair; Renbaum, Paul; Elstein, Deborah; Levy-Lahad, Ephrat; Rolfs, Arndt; Zimran, Ari

    2015-01-01

    BACKGROUND. Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of monogenic disease. Family-specific haplotype assembly is essential for accurate diagnosis of minuscule amounts of circulating cell-free fetal DNA; however, current haplotyping techniques are too time-consuming and laborious to be carried out within the limited time constraints of prenatal testing, hampering practical application of NIPD in the clinic. Here, we have addressed this pitfall and devised a universal strategy for rapid NIPD of a prevalent mutation in the Ashkenazi Jewish (AJ) population. METHODS. Pregnant AJ couples, carrying mutation(s) in GBA, which encodes acid β-glucosidase, were recruited at the SZMC Gaucher Clinic. Targeted next-generation sequencing of GBA-flanking SNPs was performed on peripheral blood samples from each couple, relevant mutation carrier family members, and unrelated individuals who are homozygotes for an AJ founder mutation. Allele-specific haplotypes were constructed based on linkage, and a consensus Gaucher disease–associated founder mutation–flanking haplotype was fine mapped. Together, these haplotypes were used for NIPD. All test results were validated by conventional prenatal or postnatal diagnostic methods. RESULTS. Ten parental alleles in eight unrelated fetuses were diagnosed successfully based on the noninvasive method developed in this study. The consensus mutation–flanking haplotype aided diagnosis for 6 of 9 founder mutation alleles. CONCLUSIONS. The founder NIPD method developed and described here is rapid, economical, and readily adaptable for prenatal testing of prevalent autosomal recessive disease-causing mutations in an assortment of worldwide populations. FUNDING. SZMC, Protalix Biotherapeutics Inc., and Centogene AG. PMID:26426075

  10. Skin autoreactivity in Hashimoto's thyroiditis patients without urticaria: autologous serum skin test positivity correlation with thyroid antibodies, sonographical volume and grading.

    PubMed

    Turkoglu, Zafer; Zindanci, Ilkin; Turkoglu, Ozlem; Can, Burce; Kavala, Mukaddes; Tamer, Gonca; Ulucay, Vasfiye; Akyer, Erdal

    2012-01-01

    Recent studies have shown an association between anti-thyroid antibodies and autologous serum skin test (ASST) positive urticaria patients. However, a connection between thyroid and this reliable skin test for mast cell autoreactivity, ASST, has not been reported yet. We investigated ASST in patients with Hashimoto's thyroiditis (HT) without urticaria and compared the results with laboratory and sonographical findings of HT. 154 HT patients, 100 healthy volunteers without HT as a first control group and 46 patients with multinodular goitre but without autoimmune thyroid disease as a second control group underwent testing with ASST. ASST was applied to these groups according to two criteria, first as ASST(new): autologous serum red wheal response 1.5 mm bigger than negative control; second as ASST(old): serum red wheal response 5 mm bigger than negative control accepted as positive. Free triiodothyronine (fT3), free thyroxine (fT4), thyroid-stimulating hormone (TSH), thyroid peroxidase antibody (anti-TPO) and thyroglobulin antibody (anti-Tg) levels were measured. ASST(old), ASST(new) scored positive in 51.3-60.4% of HT patients, with statistically significant differences. Thyroid volume grades were inversely proportional with ASST(old) and (new) positivity. Moderate (+) titers of anti-Tg in ASST(old) and (new) (+) cases were significantly higher than the same titers of anti-Tg in ASST(old) and (new) (-) cases. The prevalence of ASST positivity in HT patients was not affected by the following factors: gender, age at screening, laboratory measurements of thyroid function tests, anti-TPO antibodies and thyroid ultrasound (US) echogenicity. Positivity of ASST in HT has shown that there is a skin mast cell autoreactivity in HT patients independent of autoreactive chronic urticaria (ACU).

  11. Developmental programming: interaction between prenatal BPA exposure and postnatal adiposity on metabolic variables in female sheep.

    PubMed

    Veiga-Lopez, Almudena; Moeller, Jacob; Sreedharan, Rohit; Singer, Kanakadurga; Lumeng, Carey; Ye, Wen; Pease, Anthony; Padmanabhan, Vasantha

    2016-02-01

    Among potential contributors for the increased incidence of metabolic diseases is the developmental exposure to endocrine-disrupting chemicals such as bisphenol A (BPA). BPA is an estrogenic chemical used in a variety of consumer products. Evidence points to interactions of BPA with the prevailing environment. The aim of this study was to assess the effects of prenatal exposure to BPA on postnatal metabolic outcomes, including insulin resistance, adipose tissue distribution, adipocyte morphometry, and expression of inflammatory markers in adipose tissue as well as to assess whether postnatal overfeeding would exacerbate these effects. Findings indicate that prenatal BPA exposure leads to insulin resistance in adulthood in the first breeder cohort (study 1), but not in the second cohort (study 2), which is suggestive of potential differences in genetic susceptibility. BPA exposure induced adipocyte hypertrophy in the visceral fat depot without an accompanying increase in visceral fat mass or increased CD68, a marker of macrophage infiltration, in the subcutaneous fat depot. Cohens effect size analysis found the ratio of visceral to subcutaneous fat depot in the prenatal BPA-treated overfed group to be higher compared with the control-overfed group. Altogether, these results suggest that exposure to BPA during fetal life at levels found in humans can program metabolic outcomes that lead to insulin resistance, a forerunner of type 2 diabetes, with postnatal obesity failing to manifest any interaction with prenatal BPA relative to insulin resistance and adipocyte hypertrophy.

  12. A quantitative analysis of prenatal methyl mercury exposure and cognitive development.

    PubMed

    Cohen, Joshua T; Bellinger, David C; Shaywitz, Bennett A

    2005-11-01

    Although a rich source of n-3 polyunsaturated fatty acids (PUFAs) that may confer multiple health benefits, some fish also contain methyl mercury (MeHg), which may harm the developing fetus. U.S. government recommendations for women of childbearing age are to modify consumption of high MeHg fish to reduce MeHg exposure, while recommendations encourage fish consumption among the general population because of the nutritional benefits. The Harvard Center for Risk Analysis convened an expert panel (see acknowledgements) to quantify the net impact of resulting hypothetical changes in fish consumption across the population. This paper quantifies the impact of prenatal MeHg exposure on cognitive development. Other papers quantify the beneficial impact of prenatal intake of n-3 PUFAs on cognitive function and the extent to which fish consumption protects against coronary heart disease mortality and stroke in adults. This analysis aggregates results from three major prospective epidemiology studies to quantify the association between prenatal MeHg exposure and cognitive development as measured by intelligence quotient (IQ). It finds that prenatal MeHg exposure sufficient to increase the concentration of mercury in maternal hair at parturition by 1 microg/g decreases IQ by 0.7 points. This paper identifies important sources of uncertainty influencing this estimate, concluding that the plausible range of values for this loss is 0 to 1.5 IQ points.

  13. Developmental programming: interaction between prenatal BPA exposure and postnatal adiposity on metabolic variables in female sheep

    PubMed Central

    Veiga-Lopez, Almudena; Moeller, Jacob; Sreedharan, Rohit; Singer, Kanakadurga; Ye, Wen; Pease, Anthony

    2015-01-01

    Among potential contributors for the increased incidence of metabolic diseases is the developmental exposure to endocrine-disrupting chemicals such as bisphenol A (BPA). BPA is an estrogenic chemical used in a variety of consumer products. Evidence points to interactions of BPA with the prevailing environment. The aim of this study was to assess the effects of prenatal exposure to BPA on postnatal metabolic outcomes, including insulin resistance, adipose tissue distribution, adipocyte morphometry, and expression of inflammatory markers in adipose tissue as well as to assess whether postnatal overfeeding would exacerbate these effects. Findings indicate that prenatal BPA exposure leads to insulin resistance in adulthood in the first breeder cohort (study 1), but not in the second cohort (study 2), which is suggestive of potential differences in genetic susceptibility. BPA exposure induced adipocyte hypertrophy in the visceral fat depot without an accompanying increase in visceral fat mass or increased CD68, a marker of macrophage infiltration, in the subcutaneous fat depot. Cohens effect size analysis found the ratio of visceral to subcutanous fat depot in the prenatal BPA-treated overfed group to be higher compared with the control-overfed group. Altogether, these results suggest that exposure to BPA during fetal life at levels found in humans can program metabolic outcomes that lead to insulin resistance, a forerunner of type 2 diabetes, with postnatal obesity failing to manifest any interaction with prenatal BPA relative to insulin resistance and adipocyte hypertrophy. PMID:26646100

  14. Langerhans cell precursors acquire RANK/CD265 in prenatal human skin.

    PubMed

    Schöppl, Alice; Botta, Albert; Prior, Marion; Akgün, Johnnie; Schuster, Christopher; Elbe-Bürger, Adelheid

    2015-01-01

    The skin is the first barrier against foreign pathogens and the prenatal formation of a strong network of various innate and adaptive cells is required to protect the newborn from perinatal infections. While many studies about the immune system in healthy and diseased adult human skin exist, our knowledge about the cutaneous prenatal/developing immune system and especially about the phenotype and function of antigen-presenting cells such as epidermal Langerhans cells (LCs) in human skin is still scarce. It has been shown previously that LCs in healthy adult human skin express receptor activator of NF-κB (RANK), an important molecule prolonging their survival. In this study, we investigated at which developmental stage LCs acquire this important molecule. Immunofluorescence double-labeling of cryostat sections revealed that LC precursors in prenatal human skin either do not yet [10-11 weeks of estimated gestational age (EGA)] or only faintly (13-15 weeks EGA) express RANK. LCs express RANK at levels comparable to adult LCs by the end of the second trimester. Comparable with adult skin, dermal antigen-presenting cells at no gestational age express this marker. These findings indicate that epidermal leukocytes gradually acquire RANK during gestation - a phenomenon previously observed also for other markers on LCs in prenatal human skin.

  15. [New molecular methods in prenatal invasive diagnostics].

    PubMed

    Łaczmańska, Izabela; Stembalska, Agnieszka

    2013-10-01

    New diagnostic techniques employed in laboratories all over the world enable to create new tests for prenatal genetic diagnosis. They include cytogenetics, molecular-cytogenetics and molecular methods. Chromosomal numerical aberrations (aneuploidies) remain to be the most frequent genetic changes diagnosed prenatally Therefore, our paper presents the latest methods used mainly in prenatal diagnosis of the most common chromosome numerical changes, as well as other methods applicable in detecting chromosome structural changes or gene mutations. One of the main advantages of these new approaches is the short period of time needed to obtain a result. Some of these techniques are used world-wide: QF-PCR (Fluorescence Quantitive Polymerase Chain Reaction)--based on the analysis of the short polymorphic sequences characteristic for each individual; MLPA (Multiplex Ligation-dependent Probe Amplification)--based on the probes ligation to complementary genomic fragments in patient DNA; microarray CGH (Comparative Genomic Hybridization)--based on genomic hybridization to microarray, which enables analysis of the entire genome. Other new methods are also gradually introduced to invasive prenatal diagnosis: NGS (Next-generation DNA sequencing)--for the analysis of the whole genome at the DNA level; BoBs (BACS-on-Beads)--molecular-cytogenetic technique based on hybridization of probes immobilized on polystyrene microspheres with fetal DNA. Nowadays, rapid diagnosis of the most common chromosomal aneuploidies is not a standard procedure in Poland, as opposed to cytogenetics (karyotyping). However, for specific clinical indications, fast and reliable methods of genetic analysis present are likely to become standard procedures in prenatal diagnosis.

  16. Prenatal risk factors for childhood CKD.

    PubMed

    Hsu, Christine W; Yamamoto, Kalani T; Henry, Rohan K; De Roos, Anneclaire J; Flynn, Joseph T

    2014-09-01

    Development of CKD may be programmed prenatally. We sought to determine the association of childhood CKD with prenatal risk factors, including birth weight, maternal diabetes mellitus (DM), and maternal overweight/obesity. We conducted a population-based, case-control study with 1994 patients with childhood CKD (<21 years of age at diagnosis) and 20,032 controls in Washington state. We linked maternal and infant characteristics in birth records from 1987 to 2008 to hospital discharge data and used logistic regression analysis to assess the association of prenatal risk factors with childhood CKD. The prevalence of CKD was 126.7 cases per 100,000 births. High birth weight and maternal pregestational DM associated nominally with CKD, with respective crude odds ratios (ORs) of 1.17 (95% confidence interval [95% CI], 1.03 to 1.34) and 1.97 (95% CI, 1.15 to 3.37); however, adjustment for maternal confounders attenuated these associations to 0.97 (95% CI, 0.79 to 1.21) and 1.19 (95% CI, 0.51 to 2.81), respectively. The adjusted ORs for CKD associated with other prenatal factors were 2.88 (95% CI, 2.28 to 3.63) for low birth weight, 1.54 (95% CI, 1.13 to 2.09) for maternal gestational DM, 1.24 (95% CI, 1.05 to 1.48) for maternal overweight, and 1.26 (95% CI, 1.05 to 1.52) for maternal obesity. In subgroup analysis by CKD subtype, low birth weight and maternal pregestational DM associated significantly with increased risk of renal dysplasia/aplasia. Low birth weight, maternal gestational DM, and maternal overweight/obesity associated significantly with obstructive uropathy. These data suggest that prenatal factors may impact the risk of CKD. Future studies should aim to determine if modification of these factors could reduce the risk of childhood CKD.

  17. Ultrasound covers and sonographic gels are embryo-toxic and could be replaced by non-toxic polyethylene bags and paraffin oil.

    PubMed

    Van der Auwera, I; D'Hooghe, T M

    1998-08-01

    The objective of this study was to test the hypothesis that ultrasound covers and sonographic gels, used during vaginal ultrasound, are toxic for mouse embryonic development in vitro. A prospective randomized design was used on pronucleate ova of F1 hybrid CBA x C57Bl female mice. The mice were superovulated with pregnant mare's serum gonadotrophin and human chorionic gonadotrophin and mated with CBA x C57Bl males. The pronucleate ova were randomly divided between culture media with the addition of commercially available ultrasound covers and sonographic gels in different concentrations. As controls and potential alternatives, plastic polyethylene bags and paraffin oil were tested simultaneously. Embryo-toxicity was assessed by documenting cleavage capacity, blastocyst formation and embryo degeneration in vitro. Exposure of culture medium to the ultrasound covers and sonographic gels tested resulted in a severely reduced cleavage capacity, a high incidence of embryo degeneration and absent or impaired blastocyst formation. This toxic effect could be reduced by high dilutions in vitro. In contrast, plastic polyethylene bags and paraffin oil had no influence on in-vitro development of mouse ova. We conclude that commercially available ultrasound latex covers and sonographic gels are toxic for mouse embryos and can potentially influence embryonic development during infertility treatment. It is safer to perform vaginal ultrasonic measurements using non-toxic paraffin oil (as contact fluid) and plastic polyethylene bags (as ultrasonic cover).

  18. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

    PubMed Central

    Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne; Bianchi, Diana W; Bergmann, Carsten; Borry, Pascal; Chitty, Lyn S; Fellmann, Florence; Forzano, Francesca; Hall, Alison; Henneman, Lidewij; Howard, Heidi C; Lucassen, Anneke; Ormond, Kelly; Peterlin, Borut; Radojkovic, Dragica; Rogowski, Wolf; Soller, Maria; Tibben, Aad; Tranebjærg, Lisbeth; van El, Carla G; Cornel, Martina C

    2015-01-01

    This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non

  19. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

    PubMed

    Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne; Bianchi, Diana W; Bergmann, Carsten; Borry, Pascal; Chitty, Lyn S; Fellmann, Florence; Forzano, Francesca; Hall, Alison; Henneman, Lidewij; Howard, Heidi C; Lucassen, Anneke; Ormond, Kelly; Peterlin, Borut; Radojkovic, Dragica; Rogowski, Wolf; Soller, Maria; Tibben, Aad; Tranebjærg, Lisbeth; van El, Carla G; Cornel, Martina C

    2015-11-01

    This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non

  20. Cell-free fetal DNA in maternal plasma and noninvasive prenatal diagnosis.

    PubMed

    Ramos, Ester Silveira

    2006-01-01

    The noninvasive nature of the detection of fetal DNA in the maternal circulation represents the greatest advantage over the conventional methods of prenatal diagnosis. The applications of this methodology involve the detection of the fetal sex, and diagnosis, intra-uterine treatment, and evaluation of the prognosis of many diseases. Fetal cells detected in the maternal circulation have also been shown to be implicated in autoimmune diseases and to represent a potential source of stem cells. On the other hand, with the introduction of a technology that detects the fetal sex as early as at 6-8 weeks of gestation, there is the possibility of early abortion based on sex selection for social purposes. This implies an ethical discussion about the question. The introduction of new noninvasive techniques of prenatal diagnosis and the knowledge of the Nursing Team regarding new methodologies can be of great benefit to the mother and her children, and can help the Genetic Counseling of the families.

  1. First Trimester Ultrasound in Prenatal Diagnosis-Part of the Turning Pyramid of Prenatal Care.

    PubMed

    Neiger, Ran

    2014-09-05

    First-trimester sonographic assessment of the risk of chromosomal abnormalities is routinely performed throughout the world, primarily by measuring fetal nuchal translucency thickness between 11-13 weeks' gestation, combined with assessment of serum markers. The development of high-frequency transvaginal transducers has led to improved ultrasound resolution and better visualization of fetal anatomy during the first-trimester. Continuous improvement in ultrasound technology allows a thorough detailed assessment of fetal anatomy at the time of the nuchal translucency study. Using transabdominal or transvaginal sonography, or a combination of both approaches, it is now possible to diagnose a wide range of fetal anomalies during the first trimester. Multiple studies reported early diagnosis of major fetal anomalies after demonstrating the association of increased nuchal translucency thickness with structural defect in chromosomally normal and abnormal fetuses. Normal sonographic findings provide reassurance for women at high risk while detection of fetal malformation during the first trimester enables discussion and decisions about possible treatments and interventions, including termination of pregnancy, during an early stage of pregnancy.

  2. First Trimester Ultrasound in Prenatal Diagnosis—Part of the Turning Pyramid of Prenatal Care

    PubMed Central

    Neiger, Ran

    2014-01-01

    First-trimester sonographic assessment of the risk of chromosomal abnormalities is routinely performed throughout the world, primarily by measuring fetal nuchal translucency thickness between 11–13 weeks’ gestation, combined with assessment of serum markers. The development of high-frequency transvaginal transducers has led to improved ultrasound resolution and better visualization of fetal anatomy during the first-trimester. Continuous improvement in ultrasound technology allows a thorough detailed assessment of fetal anatomy at the time of the nuchal translucency study. Using transabdominal or transvaginal sonography, or a combination of both approaches, it is now possible to diagnose a wide range of fetal anomalies during the first trimester. Multiple studies reported early diagnosis of major fetal anomalies after demonstrating the association of increased nuchal translucency thickness with structural defect in chromosomally normal and abnormal fetuses. Normal sonographic findings provide reassurance for women at high risk while detection of fetal malformation during the first trimester enables discussion and decisions about possible treatments and interventions, including termination of pregnancy, during an early stage of pregnancy. PMID:26237489

  3. Prenatally evolving ectopia cordis with successful surgical treatment.

    PubMed

    Sadłecki, Paweł; Krekora, Michał; Krasomski, Grzegorz; Walentowicz-Sadłecka, Małgorzata; Grabiec, Marek; Moll, Jacek; Respondek-Liberska, Maria

    2011-01-01

    Ectopia cordis (EC) is a rare malformation due to failure of maturation of the midline mesodermal components of the chest and abdomen. It can be defined as a complete or partial displacement of the heart outside the thoracic cavity. It comprises 0.1% of congenital heart diseases. Common cardiac anomalies associated with EC are ventricular septal defect, atrial septal defect, and tetralogy of Fallot. EC and additional anomalies usually lead to intrauterine death. The possibility and efficacy of surgery in a surviving neonate depends on the degree of EC, coexisting congenital heart defects and extracardiac malformations. We present a case of prenatally diagnosed isolated EC diagnosed in the first half of pregnancy. After counseling, the patient decided to continue her pregnancy which ended with a newborn baby discharged from the hospital after cardiac surgery performed just after elective cesarean section.

  4. A Novel Intronic Splice Site Tafazzin Gene Mutation Detected Prenatally in a Family with Barth Syndrome

    PubMed Central

    Bakšienė, M; Benušienė, E; Morkūnienė, A; Ambrozaitytė, L; Utkus, A; Kučinskas, V

    2016-01-01

    Abstract Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of cardiolipin and abnormalities in mitochondria stability and energy production. Here we report on a novel c.285-1G>C splice site mutation in intron 3 of the TAZ gene that was detected prenatally. PMID:28289596

  5. Sonographic imaging of extra-testicular focal lesions: comparison of grey-scale, colour Doppler and contrast-enhanced ultrasound

    PubMed Central

    Rafailidis, Vasileios; Robbie, Hasti; Konstantatou, Eleni; Huang, Dean Y; Deganello, Annamaria; Sellars, Maria E; Cantisani, Vito; Isidori, Andrea M

    2016-01-01

    Extra-testicular lesions are usually benign but present with nonspecific grey-scale sonography findings. This study assesses conventional sonographic characteristics in the differentiation of extra-testicular tumoural from inflammatory lesions and whether contrast-enhanced ultrasound has a role. A retrospective database analysis was performed. All patients were examined by experienced sonographers employing standard techniques combining grey-scale, colour Doppler sonography and contrast-enhanced ultrasound. Features recorded were: clinical symptoms, size, location, echogenicity, colour Doppler sonography and contrast-enhanced ultrasound enhancement. Vascularity on colour Doppler sonography and contrast-enhanced ultrasound was graded and compared. The lesions were classified as tumoural or inflammatory. The Chi-square test was used to analyse the sonographic patterns and kappa coefficient to measure the agreement between colour Doppler sonography and contrast-enhanced ultrasound. A total of 30 lesions were reviewed (median diameter 12 mm, range 5–80 mm, median age 52 years, range 18–86 years), including 13/30 tumoural and 17/30 inflammatory lesions. Lesions were hypoechoic (n = 12), isoechoic (n = 6), hyperechoic (n = 2) or mixed (n = 10). Grey-scale characteristics of tumoural vs. inflammatory lesions differed significantly (P = 0.026). On colour Doppler sonography, lesions had no vessels (n = 16), 2–3 vessels (n = 10) and ≥4 vessels (n = 4). On contrast-enhanced ultrasound, lesions showed no vascularity (n = 17), perfusion similar to testis (n = 7) and higher (n = 6). All abscesses identified (n = 9) showed no vascularity on both colour Doppler sonography and contrast-enhanced ultrasound. There was good agreement between these techniques in evaluating vascularity (κ = 0.719) and no significant difference between colour Doppler sonography and contrast-enhanced ultrasound of tumoural vs. inflammatory

  6. Application of a target array Comparative Genomic Hybridization to prenatal diagnosis

    PubMed Central

    2010-01-01

    Background While conventional G-banded karyotyping still remains a gold standard in prenatal genetic diagnoses, the widespread adoption of array Comparative Genomic Hybridization (array CGH) technology for postnatal genetic diagnoses has led to increasing interest in the use of this same technology for prenatal diagnosis. We have investigated the value of our own designed DNA chip as a prenatal diagnostic tool for detecting submicroscopic deletions/duplications and chromosome aneuploidies. Methods We designed a target bacterial artificial chromosome (BAC)-based aCGH platform (MacArray™ M-chip), which specifically targets submicroscopic deletions/duplications for 26 known genetic syndromes of medical significance observed prenatally. To validate the DNA chip, we obtained genomic DNA from 132 reference materials generated from patients with 22 genetic diseases and 94 clinical amniocentesis samples obtained for karyotyping. Results In the 132 reference materials, all known genomic alterations were successfully identified. In the 94 clinical samples that were also subjected to conventional karyotyping, three cases of balanced chromosomal aberrations were not detected by aCGH. However, we identified eight cases of microdeletions in the Yq11.23 chromosomal region that were not found by conventional karyotyping. This region harbors the DAZ gene, and deletions may lead to non-obstructive spermatogenesis. Conclusions We have successfully designed and applied a BAC-based aCGH platform for prenatal diagnosis. This platform can be used in conjunction with conventional karyotyping and will provide rapid and accurate diagnoses for the targeted genomic regions while eliminating the need to interpret clinically-uncertain genomic regions. PMID:20576126

  7. Prenatally diagnosed de novo complex chromosome rearrangements: Two new cases and review of the literature

    SciTech Connect

    Ruiz, C.; Grubs, R.E.; Jewett, T.

    1994-09-01

    Complex chromosome rearrangements (CCR) are rare structural rearrangements involving at least three chromosomes with three or more breakpoints. Although there have been numerous reports of individuals with CCR, most have been ascertained through the presence of multiple congenital anomalies, recurrent pregnancy loss, or infertility. Few cases have been ascertained prenatally. We present two new cases of prenatally ascertained CCR. In the first case, an amniocentesis revealed an apparently balanced de novo rearrangement in which chromosomes 5, 6 and 11 were involved in a three-way translocation: 46,XY,t(6;5)(5;11)(q23;p14.3;q15;p13). The pregnancy was unevenful. Recently, at the age of 9 months, a physical and developmental evaluation were normal but, height, weight, and head circumference were below the 5th percentile. In the second case an amniocentesis revealed an unbalanced de novo rearrangement involving separate translocations and an interstitial deletion: 46,XY,del(6)(q25.3q27),t(3;8)(p13;q21.3),t(6;18)(p11.2;q11.2). A meconium plug was present at birth and at 6 months of age surgery for Hirschsprung`s disease was required. Currently, at 10 months of age, the patient has hypotonia and developmental delay. The paucity of information regarding prenatally diagnosed CCR poses a problem in counseling families. Of the four prenatally diagnosed balanced de novo CCR cases, three had abnormal outcomes. In a review of the literature, approximately 70% of the postnatally ascertained balanced de novo CCR cases were associated with congenital anomalies, growth retardation and/or mental retardation. More information regarding the outcome of prenatally ascertained balanced de novo CCR is required for accurate risk assessment.

  8. Study of prenatal and postnatal development of spleen of Gallus Domesticus (deshi chicken).

    PubMed

    Khalil, M; Sultana, S Z; Rahman, M; Mannan, S; Ahmed, S; Ara, Z G; Sultana, Z R; Chowdhury, A I

    2009-07-01

    Spleen is one of the secondary or peripheral lymphoid organs along with cecal tonsils in birds. The growth of the spleen of Gallus Domesticus (deshi chicken) from prenatal embryonic day fifteen (ED15) to postnatal day ninety (D90) were studied. In macroscopic study it was found that the shape of the spleen was rounded with slightly flattened from side to side at its middle part at prenatal period (ED15, ED18) and becomes rounded at postnatal stages of the deshi chicken (D90). Regarding position it lies close to the right side of the junction between proventriculus and gizzard and was similar in prenatal and postnatal stages. The result of the present study revealed that the mean diameter and weight of the spleen in deshi chicken gradually increases with increase of age, which were 2.00+/-0.136mm and 0.007+/-0.00gm respectively at ED15 stage and it reaches upto 10.40+/-0.331mm and .303+/-0.004gm respectively at day 90 (D90). It was observed that the differences of diameter & weight of the spleen between different ages were statistically significant (p<0.01). Histologically the spleen was surrounded by thin capsule in prenatal life, which gradually becomes thicker in postnatal life. The splenic pulps were not differentiated into white and red pulp on 15th day of embryonic life (ED15) but they were gradually differentiated into white and red pulp in the late prenatal (ED18) and postnatal period. The growth and development of spleen at each stage of the study period were found to be significantly high. Present study indicates that chicken splenic cell population, structure and function were similar to human spleen histologically. It was also found that the chicken embryo allows easy experimental access to all the stages of the splenic development, so the present study will be helpful for experimentation on lymphoid organs and to understand pathophysiology of immunological diseases of human.

  9. Programming Effects of Prenatal Glucocorticoid Exposure with a Postnatal High-Fat Diet in Diabetes Mellitus

    PubMed Central

    Sheen, Jiunn-Ming; Hsieh, Chih-Sung; Tain, You-Lin; Li, Shih-Wen; Yu, Hong-Ren; Chen, Chih-Cheng; Tiao, Miao-Meng; Chen, Yu-Chieh; Huang, Li-Tung

    2016-01-01

    Increasing evidence has shown that many chronic diseases originate from early life, even before birth, through what are termed as fetal programming effects. Glucocorticoids are frequently used prenatally to accelerate the maturation of the lungs of premature infants. High-fat diets are associated with insulin resistance, but the effects of prenatal glucocorticoid exposure plus a postnatal high-fat diet in diabetes mellitus remain unclear. We administered pregnant Sprague-Dawley rats’ intraperitoneal dexamethasone (0.1 mg/kg body weight) or vehicle at gestational days 14–20. Male offspring were administered a normal or high-fat diet starting from weaning. We assessed the effects of prenatal steroid exposure plus postnatal high-fat diet on the liver, pancreas, muscle and fat at postnatal day 120. At 15 and 30 min, sugar levels were higher in the dexamethasone plus high-fat diet (DHF) group than the vehicle plus high-fat diet (VHF) group in the intraperitoneal glucose tolerance test (IPGTT). Serum insulin levels at 15, 30 and 60 min were significantly higher in the VHF group than in the vehicle and normal diet group. Liver insulin receptor and adenosine monophosphate-activated protein kinase mRNA expressions and protein levels were lower in the DHF group. Insulin receptor and insulin receptor substrate-1 mRNA expressions were lower in the epididymal adipose tissue in the VHF and DHF groups. “Programming” of liver or epididymal adipose tissue resulted from prenatal events. Prenatal steroid exposure worsened insulin resistance in animals fed a high-fat diet. PMID:27070590

  10. Fetal cells in maternal blood: state of the art for non-invasive prenatal diagnosis.

    PubMed

    Ho, S S; O'Donoghue, K; Choolani, M

    2003-09-01

    In Singapore, 1 in 5 pregnancies occur in mothers > 35 years old and genetic diseases, such as thalassaemia, are common. Current methods for the diagnosis of aneuploidy and monogenic disorders require invasive testing by amniocentesis, chorion villus biopsy or fetal blood sampling. These tests carry a procedure-related risk of miscarriage that is unacceptable to many couples. Development of non-invasive methods for obtaining intact fetal cells would allow accurate prenatal diagnosis for aneuploidy and single gene disorders, without the attendant risks associated with invasive testing, and would increase the uptake of prenatal diagnosis by women at risk. Isolation of fetal erythroblasts from maternal blood should allow accurate non-invasive prenatal diagnosis of both aneuploidies and monogenic disorders. Expression of gamma-globin in maternal erythroblasts and the inability to locate fetal erythroblasts reliably in all pregnancies have prevented its clinical application. In the absence of a highly specific fetal cell marker, enrichment, identification and diagnosis--the 3 components of non-invasive prenatal diagnosis--have clearly defined objectives. Since fetal cells are rare in maternal blood, the sole purpose of enrichment is yield--to recover as many fetal cells as possible--even if purity is compromised at this stage. In contrast, the primary goal of identification is specificity; absolute certainty of fetal origin is required at this stage if the ultimate objective of diagnosis, accuracy, is to be achieved. This review summarises the current state of the art of non-invasive prenatal diagnosis using fetal erythroblasts enriched from maternal blood.

  11. Prenatal maternal depression is associated with offspring inflammation at 25 years: a prospective longitudinal cohort study

    PubMed Central

    Plant, D T; Pawlby, S; Sharp, D; Zunszain, P A; Pariante, C M

    2016-01-01

    Animal studies and a handful of prospective human studies have demonstrated that young offspring exposed to maternal prenatal stress show abnormalities in immune parameters and hypothalamic–pituitary–adrenal (HPA) axis function. No study has examined the effect of maternal prenatal depression on offspring inflammation and HPA axis activity in adulthood, nor the putative role of child maltreatment in inducing these abnormalities. High-sensitivity C-reactive protein (hs-CRP) and awakening cortisol were measured at age 25 in 103 young-adult offspring of the South London Child Development Study (SLCDS), a prospective longitudinal birth cohort of mother–offspring dyads recruited in pregnancy in 1986. Maternal prenatal depression was assessed in pregnancy at 20 and 36 weeks; offspring child maltreatment (birth 17 years) was assessed at offspring ages 11, 16 and 25; and offspring adulthood depression (18–25 years) was assessed at age 25. Exposure to maternal prenatal depression predicted significantly elevated offspring hs-CRP at age 25 (odds ratio=11.8, 95% confidence interval (CI) (1.1, 127.0), P=0.041), independently of child maltreatment and adulthood depression, known risk factors for adulthood inflammation. In contrast, maternal prenatal depression did not predict changes in offspring adulthood cortisol; however, offspring exposure to child maltreatment did, and was associated with elevated awakening cortisol levels (B=161.9, 95% CI (45.4, 278.4), P=0.007). Fetal exposure to maternal depression during pregnancy has effects on immune function that persist for up to a quarter of a century after birth. Findings are consistent with the developmental origins of health and disease (DOHaD) hypothesis for the biological embedding of gestational psychosocial adversity into vulnerability for future physical and mental illness. PMID:27801895

  12. A cost-savings analysis of prenatal interventions.

    PubMed

    Bonifield, S L

    1998-01-01

    Proper prenatal care has long been established as the single most important factor in improving both maternal and infant health (Henderson 1994) yet the United States remains one of only two industrialized nations that have yet to ensure universal healthcare for pregnant women (National Center for Farmworker Health, Inc. 1997). Through clinical innovations, many progressive interventions now available are not only medically effective but also financially prudent. This study addresses the efficacy and feasibility and discusses the policy implications of the following four prenatal programs: universal prenatal screening for the human immunodeficiency virus, prenatal carrier screening for cystic fibrosis, condition-specific care for pregnant diabetics, and prenatal nutrition counseling. The healthcare community is challenged to expand the breadth of routine prenatal care to include those services that are both financially sensible and clinically imperative.

  13. Confirmation of prenatal diagnosis of sex chromosome mosaicism.

    PubMed

    McFadden, D E; Kalousek, D K

    1989-04-01

    Prenatal diagnosis of mosaicism causes problems in interpretation and in genetic counselling. Part of the difficulty with any prenatal diagnosis of mosaicism is interpretation of results without knowing the exact origin, embryonic or extraembryonic, of the abnormal cell line. To confuse the issue in cases of prenatal diagnosis of 45,X/46,XY mosaicism is the recent demonstration that a diagnosis of 45,X/46,XY made prenatally is not necessarily associated with the same phenotype as when diagnosed postnatally. We present two cases of prenatal diagnosis of sex chromosome mosaicism (45,X/46,XY and 45,X/47,XYY). Posttermination examination of the phenotypically normal male fetuses and their placentas established that the placenta was the most likely source of the 45,X cell line. An approach to confirming the prenatal diagnosis of sex chromosome mosaicism and establishing its origin utilizing detailed cytogenetic examination of both fetus and placenta is suggested.

  14. Social class, prenatal care, maternal age and parity: a study of their interrelation in six Italian centres.

    PubMed

    Cortinovis, I; Boracchi, P; De Scrilli, A; Milani, S; Bertulessi, C; Zuliani, G; Bevilacqua, G; Corchia, C; Davanzo, R; Selvaggi, L

    1986-01-01

    "Multiple Correspondence Analysis was used to describe the complex structure formed by those sociodemographic variables, whose association with the occurrence of prenatal and neonatal deaths and diseases has been most frequently stressed in literature: social class, prenatal care, maternal age and parity. The study regards 41,537 women included in a multicentre survey of perinatal preventive medicine, which was carried out, between 1973 and 1979, in six Italian centres...." It is found that "in all centres there are distinct groups of women characterized by a set of unfavourable factors closely interrelated: low social class implies lower prenatal care, higher occurrence of precocious or belated childbearing and higher number of pregnancies, often unintended." (SUMMARY IN FRE AND ITA)

  15. Outcome of prenatally diagnosed trisomy 6 mosaicism.

    PubMed

    Wallerstein, Robert; Oh, Tracey; Durcan, Judy; Abdelhak, Yaakov; Clachko, Mark; Aviv, Hana

    2002-08-01

    We report the prenatal diagnosis of trisomy 6 mosaicism via amniocentesis, in which trisomy 6 cells were identified in three of five culture vessels with 33% (5/15) of colonies showing trisomic cells. The pregnancy was electively terminated and examination revealed minor abnormalities (shortening of the femurs, micrognathia, posterior malrotation of the ears, and bilateral camptomelia of the second digit of the hands and fifth digits of the feet). Cytogenetic analysis of the placenta showed trisomy 6 in 100% of 20 cells studied. Karyotype was 46,XX in 100 cells examined from fetal skin. There are relatively few prenatally diagnosed cases of mosaic trisomy 6 at amniocentesis. Confined placental mosaicism (CPM) has been postulated in other cases where follow-up cytogenetic studies were not available. The present case differs from those previously reported, as it appears to represent CPM of chromosome 6 with phenotypic effects to the fetus.

  16. Religious Traditions and Prenatal Genetic Counseling

    PubMed Central

    Anderson, Rebecca Rae

    2009-01-01

    Members of organized religious groups may look to their faith traditions for guidance regarding the moral implications of prenatal diagnosis and intervention. Many denominations have doctrinal statements relevant to these deliberations. In this paper, common spiritual issues arising in the genetic counseling encounter are described. Representative doctrinal positions, derived from the responses of 31 U.S. religious denominations to a survey relating to prenatal genetic counseling, are given. Because the long-term adjustment of patients may be dependent in part on their ability to reconcile their actions with their faith traditions, genetic counselors best serve their patients when they invite discussion of matters of faith. Unless invited, patients may assume these topics are ‘off limits’ or that care providers are indifferent to their beliefs. Although genetics professionals ought not assume the role of spiritual advisor, a working knowledge of doctrinal approaches should help counselors frame the issues, and avoid missteps. PMID:19170093

  17. Prenatal nutritional influence on skeletal development.

    PubMed

    Curtis, Elizabeth; Cheah, Jonathan; Harvey, Nicholas C

    2013-01-01

    There is increasing evidence to suggest that prenatal nutritional factors may have long-term effects on the offspring. Osteoporosis is a worldwide public health problem leading to both morbidity and mortality, through associated bone fractures. Although in clinical practice most effort in fracture prevention is aimed at slowing the rate of age-related bone loss, there is accumulating evidence that peak bone mass, achieved in early adulthood, is an important factor in determining bone strength in later life. A variety of studies have shown that peak bone mass is influenced by early life events, including nutrition in the prenatal period. This chapter will use the example of bone development to consider the effects of maternal diet and nutritional status on the offspring.

  18. Sonographic assessment of the effect of vesicoureteral reflux and urinary tract infections on growth of the pediatric solitary kidney

    PubMed Central

    Ross, Ishai; Ahn, Hyeong Jun; Roelof, Brian; Barber, Theodore; Huynh, Virginia; Rockette, Alisha; Popovic, Mihailo; Chen, John J.; Steinhardt, George

    2015-01-01

    Summary Introduction Perusal of recent guidelines relating to proper evaluation of infants and children with urinary tract infection (UTI) suggests that the occurrence of vesicoureteral reflux (VUR) may not have the clinical import previously ascribed to this anatomic abnormality. Patients with a solitary kidney uniquely allow investigation of the effects of both vesicoureteral reflux (VUR) and urinary tract infection (UTI) on renal growth unencumbered with the inevitable questions of laterality that confound analysis in patients with two kidneys. Several previous studies with conflicting results have addressed whether vesicoureteral reflux (VUR) impacts ultimate renal size in children with a solitary kidney. Few published studies have considered the occurrence of both urinary tract infection (UTI) and VUR on the degree of compensatory hypertrophy. This is the largest series to date investigating the effect of both UTI and VUR on the degree of compensatory hypertrophy with time. Objective Our objective was to analyze sonographically determined renal growth in patients with a solitary kidney, stratifying for both the occurrence and severity of UTIs and the occurrence and severity of VUR. Study design We retrospectively reviewed the clinical history (including bladder and bowel dysfunction (BBD)) and radiology reports of 145 patients identified as having either a congenital or acquired solitary kidney in our pediatric urology practice from the prior 10 years. UTIs were tabulated by severity, where possible, and the grade of VUR was recorded based on the initial cystogram. Sonographically determined renal length was tabulated for all ultrasounds obtained throughout the study. Based on a mixed-effects model, we investigated the influence of UTI and VUR on renal growth. Results Of the 145 patients analyzed, 105 had no VUR and 39 had VUR (16 = Gr I&II, 11 = GIII, 12 = GIV&V). Comparison showed that there was no difference in the occurrence of UTI between those without

  19. Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

    PubMed Central

    Wapner, Ronald J.; Martin, Christa Lese; Levy, Brynn; Ballif, Blake C.; Eng, Christine M.; Zachary, Julia M.; Savage, Melissa; Platt, Lawrence D.; Saltzman, Daniel; Grobman, William A.; Klugman, Susan; Scholl, Thomas; Simpson, Joe Leigh; McCall, Kimberly; Aggarwal, Vimla S.; Bunke, Brian; Nahum, Odelia; Patel, Ankita; Lamb, Allen N.; Thom, Elizabeth A.; Beaudet, Arthur L.; Ledbetter, David H.; Shaffer, Lisa G.; Jackson, Laird

    2013-01-01

    Background Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis. Methods Samples from women undergoing prenatal diagnosis at 29 centers were sent to a central karyotyping laboratory. Each sample was split in two; standard karyotyping was performed on one portion and the other was sent to one of four laboratories for chromosomal microarray. Results We enrolled a total of 4406 women. Indications for prenatal diagnosis were advanced maternal age (46.6%), abnormal result on Down’s syndrome screening (18.8%), structural anomalies on ultrasonography (25.2%), and other indications (9.4%). In 4340 (98.8%) of the fetal samples, microarray analysis was successful; 87.9% of samples could be used without tissue culture. Microarray analysis of the 4282 nonmosaic samples identified all the aneuploidies and unbalanced rearrangements identified on karyotyping but did not identify balanced translocations and fetal triploidy. In samples with a normal karyotype, microarray analysis revealed clinically relevant deletions or duplications in 6.0% with a structural anomaly and in 1.7% of those whose indications were advanced maternal age or positive screening results. Conclusions In the context of prenatal diagnostic testing, chromosomal microarray analysis identified additional, clinically significant cytogenetic information as compared with karyotyping and was equally efficacious in identifying aneuploidies and unbalanced rearrangements but did not identify balanced translocations and triploidies. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others; ClinicalTrials.gov number, NCT01279733.) PMID:23215555

  20. Prenatal investments, breastfeeding, and birth order.

    PubMed

    Buckles, Kasey; Kolka, Shawna

    2014-10-01

    Mothers have many opportunities to invest in their own or their child's health and well-being during pregnancy and immediately after birth. These investments include seeking prenatal care, taking prenatal vitamins, and breastfeeding. In this paper, we investigate a potential determinant of mothers' investments that has been largely overlooked by previous research-birth order. Data are from the National Longitudinal Study of Youth 1979 (NLSY79) Child and Young Adult Survey, which provides detailed information on pre- and post-natal behaviors of women from the NLSY79. These women were between the ages of 14 and 22 in 1979, and form a nationally representative sample of youth in the United States. Our sample includes births to these women between 1973 and 2010 (10,328 births to 3755 mothers). We use fixed effects regression models to estimate within-mother differences in pre- and post-natal behaviors across births. We find that mothers are 6.6 percent less likely to take prenatal vitamins in a fourth or higher-order birth than in a first and are 10.6 percent less likely to receive early prenatal care. Remarkably, mothers are 15.4 percent less likely to breastfeed a second-born child than a first, and are 20.9 percent less likely to breastfeed a fourth or higher-order child. These results are not explained by changing attitudes toward investments over time. These findings suggest that providers may want to increase efforts to encourage these behaviors at women with higher parity. The results also identify a potential mechanism for the emergence of differences in health and other outcomes across birth orders.

  1. Prenatal programming of neuroendocrine reproductive function.

    PubMed

    Evans, Neil P; Bellingham, Michelle; Robinson, Jane E

    2016-07-01

    It is now well recognized that the gestational environment can have long-lasting effects not only on the life span and health span of an individual but also, through potential epigenetic changes, on future generations. This article reviews the "prenatal programming" of the neuroendocrine systems that regulate reproduction, with a specific focus on the lessons learned using ovine models. The review examines the critical roles played by steroids in normal reproductive development before considering the effects of prenatal exposure to exogenous steroid hormones including androgens and estrogens, the effects of maternal nutrition and stress during gestation, and the effects of exogenous chemicals such as alcohol and environment chemicals. In so doing, it becomes evident that, to maximize fitness, the regulation of reproduction has evolved to be responsive to many different internal and external cues and that the GnRH neurosecretory system expresses a degree of plasticity throughout life. During fetal life, however, the system is particularly sensitive to change and at this time, the GnRH neurosecretory system can be "shaped" both to achieve normal sexually differentiated function but also in ways that may adversely affect or even prevent "normal function". The exact mechanisms through which these programmed changes are brought about remain largely uncharacterized but are likely to differ depending on the factor, the timing of exposure to that factor, and the species. It would appear, however, that some afferent systems to the GnRH neurons such as kisspeptin, may be critical in this regard as it would appear to be sensitive to a wide variety of factors that can program reproductive function. Finally, it has been noted that the prenatal programming of neuroendocrine reproductive function can be associated with epigenetic changes, which would suggest that in addition to direct effects on the exposed offspring, prenatal programming could have transgenerational effects on

  2. Postnatal Depression Prevention Through Prenatal Intervention: A Literature Review

    DTIC Science & Technology

    2006-03-17

    postpartum depression. Despite this knowledge, the prevalence rates of depression are high and prenatal depression (PND) may go unrecognized by the healthcare...depression has a prevalence rate of 20%, while postpartum depression affects 11% of previously pregnant women (Tycbey et al., 2005). One of the goals of...on prenatal care and postpartum depression, however, the issue of prenatal depression is often overlooked and the majority of the studies reviewed

  3. Prenatal care through the eyes of Canadian Aboriginal women.

    PubMed

    Di Lallo, Sherri

    2014-01-01

    The Aboriginal Prenatal Wellness Program (APWP) in Canada represents a culturally safe approach to prenatal care. By understanding the history of colonization and residential schools and how this history has contributed to health disparities, a multidisciplinary team provides culturally competent and integrated prenatal care to Aboriginal women and their families. This article describes the APWP and discusses how increased participation in health care by historically marginalized populations can lead to better maternal and neonatal health outcomes.

  4. In defense of prenatal genetic interventions.

    PubMed

    Murphy, Timothy F

    2014-09-01

    Jürgen Habermas has argued against prenatal genetic interventions used to influence traits on the grounds that only biogenetic contingency in the conception of children preserves the conditions that make the presumption of moral equality possible. This argument fails for a number of reasons. The contingency that Habermas points to as the condition of moral equality is an artifact of evolutionary contingency and not inviolable in itself. Moreover, as a precedent for genetic interventions, parents and society already affect children's traits, which is to say there is moral precedent for influencing the traits of descendants. A veil-of-ignorance methodology can also be used to justify prenatal interventions through its method of advance consent and its preservation of the contingency of human identities in a moral sense. In any case, the selection of children's traits does not undermine the prospects of authoring a life since their future remains just as contingent morally as if no trait had been selected. Ironically, the prospect of preserving human beings as they are--to counteract genetic drift--might even require interventions to preserve the ability to author a life in a moral sense. In light of these analyses, Habermas' concerns about prenatal genetic interventions cannot succeed as objections to their practice as a matter of principle; the merits of these interventions must be evaluated individually.

  5. Prenatal Diagnosis of Non-Syndromic Congenital Heart Defects

    PubMed Central

    Ailes, Elizabeth C.; Gilboa, Suzanne M.; Riehle-Colarusso, Tiffany; Johnson, Candice Y.; Hobbs, Charlotte A.; Correa, Adolfo; Honein, Margaret A.

    2015-01-01

    Objectives Congenital heart defects (CHDs) occur in nearly 1% of live births. We sought to assess factors associated with prenatal CHD diagnosis in the National Birth Defects Prevention Study (NBDPS). Methods We analyzed data from mothers with CHD-affected pregnancies from 1998–2005. Prenatal CHD diagnosis was defined as affirmative responses to questions about abnormal prenatal ultrasounds and/or fetal echocardiography obtained during a structured telephone interview. Results Fifteen percent (1,097/7,299) of women with CHD-affected pregnancies (excluding recognized syndromes and single-gene disorders) reported receiving a prenatal CHD diagnosis. Prenatal CHD diagnosis was positively associated with advanced maternal age, family history of CHD, type 1 or type 2 diabetes, twin or higher order gestation, CHD complexity and presence of extracardiac defects. Prenatal CHD diagnosis was inversely associated with maternal Hispanic race/ethnicity, prepregnancy overweight or obesity, and pre-existing hypertension. Prenatal CHD diagnosis varied by time to NBDPS interview and NBDPS study site. Conclusions Further work is warranted to identify reasons for the observed variability in maternal reports of prenatal CHD diagnosis and the extent to which differences in health literacy or health system factors such as access to specialized prenatal care and/or fetal echocardiography may account for such variability. PMID:24222433

  6. Early origins of inflammation: an examination of prenatal and childhood social adversity in a prospective cohort study

    PubMed Central

    Slopen, Natalie; Loucks, Eric B.; Appleton, Allison A.; Kawachi, Ichiro; Kubzansky, Laura D.; Non, Amy L.; Buka, Stephen; Gilman, Stephen E.

    2014-01-01

    Background Children exposed to social adversity carry a greater risk of poor physical and mental health into adulthood. This increased risk is thought to be due, in part, to inflammatory processes associated with early adversity that contribute to the etiology of many adult illnesses. The current study asks whether aspects of the prenatal social environment are associated with levels of inflammation in adulthood, and whether prenatal and childhood adversity both contribute to adult inflammation. Methods We examined associations of prenatal and childhood adversity assessed through direct interviews of participants in the Collaborative Perinatal Project between 1959–1974 with blood levels of C-reactive protein in 355 offspring interviewed in adulthood (mean age=42.2 years). Linear and quantile regression models were used to estimate the effects of prenatal adversity and childhood adversity on adult inflammation, adjusting for age, sex, and race and other potential confounders. Results In separate linear regression models, high levels of prenatal and childhood adversity were associated with higher CRP in adulthood. When prenatal and childhood adversity were analyzed together, our results support the presence of an effect of prenatal adversity on (log) CRP level in adulthood (β=0.73, 95% CI: 0.26, 1.20) that is independent of childhood adversity and potential confounding factors including maternal health conditions reported during pregnancy. Supplemental analyses revealed similar findings using quantile regression models and logistic regression models that used a clinically-relevant CRP threshold (>3 mg/L). In a fully-adjusted model that included childhood adversity, high prenatal adversity was associated with a 3-fold elevated odds (95% CI: 1.15, 8.02) of having a CRP level in adulthood that indicates high risk of cardiovascular disease. Conclusions Social adversity during the prenatal period is a risk factor for elevated inflammation in adulthood independent of

  7. Prenatal screening and prenatal diagnosis: contemporary practices in light of the past.

    PubMed

    Iltis, Ana S

    2016-06-01

    The 20th century eugenics movement in the USA and contemporary practices involving prenatal screening (PNS), prenatal diagnosis (PND), abortion and preimplantation genetic diagnosis (PGD) share important morally relevant similarities. I summarise some features of the 20th century eugenics movement; describe the contemporary standard of care in the USA regarding PNS, PND, abortion and PGD; and demonstrate that the 'old eugenics' the contemporary standard of care share the underlying view that social resources should be invested to prevent the birth of people with certain characteristics. This comparison makes evident the difficulty of crafting moral arguments that treat some uses of PNS, PND, abortion and PGD as licit and others as illicit.

  8. Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy.

    PubMed

    Goossens, M; Dumez, Y; Kaplan, L; Lupker, M; Chabret, C; Henrion, R; Rosa, J

    1983-10-06

    To investigate the usefulness of chorionic biopsy for prenatal diagnosis of sickle-cell anemia by restriction-endonuclease analysis of fetal DNA, we studied 30 pregnancies before elective abortion. When the reproducibility of the technique for obtaining adequate DNA samples was established, we successfully applied the test to five pregnancies at risk for sickle-cell anemia. In two cases, sickle-cell disease of the fetus led to a decision to terminate the pregnancy. In three other cases, a normal or AS genotype was demonstrated. One normal infant has been born, and one other pregnancy is continuing normally. In one case in which fetal death was observed three weeks after sampling, placental abnormalities found on histologic examination were compatible with a chromosomal aberration. Our study shows that chorionic biopsy is feasible for the prenatal diagnosis of sickle-cell disease before the 10th gestational week. If subsequent experience demonstrates this technique to be safe enough for mother and fetus, the ability to test in early pregnancy may make prenatal diagnosis acceptable to more couples at risk for serious genetic disorders.

  9. Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling.

    PubMed

    Terzi, Y K; Oguzkan-Balci, S; Anlar, B; Aysun, S; Guran, S; Ayter, S

    2009-01-01

    Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders affecting approximately 1/3500 individuals in all ethnic groups. It is characterized by cutaneous and plexiform neurofibromas, café-au-lait spots, Lisch nodules, freckling in axillary and inguinal regions, optic gliomas and an increased risk of malignancy. The mutation rate of NF1 is one of the highest known for human disorders: approximately 50% of all affected individuals carry de novo mutations. Detection of disease causing mutations in the NF1 gene allows presymptomatic and prenatal diagnosis, but is complex and time-consuming due to the large size of the gene, the existence of pseudogenes, the lack of clustering of the mutations in a particular region of the gene, and the variability of clinical findings. Because the time for investigations in prenatal diagnosis is restricted, detection of disease-associated NF1 alleles is more rapid and useful especially for familial cases. Therefore, genetic diagnosis of NF1 is frequently performed by linkage analysis. In our laboratory, 37 families were characterized with this method, of which two requested prenatal diagnosis. One fetus was found to be under NF1 risk. However, parents elected to continue pregnancy: the child is now 2.5 years old and has NF1 features. The phenotypic variability and the absence of genotype-phenotype correlation create difficulties in reproductive decisions for NF1 families, underlining the importance of appropriate counseling and detailed discussion of possible outcomes before genetic testing of the fetus.

  10. Noninvasive prenatal diagnosis using ccffDNA in maternal blood: state of the art.

    PubMed

    Bustamante-Aragones, Ana; Gonzalez-Gonzalez, Cristina; de Alba, Marta Rodriguez; Ainse, Eva; Ramos, Carmen

    2010-03-01

    Owing to the risk of fetal loss associated with prenatal diagnostic procedures, the last decade has seen great developments in noninvasive prenatal diagnosis (NIPD). The discovery of circulating cell-free fetal DNA (ccffDNA) in maternal plasma has opened new lines of research in alternative technologies that may facilitate safe diagnosis. Because ccffDNA represents only a small fraction of all DNA present in maternal plasma and it is masked by the background of maternal DNA, the scope of NIPD was, until recently, limited to the study of paternal DNA sequences (i.e., detection of SRY sequences, RhD gene in RhD-negative women and paternally inherited single-gene disorders, such as cystic fibrosis and Huntington's disease). However, new discoveries and technology are making NIPD a real option for patients and providing for an array of clinical applications, such as molecular studies in high-risk families, general screening and pregnancy management.

  11. Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21.

    PubMed

    Shen, Ori; Lieberman, Sari; Farber, Benjamin; Terner, Daniel; Lahad, Amnon; Levy-Lahad, Ephrat

    2014-04-23

    The aim of this study was to examine if isolated fetal ventricular septal defect (VSD) is associated with trisomy 21. One hundred twenty six cases with prenatal VSD diagnosed by a pediatric cardiologist were reviewed. Cases with known risk factors for congenital heart disease, the presence of other major anomalies, soft signs for trisomy 21 or a positive screen test for trisomy 21 were excluded. Ninety two cases formed the study group. None of the cases in the study group had trisomy 21. The upper limit of prevalence for trisomy 21 in isolated VSD is 3%. When prenatal VSD is not associated with other major anomalies, soft markers for trisomy 21 or a positive nuchal translucency or biochemical screen, a decision whether to perform genetic amniocentesis should be individualized. The currently unknown association between isolated VSD and microdeletions and microduplications should be considered when discussing this option.

  12. Variation in germ line mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission

    PubMed Central

    Freyer, Christoph; Cree, Lynsey M.; Mourier, Arnaud; Stewart, James B.; Koolmeister, Camilla; Milenkovic, Dusanka; Wai, Timothy; Floros, Vasileios I.; Hagström, Erik; Chatzidaki, Emmanouella E.; Wiesner, Rudolph J.; Samuels, David C; Larsson, Nils-Göran; Chinnery, Patrick F.

    2012-01-01

    A genetic bottleneck explains the marked changes in mitochondrial DNA (mtDNA) heteroplasmy observed during the transmission of pathogenic mutations, but the precise timing remains controversial, and it is not clear whether selection plays a role. These issues are critically important for the genetic counseling of prospective mothers, and developing treatments aimed at disease prevention. By studying mice transmitting a heteroplasmic single base-pair deletion in the mitochondrial tRNAMet gene, we show that mammalian mtDNA heteroplasmy levels are principally determined prenatally within the developing female germ line. Although we saw no evidence of mtDNA selection prenatally, skewed heteroplasmy levels were observed in the offspring of the next generation, consistent with purifying selection. High percentage levels of the tRNAMet mutation were linked to a compensatory increase in overall mitochondrial RNAs, ameliorating the biochemical phenotype, and explaining why fecundity is not compromised. PMID:23042113

  13. Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.

    PubMed

    van den Veyver, Ignatia B; Eng, Christine M

    2015-08-07

    New sequencing methods capable of rapidly analyzing the genome at increasing resolution have transformed diagnosis of single-gene or oligogenic genetic disorders in pediatric and adult medicine. Targeted tests, consisting of disease-focused multigene panels and diagnostic exome sequencing to interrogate the sequence of the coding regions of nearly all genes, are now clinically offered when there is suspicion for an undiagnosed genetic disorder or cancer in children and adults. Implementation of diagnostic exome and genome sequencing tests on invasively and noninvasively obtained fetal DNA samples for prenatal genetic diagnosis is also being explored. We predict that they will become more widely integrated into prenatal care in the near future. Providers must prepare for the practical, ethical, and societal dilemmas that accompany the capacity to generate and analyze large amounts of genetic information about the fetus during pregnancy.

  14. Prenatal stress alters amygdala functional connectivity in preterm neonates.

    PubMed

    Scheinost, Dustin; Kwon, Soo Hyun; Lacadie, Cheryl; Sze, Gordon; Sinha, Rajita; Constable, R Todd; Ment, Laura R

    2016-01-01

    Exposure to prenatal and early-life stress results in alterations in neural connectivity and an increased risk for neuropsychiatric disorders. In particular, alterations in amygdala connectivity have emerged as a common effect across several recent studies. However, the impact of prenatal stress exposure on the functional organization of the amygdala has yet to be explored in the prematurely-born, a population at high risk for neuropsychiatric disorders. We test the hypothesis that preterm birth and prenatal exposure to maternal stress alter functional connectivity of the amygdala using two independent cohorts. The first cohort is used to establish the effects of preterm birth and consists of 12 very preterm neonates and 25 term controls, all without prenatal stress exposure. The second is analyzed to establish the effects of prenatal stress exposure and consists of 16 extremely preterm neonates with prenatal stress exposure and 10 extremely preterm neonates with no known prenatal stress exposure. Standard resting-state functional magnetic resonance imaging and seed connectivity methods are used. When compared to term controls, very preterm neonates show significantly reduced connectivity between the amygdala and the thalamus, the hypothalamus, the brainstem, and the insula (p < 0.05). Similarly, when compared to extremely preterm neonates without exposure to prenatal stress, extremely preterm neonates with exposure to prenatal stress show significantly less connectivity between the left amygdala and the thalamus, the hypothalamus, and the peristriate cortex (p < 0.05). Exploratory analysis of the combined cohorts suggests additive effects of prenatal stress on alterations in amygdala connectivity associated with preterm birth. Functional connectivity from the amygdala to other subcortical regions is decreased in preterm neonates compared to term controls. In addition, these data, for the first time, suggest that prenatal stress exposure amplifies these

  15. Maternal obesity and prenatal programming.

    PubMed

    Elshenawy, Summer; Simmons, Rebecca

    2016-11-05

    Obesity is a significant and increasing public health concern in the United States and worldwide. Clinical and epidemiological evidence clearly shows that genetic and environmental factors contribute to the increased susceptibility of humans to obesity and its associated comorbidities; the interplay of these factors is explained by the concept of epigenetics. The impact of maternal obesity goes beyond the newborn period; fetal programming during the critical window of pregnancy, can have long term detrimental effects on the offspring as well as future generations. Emerging evidence is uncovering a link between the clinical and molecular findings in the offspring with epigenetic changes in the setting of maternal obesity. Research targeted towards reducing the transgenerational propagation and developmental programming of obesity is vital in reducing the increasing rates of disease.

  16. Prenatal transmission of scrapie in sheep and goats: A case study for veterinary public health

    PubMed Central

    Adams, D.B.

    2016-01-01

    Unsettled knowledge as to whether scrapie transmits prenatally in sheep and goats and transmits by semen and preimplantation embryos has a potential to compromise measures for controlling, preventing and eliminating the disease. The remedy may be analysis according to a systematic review, allowing comprehensive and accessible treatment of evidence and reasoning, clarifying the issue and specifying the uncertainties. Systematic reviews have clearly formulated questions, can identify relevant studies and appraise their quality and can summarise evidence and reasoning with an explicit methodology. The present venture lays a foundation for a possible systematic review and applies three lines of evidence and reasoning to two questions. The first question is whether scrapie transmits prenatally in sheep and goats. It leads to the second question, which concerns the sanitary safety of artificial breeding technologies, and is whether scrapie transmits in sheep and goats by means of semen and washed or unwashed in vivo derived embryos. The three lines of evidence derive from epidemiological, field and clinical studies, experimentation, and causal reasoning, where inferences are made from the body of scientific knowledge and an understanding of animal structure and function. Evidence from epidemiological studies allow a conclusion that scrapie transmits prenatally and that semen and embryos are presumptive hazards for the transmission of scrapie. Evidence from experimentation confirms that semen and washed or unwashed in vivo derived embryos are hazards for the transmission of scrapie. Evidence from causal reasoning, including experience from other prion diseases, shows that mechanisms exist for prenatal transmission and transmission by semen and embryos in both sheep and goats. PMID:27928518

  17. Ascorbic Acid Protects against Hypertension through Downregulation of ACE1 Gene Expression Mediated by Histone Deacetylation in Prenatal Inflammation-Induced Offspring

    PubMed Central

    Wang, Jing; Yin, Na; Deng, Youcai; Wei, Yanling; Huang, Yinhu; Pu, Xiaoyun; Li, Li; Zheng, Yingru; Guo, Jianxin; Yu, Jianhua; Li, Xiaohui; Yi, Ping

    2016-01-01

    Hypertension is a major risk factor for cardiovascular and cerebrovascular disease. Prenatal exposure to lipopolysaccharide (LPS) leads to hypertension in a rat offspring. However, the mechanism is still unclear. This study unraveled epigenetic mechanism for this and explored the protective effects of ascorbic acid against hypertension on prenatal inflammation-induced offspring. Prenatal LPS exposure resulted in an increase of intrarenal oxidative stress and enhanced angiotensin-converting enzyme 1 (ACE1) gene expression at the mRNA and protein levels in 6- and 12-week-old offspring, correlating with the augmentation of histone H3 acetylation (H3AC) on the ACE1 promoter. However, the prenatal ascorbic acid treatment decreased the LPS-induced expression of ACE1, protected against intrarenal oxidative stress, and reversed the altered histone modification on the ACE1 promoter, showing the protective effect in offspring of prenatal LPS stimulation. Our study demonstrates that ascorbic acid is able to prevent hypertension in offspring from prenatal inflammation exposure. Thus, ascorbic acid can be a new approach towards the prevention of fetal programming hypertension. PMID:27995995

  18. Prenatal Smoking Exposure, Low Birth Weight, and Disruptive Behavior Disorders

    ERIC Educational Resources Information Center

    Nigg, Joel T.; Breslau, Naomi

    2007-01-01

    Background: Prenatal problems are among theorized etiologies for child disruptive behavior problems. A key question concerns whether etiological contributors are shared across the broad range of disruptive psychopathology or are partially or largely distinct. Method: We examined prenatal smoking exposure and low birth weight as risk factors for…

  19. Memory and Brain Volume in Adults Prenatally Exposed to Alcohol

    ERIC Educational Resources Information Center

    Coles, Claire D.; Goldstein, Felicia C.; Lynch, Mary Ellen; Chen, Xiangchuan; Kable, Julie A.; Johnson, Katrina C.; Hu, Xiaoping

    2011-01-01

    The impact of prenatal alcohol exposure on memory and brain development was investigated in 92 African-American, young adults who were first identified in the prenatal period. Three groups (Control, n = 26; Alcohol-related Neurodevelopmental Disorder, n = 36; and Dysmorphic, n = 30) were imaged using structural MRI with brain volume calculated for…

  20. Prenatal Exposure to Maternal Depression and Cortisol Influences Infant Temperament

    ERIC Educational Resources Information Center

    Davis, Elysia Poggi; Glynn, Laura M.; Schetter, Christine Dunkel; Hobel, Calvin; Chicz-Demet, Aleksandra; Sandman, Curt A.

    2007-01-01

    Background: Accumulating evidence indicates that prenatal maternal and fetal processes can have a lasting influence on infant and child development. Results from animal models indicate that prenatal exposure to maternal stress and stress hormones has lasting consequences for development of the offspring. Few prospective studies of human pregnancy…

  1. Effects of Prenatal Care on Child Health at Age 5

    PubMed Central

    Noonan, Kelly; Corman, Hope; Schwartz-Soicher, Ofira; Reichman, Nancy E.

    2012-01-01

    Objectives The broad goal of contemporary prenatal care is to promote the health of the mother, child, and family through the pregnancy, delivery, and the child’s development. Although the vast majority of mothers giving birth in developed countries receive prenatal care, past research has not found compelling evidence that early or adequate prenatal care has favorable effects on birth outcomes. It is possible that prenatal care confers health benefits to the child that do not become apparent until after the perinatal period. Methods Using data from a national urban birth cohort study in the U.S., we estimate the effects of prenatal care on four markers of child health at age 5—maternal-reported health status, asthma diagnosis, overweight, and height. We implement a number of different strategies to address the issue of potential omitted variables bias as well as a large number of specification checks to validate the findings. Results and Conclusions Prenatal care, defined a number of different ways, does not appear to have any effect on the outcomes examined. The findings are robust and suggest that routine health care encounters during the prenatal period could potentially be used more effectively to enhance children’s health trajectories. However, future research is needed to explore the effects of prenatal care on additional child health and developmental outcomes as well as the effects of preconceptional and maternal lifetime helathcare on child health. PMID:22374319

  2. Does Rural Residence Affect Access to Prenatal Care in Oregon?

    ERIC Educational Resources Information Center

    Epstein, Beth; Grant, Therese; Schiff, Melissa; Kasehagen, Laurin

    2009-01-01

    Context: Identifying how maternal residential location affects late initiation of prenatal care is important for policy planning and allocation of resources for intervention. Purpose: To determine how rural residence and other social and demographic characteristics affect late initiation of prenatal care, and how residence status is associated…

  3. An Evaluation of an Adolescent Prenatal Education Program.

    ERIC Educational Resources Information Center

    Covington, Deborah L.; Peoples-Sheps, Mary D.; Buescher, Paul A.; Bennett, Trude A.; Paul, Melanie V.

    1998-01-01

    Evaluated the effectiveness of a prenatal-education program in increasing prenatal care utilization, improving maternal weight gain, and reducing low-birthweight births among adolescents. Data from weekly program reports and state vital statistics and health services information indicated that program participants were less likely to have…

  4. Prenatal Care: A Content-Based ESL Curriculum.

    ERIC Educational Resources Information Center

    Hassel, Elissa Anne

    A content-based curriculum in English as a Second Language (ESL) focusing on prenatal self-care is presented. The course was designed as a solution to the problem of inadequate prenatal care for limited-English-proficient Mexican immigrant women. The first three sections offer background information on and discussion of (1) content-based ESL…

  5. Effects of prenatal care on child health at age 5.

    PubMed

    Noonan, Kelly; Corman, Hope; Schwartz-Soicher, Ofira; Reichman, Nancy E

    2013-02-01

    The broad goal of contemporary prenatal care is to promote the health of the mother, child, and family through the pregnancy, delivery, and the child's development. Although the vast majority of mothers giving birth in developed countries receive prenatal care, past research has not found compelling evidence that early or adequate prenatal care has favorable effects on birth outcomes. It is possible that prenatal care confers health benefits to the child that do not become apparent until after the perinatal period. Using data from a national urban birth cohort study in the US, we estimate the effects of prenatal care on four markers of child health at age 5-maternal-reported health status, asthma diagnosis, overweight, and height. Prenatal care, defined a number of different ways, does not appear to have any effect on the outcomes examined. The findings are robust and suggest that routine health care encounters during the prenatal period could potentially be used more effectively to enhance children's health trajectories. However, future research is needed to explore the effects of prenatal care on additional child health and developmental outcomes as well as the effects of preconceptional and maternal lifetime healthcare on child health.

  6. Nonuse of Prenatal Care: Implications for Social Work Involvement.

    ERIC Educational Resources Information Center

    Bedics, Bonnie C.

    1994-01-01

    Interviewed 44 women who did not obtain prenatal care. Identified four categories of reasons for nonuse: women's lifestyles differed from mainstream; stressful events took priority over prenatal care; women attempted to receive care but were discouraged, turned away, or given poor information by service delivery system personnel; and women did not…

  7. Human Prenatal Effects: Methodological Problems and Some Suggested Solutions

    ERIC Educational Resources Information Center

    Copans, Stuart A.

    1974-01-01

    Briefly reviews the relevant literature on human prenatal effects, describes some of the possible designs for such studies; and discusses some of the methodological problem areas: sample choice, measurement of prenatal variables, monitoring of labor and delivery, and neonatal assessment. (CS)

  8. Gene scene: Earlier, eventually more specific, prenatal genetic diagnosis in realm of possibility

    SciTech Connect

    Randall, T.

    1990-12-26

    A new genetic technique that can amplify the DNA of a single cell has flung open the window of opportunity for prenatal genetic diagnosis to just 3 days after conception, and even to the unfertilized egg. In vitro fertilization (IVF) specialists at the Institute of Obstetrics and Gynecology at London's Postgraduate medical School, Hammersmith Hospital have determined the sex of human embryos at the eight-cell stage of development from five couples at risk for X chromosome-linked diseases. The female embryos, which do not risk inheriting the disease, were then successfully implanted in the uterus and carried to full term.

  9. Prenatal stress enhances severity of atherosclerosis in the adult apolipoprotein E-deficient mouse offspring via inflammatory pathways.

    PubMed

    Ho, H; Lhotak, S; Solano, M E; Karimi, K; Pincus, M K; Austin, R C; Arck, P

    2013-02-01

    Atherosclerosis is the underlying cause of cardiovascular disease and stroke. Endothelial cell dysfunctions are early events in atherosclerosis, resulting in the recruitment of circulating monocytes. The immune system can elicit an inflammatory response toward the atherosclerotic lesion, thereby accelerating lesion growth. Risk factors for atherosclerosis include hypertension, smoking, stress perception or low birth weight. As prenatal stress challenge decreases the birth weight and affects the offspring's postnatal immune response, we aimed to investigate whether prenatal stress contributes to the development of atherosclerosis in mice. Syngenic pregnant apolipoprotein E-deficient (apoE-/-) dams were exposed to sound stress on gestation days 12.5 and 14.5. The presence and size of atherosclerotic plaques in the offspring at the age of 15 weeks was evaluated by histomorphology, accompanied by flow cytometric analysis of the frequency and phenotype of monocytes/macrophages and regulatory T (Treg) cells in the blood. Further, cytokine secretion of peripheral blood lymphocytes was analyzed. In response to prenatal stress challenge, an increased frequency of large atherosclerotic plaques was detectable in apoE-/- offspring, which was particularly profound in females. Prenatal stress also resulted in alterations of the offspring's immune response, such as a decreased frequency of Treg cells in blood, alterations of macrophage populations in blood and an increased secretion of inflammatory cytokines. We provide novel evidence that prenatally stressed adult offspring show an increased severity of atherosclerosis. As Treg cells are key players in dampening inflammation, the observed increase in atherosclerosis may be due to the lack of Treg cell frequency. Future interdisciplinary research is urgently required to understand the developmental origin of prenatal stress-induced atherosclerosis. The availability of our model may facilitate and foster such research endeavors.

  10. Sonographic appearance of a cesarean scar pregnancy with placenta percreta invading the bladder in the first trimester and management with fertility preservation.

    PubMed

    Rebarber, Andrei; Varrey, Aneesha; Scherr, Doug; Fox, Nathan; Sassoon, Robert; Ciorica, Doina; Saltzman, Daniel

    2017-03-04

    A 36-year-old, gravida 8, para 6, woman with six prior cesarean sections presented at 6 weeks with a cesarean scar pregnancy. Medical management was performed initially; however, subsequent three-dimensional sonographic examinations revealed trophoblastic invasion into the bladder. This led to robotic-assisted partial cystectomy, fulguration of invaded pregnancy, and repair of the uterine defect. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:163-167, 2017.

  11. Culturally sensitive prenatal care for Southeast Asians.

    PubMed

    Mattson, S; Lew, L

    1992-01-01

    The outreach program for Southeast Asian immigrants, chiefly Cambodians who arrived after 1980, begun by St. Mary Medical CEnter of Long Beach California, called the Southeast Asian Health Project (SEAHP) was evaluated by structured interviews of 199 women. The obstacles to full participation by these Asian immigrants in health care are described at length. They range from illiteracy and abuse in refugee camps to the immense cultural barrier involving philosophy of health to language barriers. The SEAHP Outreach services began with door-to-door canvassing, ads in refugee papers, and meetings in temples. Special educational resource materials were printed covering prenatal care, nutrition, child development, and feeding. Oral classes were held in CAmbodian and Lao with Vietnamese translators, as well as babysitters, transportation, and snacks. Class topics were nutrition, parenting skills, labor and delivery, child development, hygiene, and breast feeding. Training was also given to professional staff. 600 clients in prenatal clinics since 1987, 119 were interviewed by 4 workers fluent in Cambodian and Lao. The women were typical of refugees, only 1/2 were literate in native languages. 49% had delivered babies at home in Asia; 39% had delivered in refugee camp clinics. Women cited several different behaviors as a result of SEAHP classes: intake of milk products, use of food substitutes, food preparation, attendance at regular medical care, child care, and bathing. They said that they felt more comfortable at the clinic, and would recommend that friends go to the clinic for prenatal care. The concept of culture broker, and the role of nurses as culture brokers are discussed.

  12. Brain fibronectin expression in prenatally irradiated mice

    SciTech Connect

    Meznarich, H.K.; McCoy, L.S.; Bale, T.L.; Stiegler, G.L.; Sikov, M.R. )

    1993-01-01

    Activation of gene transcription by radiation has been recently demonstrated in vivo. However, little is known on the specificity of these alterations on gene transcription. Prenatal irradiation is a known teratogen that affects the developing mammalian central nervous system (CNS). Altered neuronal migration has been suggested as a mechanism for abnormal development of prenatally irradiated brains. Fibronectin (FN), an extracellular glycoprotein, is essential for neural crest cell migration and neural cell growth. In addition, elevated levels of FN have been found in the extracellular matrix of irradiated lung. To test whether brain FN is affected by radiation, either FN level in insoluble matrix fraction or expression of FN mRNA was examined pre- and postnatally after irradiation. Mice (CD1), at 13 d of gestation (DG), served either as controls or were irradiated with 14 DG, 17 DG, or 5,6, or 14 d postnatal. Brain and liver were collected from offspring and analyzed for either total FN protein levels or relative mRNAs for FN and tubulin. Results of prenatal irradiation on reduction of postnatal brain weight relative to whole are comparable to that reported by others. Insoluble matrix fraction (IMF) per gram of brain, liver, lung, and heart weight was not significantly different either between control and irradiated groups or between postnatal stages, suggesting that radiation did not affect the IMF. However, total amounts of FN in brain IMF at 17 DG were significantly different (p < .02) between normal (1.66 [+-] 0.80 [mu]g) and irradiated brains (0.58 [+-] 0.22 [mu]g). FN mRNA was detectable at 13, 14, and 17 DG, but was not detectable at 6 and 14 d postnatal, indicating that FN mRNA is developmentally regulated. 41 refs., 4 figs., 3 tabs.

  13. Empowering Women's Prenatal Communication: Does Literacy Matter?

    PubMed

    Roter, Debra L; Erby, Lori H; Rimal, Rajiv N; Smith, Katherine C; Larson, Susan; Bennett, Ian M; Cole, Katie Washington; Guan, Yue; Molloy, Matthew; Bienstock, Jessica

    2015-01-01

    This study was designed to evaluate the impact of an interactive computer program developed to empower prenatal communication among women with restricted literacy skills. A total of 83 women seeing 17 clinicians were randomized to a computer-based communication activation intervention (Healthy Babies Healthy Moms [HBHM]) or prenatal education (Baby Basics [BB]) prior to their prenatal visit. Visit communication was coded with the Roter Interaction Analysis System, and postvisit satisfaction was reported. Participants were on average 24 years of age and 25 weeks pregnant; 80% were African American. Two thirds scored ≤8th grade on a literacy screener. Women with literacy deficits were more verbally active, disclosed more medical and psychosocial/lifestyle information, and were rated as more dominant by coders in the HBHM group relative to their counterparts in the BB group (all ps < .05). Clinicians were less verbally dominant and more patient centered with literate HBHM relative to BB group women (p < .05); there was a similar, nonsignificant trend (p < .1) for lower literate women. Clinicians communicated less medical information and made fewer reassurance statements to lower literate women in the HBHM relative to the BB group (p < .05). There was a trend toward lower visit satisfaction for women with restricted literacy in the HBHM relative to the BB group (p < .1); no difference in satisfaction was evident for more literate women. The HBHM intervention empowered communication of all women and facilitated verbal engagement and relevant disclosure of medical and psychosocial information of women with literacy deficits. Satisfaction, however, tended to be lower for these women.

  14. Psychosexual development: an examination of the role of prenatal hormones.

    PubMed

    Ehrhardt, A A; Meyer-Bahlburg, H F

    Naturally occurring endocrine syndromes and the offspring from steroid-treated pregnancies are the major sources of evidence for a role of prenatal hormones in psychosexual development in man. Effects of prenatal androgens have been established for the sex-dimorphic behaviour clusters of energy expenditure (increased), parenting rehearsal (decreased), peer associations (shifted to male), and grooming-related behaviour (decreased); most of the information was obtained on the syndrome of congenital adrenal hyperplasia and in progestin-induced female hermaphroditism. Studies of children and adults exposed prenatally to exogenous oestrogens and/or progestagens suggest slight demasculinizing effects but cannot yet be considered conclusive. Gender identity is largely dependent on the sex of rearing; a direct role of prenatal hormones in its formation has not been shown. The evidence for the role of prenatal hormones in the development of sexual orientation is inconclusive.

  15. The Motivation-Facilitation Theory of Prenatal Care Access.

    PubMed

    Phillippi, Julia C; Roman, Marian W

    2013-01-01

    Despite the availability of services, accessing health care remains a problem in the United States and other developed countries. Prenatal care has the potential to improve perinatal outcomes and decrease health disparities, yet many women struggle with access to care. Current theories addressing access to prenatal care focus on barriers, although such knowledge is minimally useful for clinicians. We propose a middle-range theory, the motivation-facilitation theory of prenatal care access, which condenses the prenatal care access process into 2 interacting components: motivation and facilitation. Maternal motivation is the mother's desire to begin and maintain care. Facilitation represents the goal of the clinic to create easy, open access to person-centered beneficial care. This simple model directs the focus of research and change to the interface of the woman and the clinic and encourages practice-level interventions that facilitate women entering and maintaining prenatal care.

  16. Screening and brief intervention in prenatal care settings.

    PubMed

    Chang, Grace

    Pregnant women continue to drink despite evidence that prenatal alcohol consumption can negatively affect fetal growth and development. Because no universally safe level of prenatal alcohol use has been established, it is beneficial to identify and modify a woman's prenatal alcohol use early in her pregnancy, particularly as her past drinking habits can predict her drinking levels during pregnancy. Some women may voluntarily disclose the extent of their prenatal alcohol consumption. If not, the T-ACE, a four-item screening questionnaire based on the CAGE assessment tool, has been demonstrated to be a valuable and efficient method for identifying a range of alcohol use. Studies have shown that combined with brief interventions, early identification of a woman's prenatal alcohol use could avert its more severe adverse consequences and may be the logical first-line approach.

  17. Clinicopathologic, mammographic, and sonographic features in 1187 patients with pure ductal carcinoma in situ of the breast by estrogen receptor status

    PubMed Central

    Rauch, Gaiane M.; Kuerer, Henry M.; Scoggins, Marion E.; Fox, Patricia S.; Benveniste, Ana P.; Park, Young Mi; Lari, Sara A.; Hobbs, Brian P.; Adrada, Beatriz E.; Krishnamurthy, Savitri; Yang, Wei T.

    2014-01-01

    Background The clinicopathologic, mammographic, and sonographic findings in patients with pure ductal carcinoma in situ (DCIS) were assessed by estrogen receptor (ER) expression. Methods After institutional review board approval, patients with pure DCIS evaluated from January 1996 to July 2009 with known ER status and available imaging were identified. Images were reviewed per the ACR BI-RADS® lexicon (4th edition). Clinical, pathologic, and imaging characteristics were analyzed by ER status using t-test, chi-square test, and Fisher’s exact test. Results Of 1219 patients with pure DCIS and known ER status identified, 1187 with complete data were included. Mammography was performed in all 1187 patients and sonography in 519 (44%). There were 972 (82%) patients with ER-positive and 215 (18%) with ER-negative disease. ER-negative DCIS was more likely to be high grade (93% vs 44%, p<0.0001), associated with comedonecrosis (64% vs 29%, p<0.0001), and multifocal (23% vs 15%, p=0.009). On sonography, ER-negative DCIS was more likely to be visible (61% vs 46%, p=0.004), larger (mean size, 2.3 vs 1.6 cm, p=0.006), and show posterior shadowing (53% vs 28%, p=0.006). Mastectomy was more frequently performed for ER-negative DCIS (47% vs 37%, p=0.008). Palpable DCIS was visible on sonography in 55% of cases and mammography in 81%. Compared with ER-positive palpable DCIS, ER-negative palpable DCIS was larger and more likely to be visible on sonography. Compared with ER-positive noncalcified DCIS, ER-negative noncalcified DCIS was less likely to be visible on mammography. Conclusion ER-positive and ER-negative pure DCIS have different clinicopathologic and imaging characteristics. ER-negative DCIS is associated with worse prognostic factors then ER-positive DCIS. On sonography, ER-negative DCIS is more frequently visible than ER-positive DCIS, tends to be larger, and more frequently demonstrates posterior shadowing. PMID:23774990

  18. Does prenatal stress alter the developing connectome?

    PubMed Central

    Scheinost, Dustin; Sinha, Rajita; Cross, Sarah N.; Kwon, Soo Hyun; Sze, Gordon; Constable, R. Todd; Ment, Laura R.

    2017-01-01

    Human neurodevelopment requires the organization of neural elements into complex structural and functional networks called the connectome. Emerging data suggest that prenatal exposure to maternal stress plays a role in the wiring, or miswiring, of the developing connectome. Stress-related symptoms are common in women during pregnancy and are risk factors for neurobehavioral disorders ranging from autism spectrum disorder, attention deficit hyperactivity disorder, and addiction, to major depression and schizophrenia. This review focuses on structural and functional connectivity imaging to assess the impact of changes in women's stress-based physiology on the dynamic development of the human connectome in the fetal brain. PMID:27673421

  19. Does prenatal stress alter the developing connectome?

    PubMed

    Scheinost, Dustin; Sinha, Rajita; Cross, Sarah N; Kwon, Soo Hyun; Sze, Gordon; Constable, R Todd; Ment, Laura R

    2017-01-01

    Human neurodevelopment requires the organization of neural elements into complex structural and functional networks called the connectome. Emerging data suggest that prenatal exposure to maternal stress plays a role in the wiring, or miswiring, of the developing connectome. Stress-related symptoms are common in women during pregnancy and are risk factors for neurobehavioral disorders ranging from autism spectrum disorder, attention deficit hyperactivity disorder, and addiction, to major depression and schizophrenia. This review focuses on structural and functional connectivity imaging to assess the impact of changes in women's stress-based physiology on the dynamic development of the human connectome in the fetal brain.

  20. Sensory Processing Disorder in a Primate Model: Evidence from a Longitudinal Study of Prenatal Alcohol and Prenatal Stress Effects

    ERIC Educational Resources Information Center

    Schneider, Mary L.; Moore, Colleen F.; Gajewski, Lisa L.; Larson, Julie A.; Roberts, Andrew D.; Converse, Alexander K.; DeJesus, Onofre T.

    2008-01-01

    Disrupted sensory processing, characterized by over- or underresponsiveness to environmental stimuli, has been reported in children with a variety of developmental disabilities. This study examined the effects of prenatal stress and moderate-level prenatal alcohol exposure on tactile sensitivity and its relationship to striatal dopamine system…

  1. Relationship between colour flow Doppler sonographic assessment of corpus luteum activity and progesterone concentrations in mares after embryo transfer.

    PubMed

    Brogan, P T; Henning, H; Stout, T A E; de Ruijter-Villani, M

    2016-03-01

    Colour-flow Doppler sonography has been described as a means of assessing corpus luteum (CL) function rapidly, because area of luteal blood vessels correlates well with circulating progesterone (P4) concentrations [P4] in oestrous cycling mares. The aim of this study was to assess the relationships between CL size and vascularity, and circulating [P4] during early pregnancy in mares, and to determine whether luteal blood flow was a useful aid for selecting an embryo transfer recipient. Equine embryos (n=48) were recovered 8 days after ovulation and were transferred to available recipient mares as part of a commercial program with the degree of synchrony in timing of recipient ovulation ranging from 1 day before to 4 days after the donor. Immediately prior to embryo transfer (ET), maximum CL cross-section and blood vessel areas were assessed sonographically, and jugular blood was collected to measure plasma [P4]. Sonographic measurements and jugular blood collection were repeated at day 4 after ET for all mares, and again at days 11, 18 and 25 after ET in mares that were pregnant. The number of grey-scale and colour pixels within the CL was subsequently quantified using ImageJ software. The CL blood flow correlated significantly but weakly with plasma [P4] on the day of transfer and on day 4 after ET in all mares, and on days 11 and 25 after ET in pregnant mares (r=0.30-0.36). The CL area and plasma [P4] were also correlated on each day until day 11 after ET (r=0.49-0.60). The CL colour pixel area decreased significantly after day 18, whereas CL area was already decreasing by day 4 after ET. The CL area, area of blood flow, or [P4] was predictive of pregnancy. Findings in the present study suggest that both CL area and blood flow are correlated with circulating [P4] at the time of transfer and in early pregnancy. Evaluation of the CL using B-mode or CF sonography, although practical, provides no improvement in the selection of recipients or prediction of pregnancy

  2. Prenatal Diagnosis and Outcome of Fetuses with Double-Inlet Left Ventricle

    PubMed Central

    Gidvani, Monisha; Ramin, Kirk; Gessford, Ellen; Aguilera, Marijo; Giacobbe, Lauren; Sivanandam, Shanthi

    2011-01-01

    The aim of this study is to characterize the in utero presentation of the subtype of double-inlet left ventricle (DILV), a rare congenital heart disease, and assess the postnatal outcome. We retrospectively studied fetuses diagnosed prenatally with DILV between 2007 and 2011. We reviewed the prenatal and postnatal echocardiograms, clinical presentations, karyotypes, and the postnatal outcomes. There were eight fetuses diagnosed with DILV with L-transposition of the great vessels (S, L, L). Mean gestational age at diagnosis was 24.7 weeks. Of these, four fetuses (50%) had pulmonary atresia. One fetus (12.5%) also had tricuspid atresia and coarctation of the aorta and died at 17 months of age. Complete heart block and long QT syndrome was present in one fetus (12.5%), who died shortly after birth. There were no extracardiac or karyotypic abnormalities. Six (75%) infants are alive and doing well. Double-inlet left ventricle with varied presentation can be accurately diagnosed prenatally. The outcome of fetuses is good in the absence of associated rhythm abnormalities with surgically staged procedures leading to a Fontan circulation. PMID:23705101

  3. Prenatal diagnoses of an uncommon isolated obstructed supracardiac total anomalous pulmonary venous connection

    PubMed Central

    Muntean, Iolanda; Mărginean, Claudiu; Stanca, Răzvan; Togănel, Rodica; Pop, Marian; Gozar, Liliana

    2017-01-01

    Abstract Introduction: Total anomalous pulmonary venous connection is an uncommon congenital heart disease. Four types are described based on the site of pulmonary venous drainage: supracardiac, cardiac, infradiaphragmathic, and mixed connection. In most cases of supracardiac type, the common venous confluence drains through an ascending left vertical vein into the brachiocephalic vein, right superior vena cava, and then into the right atrium. Anomalous connection of the pulmonary venous confluence directly to the right SVC, especially the obstructed form is an unusual and severe supracardiac variant. The prenatal diagnosis is challenging. Patient concerns: We present a case report of a fetus diagnosed with TAPVC at 23 gestational weeks. Diagnosis interventions: The 4-chamber view showed a small left atrium, with a “smooth” posterior wall and the absence of pulmonary vein connection. This is the first case of prenatally diagnosed isolated, obstructed supracardiac type with drainage directly into the right superior vena cava. Conclusion: The obstetrician and fetal cardiologist should be cautious at the direct and indirect echocardiographic signs of this condition. A prenatal diagnose of isolated, obstructed form is important for adequate planning of delivery and postnatal surgery in a tertiary center. PMID:28151919

  4. Prenatal maternal stress and wheeze in children: novel insights into epigenetic regulation

    PubMed Central

    Trump, Saskia; Bieg, Matthias; Gu, Zuguang; Thürmann, Loreen; Bauer, Tobias; Bauer, Mario; Ishaque, Naveed; Röder, Stefan; Gu, Lei; Herberth, Gunda; Lawerenz, Christian; Borte, Michael; Schlesner, Matthias; Plass, Christoph; Diessl, Nicolle; Eszlinger, Markus; Mücke, Oliver; Elvers, Horst-Dietrich; Wissenbach, Dirk K.; von Bergen, Martin; Herrmann, Carl; Weichenhan, Dieter; Wright, Rosalind J.; Lehmann, Irina; Eils, Roland

    2016-01-01

    Psychological stress during pregnancy increases the risk of childhood wheeze and asthma. However, the transmitting mechanisms remain largely unknown. Since epigenetic alterations have emerged as a link between perturbations in the prenatal environment and an increased disease risk we used whole genome bisulfite sequencing (WGBS) to analyze changes in DNA methylation in mothers and their children related to prenatal psychosocial stress and assessed its role in the development of wheeze in the child. We evaluated genomic regions altered in their methylation level due to maternal stress based of WGBS data of 10 mother-child-pairs. These data were complemented by longitudinal targeted methylation and transcriptional analyses in children from our prospective mother-child cohort LINA for whom maternal stress and wheezing information was available (n = 443). High maternal stress was associated with an increased risk for persistent wheezing in the child until the age of 5. Both mothers and children showed genome-wide alterations in DNA-methylation specifically in enhancer elements. Deregulated neuroendocrine and neurotransmitter receptor interactions were observed in stressed mothers and their children. In children but not in mothers, calcium- and Wnt-signaling required for lung maturation in the prenatal period were epigenetically deregulated and could be linked with wheezing later in children’s life. PMID:27349968

  5. Prenatal maternal stress and wheeze in children: novel insights into epigenetic regulation.

    PubMed

    Trump, Saskia; Bieg, Matthias; Gu, Zuguang; Thürmann, Loreen; Bauer, Tobias; Bauer, Mario; Ishaque, Naveed; Röder, Stefan; Gu, Lei; Herberth, Gunda; Lawerenz, Christian; Borte, Michael; Schlesner, Matthias; Plass, Christoph; Diessl, Nicolle; Eszlinger, Markus; Mücke, Oliver; Elvers, Horst-Dietrich; Wissenbach, Dirk K; von Bergen, Martin; Herrmann, Carl; Weichenhan, Dieter; Wright, Rosalind J; Lehmann, Irina; Eils, Roland

    2016-06-28

    Psychological stress during pregnancy increases the risk of childhood wheeze and asthma. However, the transmitting mechanisms remain largely unknown. Since epigenetic alterations have emerged as a link between perturbations in the prenatal environment and an increased disease risk we used whole genome bisulfite sequencing (WGBS) to analyze changes in DNA methylation in mothers and their children related to prenatal psychosocial stress and assessed its role in the development of wheeze in the child. We evaluated genomic regions altered in their methylation level due to maternal stress based of WGBS data of 10 mother-child-pairs. These data were complemented by longitudinal targeted methylation and transcriptional analyses in children from our prospective mother-child cohort LINA for whom maternal stress and wheezing information was available (n = 443). High maternal stress was associated with an increased risk for persistent wheezing in the child until the age of 5. Both mothers and children showed genome-wide alterations in DNA-methylation specifically in enhancer elements. Deregulated neuroendocrine and neurotransmitter receptor interactions were observed in stressed mothers and their children. In children but not in mothers, calcium- and Wnt-signaling required for lung maturation in the prenatal period were epigenetically deregulated and could be linked with wheezing later in children's life.

  6. Persistent DNA methylation changes associated with prenatal mercury exposure and cognitive performance during childhood.

    PubMed

    Cardenas, Andres; Rifas-Shiman, Sheryl L; Agha, Golareh; Hivert, Marie-France; Litonjua, Augusto A; DeMeo, Dawn L; Lin, Xihong; Amarasiriwardena, Chitra J; Oken, Emily; Gillman, Matthew W; Baccarelli, Andrea A

    2017-03-21

    Prenatal exposure to mercury, a known neurotoxic metal, is associated with lower cognitive performance during childhood. Disruption of fetal epigenetic programming could explain mercury's neurodevelopmental effects. We screened for epigenome-wide methylation differences associated with maternal prenatal blood mercury levels in 321 cord blood DNA samples and examined the persistence of these alterations during early (n = 75; 2.9-4.9 years) and mid-childhood (n = 291; 6.7-10.5 years). Among males, prenatal mercury levels were associated with lower regional cord blood DNA methylation at the Paraoxonase 1 gene (PON1) that persisted in early childhood and was attenuated in mid-childhood blood. Cord blood methylation at the PON1 locus predicted lower cognitive test scores measured during early childhood. Methylation at the PON1 locus was associated with PON1 expression in an independent set of cord blood samples. The observed persistent epigenetic disruption of the PON1 gene may modulate mercury toxicity in humans and might serve as a biomarker of exposure and disease susceptibility.

  7. Prenatal Cocaine Exposure Alters Cortisol Stress Reactivity in 11 Year Old Children

    PubMed Central

    Lester, Barry M.; LaGasse, Linda L.; Shankaran, Seetha; Bada, Henrietta S.; Bauer, Charles R.; Lin, Richard; Das, Abhik; Higgins, Rosemary

    2011-01-01

    Objective Determine the association between prenatal cocaine exposure and postnatal environmental adversity on salivary cortisol stress reactivity in school aged children. Study design Subjects included 743 11 year old children (n=320 cocaine exposed; 423 comparison) followed since birth in a longitudinal prospective multisite study. Saliva samples were collected to measure cortisol at baseline and after a standardized procedure to induce psychological stress. Children were divided into those who showed an increase in cortisol from baseline to post stress and those who showed a decrease or blunted cortisol response. Covariates measured included site, birthweight, maternal pre and postnatal use of alcohol, tobacco or marijuana, social class, changes in caretakers, maternal depression and psychological symptoms, domestic and community violence, child abuse and quality of the home. Results With adjustment for confounding variables, cortisol reactivity to stress was more likely to be blunted in children with prenatal cocaine exposure. Cocaine exposed children exposed to domestic violence showed the strongest effects. Conclusion The combination of prenatal cocaine exposure and an adverse postnatal environment could down regulate the hypothalamic-pituitary-adrenal axis (HPA) resulting in the blunted cortisol response to stress possibly increasing risk for later psychopathology and adult disease. PMID:20400094

  8. Multiple tendon xanthomas in patient with heterozygous familial hypercholesterolaemia: sonographic and MRI findings

    PubMed Central

    Dagistan, Emine; Canan, Arzu; Kizildag, Betul; Barut, Abdullah Yuksel

    2013-01-01

    Tendon xanthomas are a component of familial hypercholesterolaemia, which is a hereditary disease and characterised by elevated low-density lipo protein cholesterol plasma levels and premature coronary artery disease. Tendon xanthomas are diagnostic for heterozygous familial hypercholesterolaemia (HFH) and they mostly occur in Achilles tendon. Sonography and MRI are superior to clinical assessment and are useful in detecting tendon xanthomas. In this report, we present ultrasonographic and MRI findings of multiple tendon xanthomas in a case of HFH. PMID:24252837

  9. Prenatal stress changes learning strategies in adulthood.

    PubMed

    Schwabe, Lars; Bohbot, Veronique D; Wolf, Oliver T

    2012-11-01

    It is well known that stressful experiences may shape hippocampus-dependent learning and memory processes. However, although most studies focused on the impact of stress at the time of learning or memory testing, very little is known about how stress during critical periods of brain development affects learning and memory later in life. In this study, we asked whether prenatal stress exposure may influence the engagement of hippocampus-dependent spatial learning strategies and caudate nucleus-dependent response learning strategies in later life. To this end, we tested healthy participants whose mothers had experienced major negative life events during their pregnancy in a virtual navigation task that can be solved by spatial and response strategies. We found that young adults with prenatal stress used rigid response learning strategies more often than flexible spatial learning strategies compared with participants whose mothers did not experience major negative life events during pregnancy. Individual differences in acute or chronic stress do not account for these findings. Our data suggest that the engagement of hippocampal and nonhippocampal learning strategies may be influenced by stress very early in life.

  10. Noninvasive screening for prenatal genetic diagnosis.

    PubMed Central

    Simpson, J. L.

    1995-01-01

    During the last two decades a number of methods of prenatal diagnosis have become available and have been used either in laboratory research or in routine genetic counselling. Despite the effectiveness of invasive sampling procedures in diagnosing genetic disorders, their use involves some risk. The advantage of noninvasive methods is that they provide an opportunity to make a genetic diagnosis without risk, and therefore are applicable for use in mass screening programmes. This article reviews three different approaches to noninvasive prenatal genetic diagnosis and offers conclusions and recommendations for their use. Maternal serum screening is a well-understood technique that should be universally offered to pregnant women, regardless of their risk status. Invasive tests can be used, as indicated, once serum testing results have been obtained. Although ultrasonography cannot be recommended for routine use, it can provide a useful adjunct to serum screening and deserves further investigation. Elaboration of fetal cells from maternal blood is a promising technique but can only be considered investigational on the basis of current research, and should not serve as the sole basis of clinical decision-making. PMID:8907774

  11. Prenatal growth of the human tympanic membrane.

    PubMed

    Bruzewicz, Szymon; Suder, Elzbieta

    2004-06-01

    The questions connected with the morphology of developing tympanic membrane are rather inadequately dealt with in the relevant literature. The aim of this article has been the morphometric analysis of the prenatal growth of human tympanic membrane. The experiment was conducted on 33 fetuses aged from the 4th to 8th month of gestation. Significant individual variability of the tympanic membrane measurements was revealed in the material studied. The growth of the structure discussed was bilaterally symmetric during the whole period investigated. The fourth and 7th month of gestation seem to be the crucial stages for the tympanic membrane development. The measurements of the membrane exhibited the highest variability, simultaneously being negatively correlated with the fetal age in that periods. Relatively more intensive growth of the vertical diameter of the membrane was noted in the 5th and 8th months of gestation. In the 8th month of gestation the tympanic membrane reached a vertically elongated shape, typical of the postnatal period. On the basis of our results it is possible to conclude that the quantitative developmental process takes place in the tympanic membrane till the end of the prenatal period, determining the final functional capacity of the structure discussed.

  12. Environmental noise and human prenatal growth

    SciTech Connect

    Schell, L.M.

    1981-09-01

    To determine whether chronic exposure to relatively loud noise has demonstrable biological effects in humans, a study was conducted on the effect of mother's exposure to airport noise while pregnant, and of social and biological characteristics of the family upon birthweight and gestation length. The sample of births was drawn from a community located adjacent to an international airport in the U.S., where noise levels had been measured previously. Mother's noise exposure was based upon noise levels near her residence in the community while she was pregnant. Data from 115 births were used, these being from mothers whose noise exposure history was most complete throughout the pregnancy. Using multivariate analysis to correct for family characteristics, the partial correlation coefficient for noise exposure and gestation length was negative, large, and significant in girls (r . -0.49, p less than 0.001). In boys the partial correlation coefficient was also negative but was smaller and did not quite reach statistical significance. Partial correlations with birthweight were smaller in both boys and girls and not significant. These results agree best with previous studies that suggest that noise may reduce prenatal growth. The size of the observed effects may be related to a conservative research design biased towards underestimation, as well as to the real effects of noise upon human prenatal growth.

  13. Mechanobiological simulations of prenatal joint morphogenesis.

    PubMed

    Giorgi, Mario; Carriero, Alessandra; Shefelbine, Sandra J; Nowlan, Niamh C

    2014-03-21

    Joint morphogenesis is the process in which prenatal joints acquire their reciprocal and interlocking shapes. Despite the clinical importance of the process, it remains unclear how joints acquire their shapes. In this study, we simulate 3D mechanobiological joint morphogenesis for which the effects of a range of movements (or lack of movement) and different initial joint shapes are explored. We propose that static hydrostatic compression inhibits cartilage growth while dynamic hydrostatic compression promotes cartilage growth. Both pre-cavitational (no muscle contractions) and post-cavitational (with muscle contractions) phases of joint development were simulated. Our results showed that for hinge type motion (planar motion from 45° to 120°) the proximal joint surface developed a convex profile in the posterior region and the distal joint surface developed a slightly concave profile. When 3D movements from 40° to -40° in two planes were applied, simulating a rotational movement, the proximal joint surface developed a concave profile whereas the distal joint surface rudiment acquire a rounded convex profile, showing an interlocking shape typical of a ball and socket joint. The significance of this research is that it provides new and important insights into normal and abnormal joint development, and contributes to our understanding of the mechanical factors driving very early joint morphogenesis. An enhanced understanding of how prenatal joints form is critical for developing strategies for early diagnosis and preventative treatments for congenital musculoskeletal abnormalities such as developmental dysplasia of the hip.

  14. [Technical quality of prenatal visits in Senegal].

    PubMed

    Tal-Dia, A; Garnier, P; Toure, K; Mbow, E H; Wone, I

    1997-01-01

    The objective of this study is to estimate the quality of antenatal care in Senegal. A survey was conducted in 49 health centers near 70 health workers practising antenatal cares for pregnant women. The quality of cares was assessed on 13 essential actions, which were classified in 4 components. The global score of quality and the specific score of each component were calculated and analysed according to the qualification and the duration of time in the work of the health workers, the location and the equipment of the centers. Global quality of prenatal cares was linked with the qualification of agents. The component "screening for risk factors" had low and worse score and "reception of pregnant women" also. These 2 components were not linked with the qualification of agents, contrary to the 2 others, pregnancy and mother health surveillance. The duration of time in service and the equipment had no influence in global and specific scores. The health workers qualification was linked with many components of quality, but a good basic training is not sufficient to provide prenatal care of high quality. It must be define a framework with screening for unfavorable ends of pregnancy.

  15. [Potential role of prenatal care in reducing maternal and perinatal mortality in sub-Saharan Africa].

    PubMed

    Prual, A; De Bernis, L; El Joud, D Ould

    2002-02-01

    Prenatal care has been implemented in developing countries according to the same mode as applied in industrialized countries without considering its real effectiveness in reducing maternal and neonatal mortality. Several recent studies suggest that the goals should be revisited in order to implement a program of prenatal care based on real scientific evidence. Based on the current literature, we propose a potentially effective content for prenatal care adapted to the context of developing countries. Four antenatal consultations would be enough if appropriately timed at 12, 26, 32 and 36 weeks pregnancy. The purpose of these consultations would be: 1) to screen for three major risk factors, which, when recognized, lead to specific action: uterine, scare, malpresentation, premature rupture of the membranes; 2) to prevent and/or detect (and treat) specific complications of pregnancy: hypertension, infection (malaria, venereal disease, HIV, tetanus, urinary tract infection); anemia and trace element deficiencies, gestational diabetes mellitus; 3) to provide counseling, support and information for pregnant women and their families (including the partner) concerning: severe signs and symptoms of pregnancy and delivery, community organization of emergency transfer, delivery planning. These potentially effective actions can only have a real public health impact if implemented within an organized maternal health system with a functional network of delivery units, if truly quality care is given, and if the relationships between health care providers and the population are based on mutual respect. Sub-Saharan African women use prenatal care extensively when it is accessible; this opportunity must be used to implement evidence-based actions with appropriate and realistic goals.

  16. Maternal prenatal distress and poor nutrition – mutually influencing risk factors affecting infant neurocognitive development

    PubMed Central

    Monk, Catherine; Georgieff, Michael K.; Osterholm, Erin A.

    2012-01-01

    Background Accumulating data from animal and human studies indicate that the prenatal environment plays a significant role in shaping children’s neurocognitive development. Clinical, epidemiologic, and basic science research suggests that two experiences relatively common in pregnancy — an unhealthy maternal diet and psychosocial distress — significantly affect children’s future neurodevelopment. These prenatal experiences exert their influence in the context of one another and yet, almost uniformly, are studied independently. Scope and Method of Review In this review, we suggest that studying neurocognitive development in children in relation to both prenatal exposures is ecologically most relevant, and methodologically most sound. To support this approach, we selectively review two research topics that demonstrate the need for dual exposure studies, including exemplar findings on (1) the associations between pregnant women’s inadequate maternal intake of key nutrients – protein, fat, iron, zinc, and choline – as well as distress in relation to overlapping effects on children’s neurocognitive development; and (2) cross-talk between the biology of stress and nutrition that can amplify each experience for the mother and fetus,. We also consider obstacles to this kind of study design, such as questions of statistical methods for ‘disentangling’ the exposure effects, and aim to provide some answers. Conclusion Studies that specifically include both exposures in their design can begin to determine the relative and/or synergistic impact of these prenatal experiences on developmental trajectories — and thereby contribute most fully to the understanding of the early origins of health and disease. PMID:23039359

  17. Prenatal Diagnosis of Right Dominant Heart in Fetuses: A Tertiary Center Experience over a 7-year Period

    PubMed Central

    Feng, Juan; Zhu, Mei; Liang, Hao; Li, Qiao

    2017-01-01

    Background: Right dominant heart (RDH) in fetuses can occur with a number of cardiac as well as noncardiac anomalies. Analysis of the enlargement of the right cardiac chamber in the fetus remains a major challenge for sonographers and echocardiographers. The aim of this study was to report the experience with prenatal diagnosis of RDH in the fetuses over a 7-year period. Methods: Fetuses with prenatal diagnosis of RDH from July 2009 to July 2016 were evaluated in two different categories: according to the gestational age, Group I (n = 154, second trimester) and Group II (n = 298, third trimester); and according to the fetal echocardiography diagnosis, Group A (n = 452, abnormal cardiac structure) and Group B (n = 90, normal cardiac structure). Differences in categorical variables were assessed by Chi-square exact test and continuous variables were evaluated by independent Student's t-test or Mann–Whitney U-test depending on parametric or nonparametric nature of the data. Results: Over a 7-year period, 452 fetuses were referred for the assessment of suspected RDH. Left-sided obstructive lesions were observed most frequently in the fetuses with RDH. When comparing Group I with Group II and Group A with Group B, the latter groups exhibited significant differences in the right/left ventricle (RV/LV) ratio (1.435 vs. 1.236, P = 0.002; 1.309 vs. 1.168, P = 0.047), RV width Z-score (1.626 vs. 1.104, P < 0.001; 1.553 vs. 0.814, P = 0.014), and above +2 cutoff percentages (14.3% vs. 22.5%; P = 0.038; 21.5% vs. 12.2%, P = 0.046). Multivariable logistic regression revealed no variables associated with perinatal survival. Conclusions: The study demonstrates that RDH warrants careful attention to the possible presence of a structural cardiac anomaly, especially left-sided obstructive lesions. A diagnosis of RDH is best supported by a combination of the RV Z-score and RV/LV ratio. Most of the fetuses with RDH and structurally normal hearts had favorable outcomes. PMID:28229989

  18. Prenatal and postnatal cocaine exposure predict teen cocaine use.

    PubMed

    Delaney-Black, Virginia; Chiodo, Lisa M; Hannigan, John H; Greenwald, Mark K; Janisse, James; Patterson, Grace; Huestis, Marilyn A; Partridge, Robert T; Ager, Joel; Sokol, Robert J

    2011-01-01

    Preclinical studies have identified alterations in cocaine and alcohol self-administration and behavioral responses to pharmacological challenges in adolescent offspring following prenatal exposure. To date, no published human studies have evaluated the relation between prenatal cocaine exposure and postnatal adolescent cocaine use. Human studies of prenatal cocaine-exposed children have also noted an increase in behaviors previously associated with substance use/abuse in teens and young adults, specifically childhood and teen externalizing behaviors, impulsivity, and attention problems. Despite these findings, human research has not addressed prior prenatal exposure as a potential predictor of teen drug use behavior. The purpose of this study was to evaluate the relations between prenatal cocaine exposure and teen cocaine use in a prospective longitudinal cohort (n=316) that permitted extensive control for child, parent and community risk factors. Logistic regression analyses and Structural Equation Modeling revealed that both prenatal exposure and postnatal parent/caregiver cocaine use were uniquely related to teen use of cocaine at age 14 years. Teen cocaine use was also directly predicted by teen community violence exposure and caregiver negativity, and was indirectly related to teen community drug exposure. These data provide further evidence of the importance of prenatal exposure, family and community factors in the intergenerational transmission of teen/young adult substance abuse/use.

  19. Prenatal Exposure to Bisphenol A and Phthalates and Infant Neurobehavior

    PubMed Central

    Yolton, Kimberly; Xu, Yingying; Strauss, Donna; Altaye, Mekibib; Calafat, Antonia M.; Khoury, Jane

    2011-01-01

    Objective To examine the association of prenatal exposure to bisphenol A and select common phthalates with infant neurobehavior measured at 5 weeks. Methods We compared the concentration of maternal urinary metabolites of bisphenol A and phthalates at two distinct time points in pregnancy (16w, 26w) with scores on the NICU Network Neurobehavioral Scale (NNNS) at 5 weeks of age in a cohort of 350 mother/infant pairs. Results Prenatal exposure to BPA was not significantly associated with neurobehavioral outcomes at 5 weeks. Significant associations between prenatal exposure to measured phthalates and infant neurobehavioral outcomes differed by type of phthalate and were only seen with exposure measured at 26 weeks. Higher total di-butyl phthalate (DBP) metabolites at 26w was associated with improved behavioral organization evidenced by decreased arousal (p=.04), increased self-regulation (p=.052), and decreased handling (p=.02). In males, higher total di-2-ethylhexyl phthalate (DEHP) metabolites at 26w was associated with more nonoptimal reflexes (p=.02). Conclusion The association between prenatal phthalate exposure and infant neurobehavior differed by type of phthalate and was evident only with exposure measured at 26w. Prenatal exposure to DBP was associated with improved behavioral organization in 5-week-old infants. Prenatal exposure to DEHP was associated with nonoptimal reflexes in male infants. There was no evidence of an association between prenatal BPA exposure and infant neurobehavior. PMID:21854843

  20. Prenatal Influences on Human Sexual Orientation: Expectations versus Data.

    PubMed

    Breedlove, S Marc

    2017-02-07

    In non-human vertebrate species, sexual differentiation of the brain is primarily driven by androgens such as testosterone organizing the brains of males in a masculine fashion early in life, while the lower levels of androgen in developing females organize their brains in a feminine fashion. These principles may be relevant to the development of sexual orientation in humans, because retrospective markers of prenatal androgen exposure, namely digit ratios and otoacoustic emissions, indicate that lesbians, on average, were exposed to greater prenatal androgen than were straight women. Thus, the even greater levels of prenatal androgen exposure experienced by fetal males may explain why the vast majority of them grow up to be attracted to women. However, the same markers indicate no significant differences between gay and straight men in terms of average prenatal androgen exposure, so the variance in orientation in men cannot be accounted for by variance in prenatal androgen exposure, but may be due to variance in response to prenatal androgens. These data contradict several popular notions about human sexual orientation. Sexual orientation in women is said to be fluid, sometimes implying that only social influences in adulthood are at work, yet the data indicate prenatal influences matter as well. Gay men are widely perceived as under-masculinized, yet the data indicate they are exposed to as much prenatal androgen as straight men. There is growing sentiment to reject "binary" conceptions of human sexual orientations, to emphasize instead a spectrum of orientations. Yet the data indicate that human sexual orientation is sufficiently polarized that groups of lesbians, on average, show evidence of greater prenatal androgen exposure than groups of straight women, while groups of gay men have, on average, a greater proportion of brothers among their older siblings than do straight men.

  1. Prenatal Diagnosis of CLOVES Syndrome Confirmed by Detection of a Mosaic PIK3CA Mutation in Cultured Amniocytes

    PubMed Central

    Emrick, Lisa T.; Murphy, Lauren; Shamshirsaz, Alireza A.; Ruano, Rodrigo; Cassady, Christopher I.; Liu, Liu; Chang, Fengqi; Sutton, V. Reid; Li, Marilyn; Van den Veyver, Ignatia B.

    2015-01-01

    Congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, a segmental overgrowth syndrome, is caused by post zygotic somatic mutations in PIK3CA, a gene involved in the receptor tyrosine kinase phosphatidylinositol 3-kinase (PI3)-AKT growth-signaling pathway. Prenatal ultrasound findings of lymphovascular malformations, segmental overgrowth and skeletal defects can raise suspicion for CLOVES syndrome, but molecular confirmation of PIK3CA mutations on prenatally obtained samples is challenging because of somatic mosaicism. We detected a mosaic disease-causing mutation in PIK3CA by sequencing of DNA extracted from cultured amniotic cells, but not from DNA directly prepared from an amniotic fluid sample in a fetus with prenatally suspected CLOVES syndrome. The infant was born prematurely and displayed severe lymphovascular malformations and segmental overgrowth consistent with a clinical diagnosis of CLOVES syndrome; he passed away at 29 days of life. We discuss the complexities and limitations of genetic testing for somatic mosaic mutations in the prenatal period and highlight the potential need for multiple approaches to arrive at a molecular diagnosis. PMID:25044986

  2. Yoga and massage therapy reduce prenatal depression and prematurity.

    PubMed

    Field, Tiffany; Diego, Miguel; Hernandez-Reif, Maria; Medina, Lissette; Delgado, Jeannette; Hernandez, Andrea

    2012-04-01

    Eighty-four prenatally depressed women were randomly assigned to yoga, massage therapy or standard prenatal care control groups to determine the relative effects of yoga and massage therapy on prenatal depression and neonatal outcomes. Following 12 weeks of twice weekly yoga or massage therapy sessions (20 min each) both therapy groups versus the control group had a greater decrease on depression, anxiety and back and leg pain scales and a greater increase on a relationship scale. In addition, the yoga and massage therapy groups did not differ on neonatal outcomes including gestational age and birthweight, and those groups, in turn, had greater gestational age and birthweight than the control group.

  3. Korean women's attitudes toward pregnancy and prenatal care.

    PubMed

    Pritham, U A; Sammons, L N

    1993-01-01

    A convenience sample of 40 native-born pregnant Korean women receiving prenatal care at a U.S. military facility in a major metropolitan area in Korea completed a questionnaire about attitudes toward pregnancy and prenatal care. Responses revealed a family life characterized by positive maternal and paternal perceptions of the pregnancy and less preference for a male child than we had anticipated. Traditional beliefs in Tae Mong, a conception dream, and Tae Kyo, rituals for safe childbirth, were followed. Food taboos, including protein sources, were reported. Attitudes toward prenatal care services, care providers, and maternal health habits are described.

  4. Evidence-based prenatal care: Part I. General prenatal care and counseling issues.

    PubMed

    Kirkham, Colleen; Harris, Susan; Grzybowski, Stefan

    2005-04-01

    Effective prenatal care should integrate the best available evidence into a model of shared decision making. Pregnant women should be counseled about the risks of smoking and alcohol and drug use. Structured educational programs to promote breastfeeding are effective. Routine fetal heart auscultation, urinalysis, and assessment of maternal weight, blood pressure, and fundal height generally are recommended, although the evidence for these interventions is variable. Women should be offered ABO and Rh blood typing and screening for anemia during the first prenatal visit. Genetic counseling and testing should be offered to couples with a family history of genetic disorders, a previously affected fetus or child, or a history of recurrent miscarriage. All women should be offered prenatal serum marker screening for neural tube defects and aneuploidy. Women at increased risk for aneuploidy should be offered amniocentesis or chorionic villus sampling. Counseling about the limitations and risks of these tests, as well as their psychologic implications, is necessary. Folic acid supplementation beginning in the preconception period reduces the incidence of neural tube defects. There is limited evidence that routine use of other dietary supplements may improve outcomes for the mother and infant.

  5. Karyotyping or rapid aneuploidy detection in prenatal diagnosis? The different views of users and providers of prenatal care.

    PubMed

    Boormans, E M A; Birnie, E; Bilardo, C M; Oepkes, D; Bonsel, G J; van Lith, J M M

    2009-09-01

    Developments in prenatal diagnosis raise the question which test strategy should be implemented. However, preferences of women and caregivers are underexposed. This study investigates what kind of prenatal test pregnant women and caregivers prefer and if differences between the groups exist, using self-report questionnaires. Women preferred either karyotyping (50%) or rapid aneuploidy detection (43%). Caregivers opted for the latter (78%). A test targeted on Down syndrome was the least preferred in both groups. We recommend the use of individualised choice for genetic test in prenatal diagnosis, overcoming the existing differences in preferences between women and caregivers.

  6. Prenatal development in fishers (Martes pennanti)

    USGS Publications Warehouse

    Frost, H.C.; Krohn, W.B.; Bezembluk, E.A.; Lott, R.; Wallace, C.R.

    2005-01-01

    We evaluated and quantified prenatal growth of fishers (Martes pennanti) using ultrasonography. Seven females gave birth to 21 kits. The first identifiable embryonic structures were seen 42 d prepartum; these appeared to be unimplanted blastocysts or gestational sacs, which subsequently implanted in the uterine horns. Maternal and fetal heart rates were monitored from first detection to birth. Maternal heart rates did not differ among sampling periods, while fetal hearts rates increased from first detection to birth. Head and body differentiation, visible limbs and skeletal ossification were visible by 30, 23 and 21 d prepartum, respectively. Mean diameter of gestational sacs and crown-rump lengths were linearly related to gestational age (P < 0.001). Biparietal and body diameters were also linearly related to gestational age (P < 0.001) and correctly predicted parturition dates within 1-2 d. ?? 2004 Elsevier Inc. All rights reserved.

  7. [Prenatal diagnostics and information to parents].

    PubMed

    de la Fuente Hontañón, Carmen

    2009-01-01

    New screening and prenatal diagnostic techniques, require the Medicine professionals have a clear purpose for its realization, since the intention determined the act is determined in accordance with the values of the Medicine or becoming an event eugenics act by means of "therapeutic abortion". The Family Physician information about these techniques to pregnant women must be based on the status of science, facilitating the risk of loss fetal and false data positive informing of therapeutic possibilities and facilitating respect for the pregnant woman's decision of non-fulfillment of the screening. The information update according to the state of science, should be provided in writing and the informed consent of the patient should be obtained by all professionals involved in testing, with respect shows for the autonomy of the patient.

  8. The prenatal development of the human orbit.

    PubMed

    de Haan, A B; Willekens, B; Klooster, J; Los, A A; van Zwieten, J; Botha, C P; Spekreijse, H; IJskes, S G; Simonsz, H J

    2006-03-01

    During the 1970s, as part of his work for a doctor's thesis in which he described the development of the human orbit in great detail, the first author established the largest anatomical collection of embryonic and fetal orbits ever. Unfortunately, he died before the thesis could be finished. The thousands of sections have now been scanned at high resolution and made publicly available on the Internet at www.visible-orbit.org; 3-D reconstruction software is being developed. The Discussion and part of the 'Methods' section of this thesis are published in translation in this article. The conclusions of the first author at the time read as follows: (1) initially, the developing orbit is vaguely indicated by condensations in the mesenchymal connective tissue area; (2) in this connective tissue area, chondral, osseous and muscular structures develop and grow until, in the fully developed stage, the orbital content is surrounded by bony surfaces with a thin layer of connective tissue as periosteum, and by a muscle fragment; (3) the embryonic and early fetal phase, during which one can only speak of a 'regio orbitalis,' is followed by a period in which we can speak of a primordial orbit; (4) the phase of the primordial orbit extends until after birth; (5) the surface area of all orbital walls increases more or less linearly; (6) the 'musculus orbitalis Mülleri' occupies a special place in the orbital wall; (7) the so-called 'regio craniolateralis' is the primordium, which, in the fully developed stage, is occupied by the thick intersection of the frontolateral and the horizontal part of the frontal bone; (8) in the frontal plane, the shape of the primordial orbit, as well as that of the fully developed orbit, is more or less round; (9) the prenatal development of an eye socket is a complex event, characterized by changes in composition, shape and size of the orbital wall; and (10) the orbit can only be denoted by the term "eye socket" when it is fully developed. At the

  9. Effect of Prenatal Zinc Supplementation on Birthweight

    PubMed Central

    Oosthuizen, Jacques; Beatty, Shelley

    2009-01-01

    Although iron and zinc deficiencies are known to occur together and also appear to be high in Ghana, a few supplementation studies addressed this concurrently in pregnancy. In a double-blind, randomized controlled trial, 600 pregnant women in Ghana were randomly assigned to receive either a combined supplement of 40 mg of zinc as zinc gluconate and 40 mg of iron as ferrous sulphate or 40 mg of elemental iron as ferrous sulphate. Overall, there was no detectable difference in the mean birthweight between the study groups, although the effect of iron-zinc supplementation on the mean birthweight was masked by a strong interaction between the type of supplement and the iron status of participants [F (1,179)=5.614, p=0.019]. Prenatal iron-zinc supplementation was effective in increasing the mean birthweight among anaemic and iron-deficient women but not among women with elevated iron stores in early pregnancy. PMID:19902797

  10. Communicating risk in prenatal genetic testing.

    PubMed

    Gates, Elena A

    2004-01-01

    Prenatal testing for Down syndrome and neural tube defects has become routine, and testing for other genetic conditions is becoming commonplace. Counseling about these tests involves a discussion of risk information, so pregnant women and their partners can use the information effectively when they make choices about testing. Discussing risk can be challenging, as many individuals, particularly those of lower literacy, have a poor understanding of the numerical concept of risk. Furthermore, whether risk is comprehended accurately or not, it is interpreted by patients in light of their existing knowledge and past experiences. Strategies available to optimize understanding of risk include communication of risk figures as frequencies rather than as probabilities or percentages and explicit discussion of a woman's preconceptions about her risk and about the condition being tested for.

  11. Prenatal diagnosis of androgen insensitivity syndrome.

    PubMed

    Bianca, S; Cataliotti, A; Bartoloni, G; Torrente, I; Barrano, B; Boemi, G; Lo Presti, M; Indaco, L; Barone, C; Ettore, G

    2009-01-01

    Androgen insensitivity syndrome (AIS) (OMIM 300068) is an X-linked recessive genetic disorder with an XY karyotype that is caused by androgen receptor (AR) defects. We report a prenatal diagnosis case with clinical and molecular findings. The fetal phenotype was female, moreover the autopsy revealed the presence of abdominal testes confirmed by histopathological examination. The AR gene molecular analysis performed on the fetal DNA showed the presence of a c.2493C>T change in exon 4. The single nucleotide change resulted in a Q711X amino acid substitution within the AR ligand-binding domain of the protein that has never been described before in the literature. AIS is an important consideration in pregnancies that show sex discordance in ultrasonography and karyotype results with the opportunity to perform molecular analysis of the AR gene in order to confirm the diagnosis.

  12. Congenital Fibrosarcoma and History of Prenatal Exposure to Petroleum Derivatives

    PubMed Central

    Soldin, Offie P.; López-Hernández, Fernando A.; Trasande, Leonardo; Ferrís-Tortajada, Josep

    2012-01-01

    Congenital fibrosarcoma (CFS) is a rare fibrous tissue malignancy that usually presents in the first few years of life. It is unique among human sarcomas in that it has an excellent prognosis. We describe a temporal clustering of a number of cases of CFS and investigate the possible associated prenatal risk factors. The Pediatric Environmental History, a questionnaire developed in our clinic that is instrumental in determining environmental risk factors for tumor-related disease, was essential in documenting the presence or absence of risk factors considered as human carcinogens. We found a history of exposure to petroleum products in four cases of CFS that occurred at a greater than expected rate in a short time frame–an apparent cancer cluster. We call attention to the possibility that exposure to petroleum products raises the risk of developing CFS. While future studies should focus on systematic investigation of CFS and its underlying mechanisms, this report suggests the need for proactive measures to avoid exposure to solvents and petroleum products during pregnancy. PMID:22945410

  13. Longevity is not influenced by prenatal programming of body size.

    PubMed

    Conover, Cheryl A; Bale, Laurie K; Grell, Jacquelyn A; Mader, Jessica R; Mason, Megan A

    2010-08-01

    Insulin-like growth factor (IGF) signaling is essential for achieving optimal body size during fetal development, whereas, in the adult, IGFs are associated with aging and age-related diseases. However, it is unclear as to what extent lifespan is influenced by events that occur during development. Here, we provide direct evidence that the exceptional longevity of mice with altered IGF signaling is not linked to prenatal programming of body size. Mice null for pregnancy-associated plasma protein-A (PAPP-A), an IGF-binding protein proteinase that increases local IGF bioavailability, are 60-70% the size of their wild-type littermates at birth and have extended median and maximum lifespan of 30-40%. In this study, PAPP-A(-/-) mice whose body size was normalized during fetal development through disruption of IgfII imprinting did not lose their longevity advantage. Adult-specific moderation of IGF signaling through PAPP-A inhibition may present a unique opportunity to improve lifespan without affecting important aspects of early life physiology.

  14. The Interaction Between Prenatal Exposure to Home Renovation and Reactive Oxygen Species Genes in Cord Blood IgE Response is Modified by Maternal Atopy

    PubMed Central

    Yu, Jinho; Shin, Youn Ho; Kim, Kyung Won; Suh, Dong In; Yu, Ho-Sung; Kang, Mi-Jin; Lee, Kyung-Shin; Hong, Seo Ah; Choi, Kil Yong; Lee, Eun; Yang, Song-I; Seo, Ju-Hee; Kim, Byoung-Ju; Kim, Hyo-Bin; Lee, So-Yeon; Choi, Suk-Joo; Oh, Soo-Young; Kwon, Ja-Young; Lee, Kyung-Ju; Park, Hee Jin; Lee, Pil Ryang; Won, Hye-Sung

    2016-01-01

    Purpose Although home renovation exposure during childhood has been identified as a risk factor for the development of allergy, there is limited information on the association between prenatal exposure to home renovation and cord blood (CB) IgE response. The aims of this study were to identify the effect of prenatal exposure to home renovation on CB IgE levels, and to investigate whether this exposure interacts with neonatal genes and whether the effect can be modified by maternal atopy. Methods This study included 1,002 mother-neonate pairs from the COhort for Childhood Origin of Asthma and allergic diseases (COCOA). Prenatal environmental factors were collected using a questionnaire. The levels of CB IgE were measured by the ImmunoCAP system, and DNA was extracted from CB. Results Exposure to home renovation during the prenatal period was associated with significantly higher levels of CB IgE only in neonates from atopic mothers, and the effect of renovation exposure on CB IgE levels persisted from 31 months before birth. Furthermore, prenatal exposure to home renovation increased the risk of CB IgE response interacting with polymorphisms of NRF2 and GSTP1 genes only in neonates from atopic mothers. Conclusions Maternal atopy modified the effect of prenatal exposure to home renovation on CB serum IgE response as well as the interaction between the exposure and neonatal genes involved in the oxidative stress pathway. These findings suggest that the genetically susceptible offspring of atopic mothers may be more vulnerable to the effect of prenatal exposure to home renovation on the development of allergy. PMID:26540500

  15. Prenatal development of the bovine oviduct.

    PubMed

    Kenngott, R A-M; Sinowatz, F

    2007-08-01

    In this study the development of the bovine Fallopian tube was investigated using light microscopic methods. Formation and differentiation of the Müllerian duct were studied in mesonephroi of 16 embryos and fetuses with a crown-rump lengths (CRL) of 0.9-8.4 cm. The funnel field, the rostral beginning of the Müllerian duct was first observed at a CRL of 0.9 cm. It appears as a thickening of the mesothelium on the craniolateral side of the mesonephros. During later development the Müllerian duct emerges by caudal outgrowth from the funnel field. Formation of a common basal lamina surrounding the caudal tips of Müllerian and Wolffian ducts could be observed at all stages up to CRL of 2.7 cm. The mesothelium and the epithelium of the Wolffian duct adjacent to the Müllerian duct showed a modification of epithelium height in all examined stages. Probably the Wolffian duct influences the growth of Müllerian duct by epithelio-mesenchymal interactions. Fetuses from a CRL of 12.0 to 94.0 cm were used for investigation of the prenatal differentiation of the oviductal mucosa. Folding of the oviductal mucosa started at a CRL of 29.0 cm and continued until birth. Individual primary, secondary and tertiary folds are formed in special proliferation zones and epithelium-folding buds. The cellular differentiation of the oviductal epithelium involves the formation of ciliated and secretory cells during different times of prenatal development. Ciliogenesis was first detected at a CRL of 33.0 cm. Active secretory cells could be observed in the oviductal epithelium from a CRL of 64.0 cm onwards.

  16. The role of FISH in prenatal diagnosis

    SciTech Connect

    Kulch, P.; Crandall, B.F.; Hsi, C.

    1994-09-01

    FISH provides a cytogenetic technique which is useful in defining de novo translocations, deletions, insertions, and marker chromosomes in prenatal diagnosis. While the cytogenetic interpretation may be improved with FISH, it may not resolve questions concerning prognosis and options which are genetic counseling issues. Two recent cases illustrate this. Case 1 involved a 45,X/46,X,+mar karyotype from amniocentesis. 22/50 cells had 46,X/46,X+mar; 28/50 cells had 45,X. The marker was smaller than a G. C banding did not confirm this as a Y. The father`s peripheral blood study was normal and his Y did not resemble the marker. It appeared likely that the marker was a structurally abnormal Y since male external genitalia were detected by fetal ultrasound. FISH using alpha- and classical (DYZ1/DYZ3) satellite Y-specific probes did not identify the marker as a Y. Case 2 was a fetus which had a de novo translocation 46,XX,t(3;11)(q26.3;q21) by amniocentesis and confirmed by UBS. FISH for the number 3 and 11 chromosomes confirmed this rearrangement. The parents were advised of the risk associated with a de novo balanced translocation. The possible prognosis for these two different fetuses was not changed by the FISH analysis. FISH, while helpful, is only one aspect of the studies done to provide more accurate genetic counseling to parents; the pregnancy/family history, fetal ultrasound, other possible prenatal studies and pregnancy outcome from perspective studies compose other important aspects that are not mutually exclusive.

  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

    Introdução: As cardiopatias congénitas complexas são patologias graves, e o diagnóstico pré-natal poderá ter implicações sobre a morbilidade e a mortalidade. O objetivo deste trabalho foi estudar a influência do diagnóstico pré-natal e da distância do local de parto a um centro de referência, na morbilidade imediata e mortalidade precoce de um grupo de doentes com cardiopatias congénitas complexas.Material e Métodos: Análise retrospetiva dos doentes com cardiopatias congénitas complexas, seguidos no nosso hospital, nascidos entre 2007 e 2012.Resultados: Identificaram-se 126 doentes com cardiopatias congénitas complexas. Em 95% a gravidez foi vigiada desde o primeiro trimestre existindo diagnóstico pré-natal em 42%. Houve relação estatisticamente significativa entre o local do parto e a existência de diagnóstico pré-natal. A cardiopatia congénita complexa mais frequente foi a transposição das grandes artérias (45,2%), seguida da atresia da pulmonar com comunicação interventricular (17,5%) e ventrículo esquerdo hipoplásico (9,5%). Oitenta e dois doentes (65,1%) foram medicados com prostaglandinas e 38 (30,2%) foram ventilados antes de uma intervenção. A cirurgia ocorreu no período neonatal em 73%. A sobrevida atuarial aos 30 dias, 12 e 24 meses foi 85%, 80% e 75%, respetivamente. Não houve relação estatisticamente significativa entre diagnóstico pré-natal e mortalidade.Discussão: A maioria dos doentes com cardiopatias congénitas complexas não teve diagnóstico pré-natal. Nos casos com diagnóstico pré-natal houve referenciação e parto num centro terciário. Não houve associação estatisticamente significativa entre diagnóstico prénatal e mortalidade neonatal, como já descrito em séries heterogéneas de cardiopatia congénita complexa.Conclusão: A maioria dos doentes com cardiopatias congénitas complexas não teve diagnóstico pré-natal. Estes dados devem ser tomados em conta no planeamento do diagnóstico pré-natal das cardiopatias congénitas.

  18. Fetal Programming of Adult Disease: Implications for Prenatal Care

    EPA Science Inventory

    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 ...

  19. Caring for opioid dependent pregnant women: prenatal and postpartum care considerations

    PubMed Central

    Krans, Elizabeth E.; Cochran, Gerald; Bogen, Debra L.

    2015-01-01

    Pregnancy is an opportune time to identify opioid dependence, facilitate conversion to opioid maintenance treatment, and coordinate care with specialists in addiction medicine, behavioral health and social services. Comprehensive prenatal care for opioid dependent women involves the evaluation and management of co-occurring psychiatric disorders, polysubstance use, infectious diseases, social stressors and counseling regarding the importance of breastfeeding, contraception and neonatal abstinence syndrome. While the complex psychiatric, social and environmental factors faced by this population pose significant challenges to obstetric care providers, the development of strong patient-provider relationships can facilitate the ability to deliver efficient and effective health care during pregnancy. PMID:25775440

  20. Caring for Opioid-dependent Pregnant Women: Prenatal and Postpartum Care Considerations.

    PubMed

    Krans, Elizabeth E; Cochran, Gerald; Bogen, Debra L

    2015-06-01

    Pregnancy is an opportune time to identify opioid dependence, facilitate conversion to opioid maintenance treatment, and coordinate care with specialists in addiction medicine, behavioral health, and social services. Comprehensive prenatal care for opioid-dependent women involves the evaluation and the management of co-occurring psychiatric disorders, polysubstance use, infectious diseases, social stressors, and counseling regarding the importance of breastfeeding, contraception, and neonatal abstinence syndrome. Although the complex psychiatric, social, and environmental factors faced by this population pose significant challenges to obstetric care providers, the development of strong patient-provider relationships can facilitate the ability to deliver efficient and effective health care during pregnancy.

  1. Methodological Issues in Assessing the Impact of Prenatal Drug Exposure

    PubMed Central

    Konijnenberg, Carolien

    2015-01-01

    Prenatal drug exposure is a common public health concern that can result in perinatal complications, birth defects, and developmental disorders. The growing literature regarding the effects of prenatal exposure to specific drugs such as tobacco, alcohol, cocaine, and heroin is often conflicting and constantly changing. This review discusses several reasons why the effects of prenatal drug exposure are so difficult to determine, including variations in dose, timing, duration of exposure, polydrug use, unreliable measures of drug exposure, latent or “sleeper” effects, genetic factors, and socioenvironmental influences. In addition to providing research guidelines, this review also aims to help clinicians and policy makers to identify the strengths and weaknesses in studies investigating the effects of prenatal drug exposure. This knowledge may be used to make better informed decisions regarding the appropriate treatment for pregnant, drug-dependent women and their children. PMID:26604776

  2. Prenatal music exposure induces long-term neural effects.

    PubMed

    Partanen, Eino; Kujala, Teija; Tervaniemi, Mari; Huotilainen, Minna

    2013-01-01

    We investigated the neural correlates induced by prenatal exposure to melodies using brains' event-related potentials (ERPs). During the last trimester of pregnancy, the mothers in the learning group played the 'Twinkle twinkle little star'-melody 5 times per week. After birth and again at the age of 4 months, we played the infants a modified melody in which some of the notes were changed while ERPs to unchanged and changed notes were recorded. The ERPs were also recorded from a control group, who received no prenatal stimulation. Both at birth and at the age of 4 months, infants in the learning group had stronger ERPs to the unchanged notes than the control group. Furthermore, the ERP amplitudes to the changed and unchanged notes at birth were correlated with the amount of prenatal exposure. Our results show that extensive prenatal exposure to a melody induces neural representations that last for several months.

  3. Prenatal Diagnosis by Amniocentesis and Chorionic Villus Biopsy

    PubMed Central

    Reynolds, J. L.

    1986-01-01

    Prenatal diagnosis forms only a small part of day-to-day family practice, but the techniques are of critical importance to couples at risk of having a child affected by genetic disorder. Second trimester amniocentesis will probably be replaced by first trimester chorionic villus biopsy and recombinant DNA technology, but the ethical and moral problems related to prenatal diagnosis are not so easily solved. Family physicians need to examine their own attitudes toward the handicapped before they offer counselling to couples at risk of bearing handicapped children. The controversy over abortion is central to the issue of prenatal diagnosis, and may only be resolved by development of prenatal treatments for certain genetic disorders. Sometimes the only thing we can offer patients is to be with them, in whatever their decisions bring. PMID:21274247

  4. Prenatal Music Exposure Induces Long-Term Neural Effects

    PubMed Central

    Partanen, Eino; Kujala, Teija; Tervaniemi, Mari; Huotilainen, Minna

    2013-01-01

    We investigated the neural correlates induced by prenatal exposure to melodies using brains' event-related potentials (ERPs). During the last trimester of pregnancy, the mothers in the learning group played the ‘Twinkle twinkle little star’ -melody 5 times per week. After birth and again at the age of 4 months, we played the infants a modified melody in which some of the notes were changed while ERPs to unchanged and changed notes were recorded. The ERPs were also recorded from a control group, who received no prenatal stimulation. Both at birth and at the age of 4 months, infants in the learning group had stronger ERPs to the unchanged notes than the control group. Furthermore, the ERP amplitudes to the changed and unchanged notes at birth were correlated with the amount of prenatal exposure. Our results show that extensive prenatal exposure to a melody induces neural representations that last for several months. PMID:24205353

  5. Prenatal diagnosis of a fetus with anencephaly and thumb agenesis.

    PubMed

    Barone, Chiara; Bartoloni, Giovanni; Cataliotti, Antonella; Indaco, Lara; Pappalardo, Elisa; Barrano, Barbara; Ettore, Giuseppe; Bianca, Sebastiano

    2012-03-01

    Severe anomalies of the forebrain together with reduction limb anomalies are a rare congenital anomalies association. We report a prenatal diagnosis of acalvaria, anencephaly and thumb agenesis in a voluntary terminated fetus and discuss the role of genetic counseling.

  6. Impact of prenatal environmental stress on cortical development

    PubMed Central

    Ishii, Seiji; Hashimoto-Torii, Kazue

    2015-01-01

    Prenatal exposure of the developing brain to various types of environmental stress increases susceptibility to neuropsychiatric disorders such as autism, attention deficit hyperactivity disorder and schizophrenia. Given that even subtle perturbations by prenatal environmental stress in the cerebral cortex impair the cognitive and memory functions, this review focuses on underlying molecular mechanisms of pathological cortical development. We especially highlight recent works that utilized animal exposure models, human specimens or/and induced Pluripotent Stem (iPS) cells to demonstrate: (1) molecular mechanisms shared by various types of environmental stressors, (2) the mechanisms by which the affected extracortical tissues indirectly impact the cortical development and function, and (3) interaction between prenatal environmental stress and the genetic predisposition of neuropsychiatric disorders. Finally, we discuss current challenges for achieving a comprehensive understanding of the role of environmentally disturbed molecular expressions in cortical maldevelopment, knowledge of which may eventually facilitate discovery of interventions for prenatal environment-linked neuropsychiatric disorders. PMID:26074774

  7. Caring for Our Future: The Content of Prenatal Care. A Report of the Public Health Service Expert Panel on the Content of Prenatal Care.

    ERIC Educational Resources Information Center

    National Institutes of Health (DHHS), Bethesda, MD.

    This report describes effective approaches for enhancing maternal, infant, and family outcomes based on the scientific and systematic assessment of the content of prenatal care conducted by the Public Health Service's Expert Panel on the Content of Prenatal Care. The range of risks, both medical and psychosocial, that the prenatal care provider…

  8. The comparative effects of group prenatal care on psychosocial outcomes.

    PubMed

    Heberlein, Emily C; Picklesimer, Amy H; Billings, Deborah L; Covington-Kolb, Sarah; Farber, Naomi; Frongillo, Edward A

    2016-04-01

    To compare the psychosocial outcomes of the CenteringPregnancy (CP) model of group prenatal care to individual prenatal care, we conducted a prospective cohort study of women who chose CP group (N = 124) or individual prenatal care (N = 124). Study participants completed the first survey at study recruitment (mean gestational age 12.5 weeks), with 89% completing the second survey (mean gestational age 32.7 weeks) and 84% completing the third survey (6 weeks' postpartum). Multiple linear regression models compared changes by prenatal care model in pregnancy-specific distress, prenatal planning-preparation and avoidance coping, perceived stress, affect and depressive symptoms, pregnancy-related empowerment, and postpartum maternal-infant attachment and maternal functioning. Using intention-to-treat models, group prenatal care participants demonstrated a 3.2 point greater increase (p < 0.05) in their use of prenatal planning-preparation coping strategies. While group participants did not demonstrate significantly greater positive outcomes in other measures, women who were at greater psychosocial risk benefitted from participation in group prenatal care. Among women reporting inadequate social support in early pregnancy, group participants demonstrated a 2.9 point greater decrease (p = 0.03) in pregnancy-specific distress in late pregnancy and 5.6 point higher mean maternal functioning scores postpartum (p = 0.03). Among women with high pregnancy-specific distress in early pregnancy, group participants had an 8.3 point greater increase (p < 0.01) in prenatal planning-preparation coping strategies in late pregnancy and a 4.9 point greater decrease (p = 0.02) in postpartum depressive symptom scores. This study provides further evidence that group prenatal care positively impacts the psychosocial well-being of women with greater stress or lower personal coping resources. Large randomized studies are needed to establish conclusively the

  9. A Randomized Trial of Prenatal versus Postnatal Repair of Myelomeningocele

    PubMed Central

    Adzick, N. Scott; Thom, Elizabeth A.; Spong, Catherine Y.; Brock, John W.; Burrows, Pamela K.; Johnson, Mark P.; Howell, Lori J.; Farrell, Jody A.; Dabrowiak, Mary E.; Sutton, Leslie N.; Gupta, Nalin; Tulipan, Noel B.; D'Alton, Mary E.; Farmer, Diana L.

    2013-01-01

    Background Prenatal repair of myelomeningocele, the most common form of spina bifida, may result in better neurologic function than repair deferred until after delivery. We compared outcomes of in utero repair with standard postnatal repair. Methods We randomly assigned eligible women to undergo either prenatal surgery before 26 weeks of gestation or standard postnatal repair. One primary outcome was a composite of fetal or neonatal death or the need for placement of a cerebrospinal fluid shunt by the age of 12 months. Another primary outcome at 30 months was a composite of mental development and motor function. Results The trial was stopped for efficacy of prenatal surgery after the recruitment of 183 of a planned 200 patients. This report is based on results in 158 patients whose children were evaluated at 12 months. The first primary outcome occurred in 68% of the infants in the prenatal-surgery group and in 98% of those in the postnatal-surgery group (relative risk, 0.70; 97.7% confidence interval [CI], 0.58 to 0.84; P<0.001). Actual rates of shunt placement were 40% in the prenatal-surgery group and 82% in the postnatal-surgery group (relative risk, 0.48; 97.7% CI, 0.36 to 0.64; P<0.001). Prenatal surgery also resulted in improvement in the composite score for mental development and motor function at 30 months (P = 0.007) and in improvement in several secondary outcomes, including hindbrain herniation by 12 months and ambulation by 30 months. However, prenatal surgery was associated with an increased risk of preterm delivery and uterine dehiscence at delivery. Conclusions Prenatal surgery for myelomeningocele reduced the need for shunting and improved motor outcomes at 30 months but was associated with maternal and fetal risks. (Funded by the National Institutes of Health; ClinicalTrials.gov number, NCT00060606.) PMID:21306277

  10. Prenatal and postnatal prevalence of Turner's syndrome: a registry study.

    PubMed Central

    Gravholt, C. H.; Juul, S.; Naeraa, R. W.; Hansen, J.

    1996-01-01

    OBJECTIVE--To study prevalence of Turner's syndrome in Denmark and to assess validity of prenatal diagnosis. DESIGN--Study of data on prenatal and postnatal Turner's syndrome in Danish Cytogenetic Central Register. SUBJECTS--All registered Turner's syndrome karyotypes (100 prenatal cases and 215 postnatal cases) during 1970-93. MAIN OUTCOME MEASURES--Prevalence of Turner's syndrome karyotypes among prenatally tested fetuses and Turner's syndrome among liveborn infants. RESULTS--Among infant girls, prevalence of Turner's syndrome was 32/100,000. Among female fetuses tested by amniocentesis, prevalence of Turner's syndrome karyotypes was 176/100,000 (relative risk of syndrome, 6.74 compared with prevalence among untested pregnancies). Among female fetuses tested by chorion villus sampling, prevalence of syndrome karyotypes was 392/100,000 (relative risk, 16.8). We excluded prenatal tests referred because of results of ultrasound scanning: among fetuses tested by amniocentesis revised relative risk was 5.68, while revised relative risk among fetuses tested by chorion villus sampling was 13.3. For 29 fetuses with prenatal diagnosis of possible Turner's syndrome, pregnancy was allowed to continue and 24 children were live born. Thirteen of these children were karyotyped postnatally, and diagnosis of Turner's syndrome had to be revised for eight, seven being normal girls and one boy. This gives tentative predictive value of amniocentesis in diagnosing Turner's syndrome of between 21% and 67%. There was no significant relation between mother's age and risk of Turner's syndrome. CONCLUSIONS--Discrepancy between prenatal and postnatal prevalence of Turner's syndrome challenges specificity of prenatal examination in diagnosing Turner's syndrome. PMID:8555850

  11. Nurse managed prenatal programs affect outcomes for corporations.

    PubMed

    Thompson, P E; Bitowski, B E; Bell, P L

    1997-09-01

    Faced with higher medical costs and increased insurance premiums, corporations are focusing on health promotion and wellness. With increasing numbers of women in the workforce, corporations have identified the need for prenatal programs. By developing, initiating, and evaluating outcome-based prenatal programs nurses can target the health care needs of this select population. One such program documented several outcomes including improved employee health and an 86% reduction in maternal/newborn costs.

  12. [Rare case of bilateral pulmonary agenesis and prenatal diagnosis].

    PubMed

    Veluppillai, C; Jossic, F; Quéré, M-P; Philippe, H-J; Le Vaillant, C

    2014-01-01

    Bilateral pulmonary agenesis (BPA) is a rare congenital lung malformation. The prognosis is severe as it is incompatible with extra-uterine life. Although multiple prenatal imaging modalities are developed, the prenatal diagnosis of BPA remains problematic. We report a case of BPA observed in our unity and for which the diagnosis was not clearly identified during the evaluation. This report illustrates the need to consider all the imaging aspects and particularly during US examination suspecting BPA.

  13. Environmental enrichment restores cognitive deficits induced by prenatal maternal seizure.

    PubMed

    Xie, Tao; Wang, Wei-ping; Jia, Li-jing; Mao, Zhuo-feng; Qu, Zhen-zhen; Luan, Shao-qun; Kan, Min-chen

    2012-08-27

    Maternal seizure has adverse effects on brain histology as well as on learning and memory ability in progeny. An enriched environment (EE) is known to promote structural changes in the brain and improve cognitive and motor deficits following a variety of brain injuries. Whether EE treatment in early postnatal periods could restore cognitive impairment induced by prenatal maternal seizure is unknown. Adult female Sprague-Dawley rats were randomly separated into two groups and were injected intraperitoneally either saline or pentylenetetrazol (PTZ) for 30 days. Then the fully kindled rats and control animals were allowed to mate. PTZ administration was continued until delivery, while the control group received saline at the same time. After weaning at postnatal day 22, one-half of the male offspring in the control and in the prenatal maternal group were given the environmental enrichment treatment through all the experiments until they were tested. Morris water maze testing was performed at 8 weeks of age. Western blot and synaptic ultrastructure analysis were then performed. We found that EE treatment reversed spatial learning deficits induced by prenatal maternal seizure. An EE also reversed the changes in synaptic ultrastructure following prenatal maternal seizure. In addition, prenatal maternal seizure significantly decreased phosphorylation states of cAMP response element binding (CREB) in the hippocampus, whereas EE reversed this reduced expression. These findings suggest that EE treatment on early postnatal periods could be a potential therapy for improving cognitive deficits induced by prenatal maternal seizure.

  14. Prenatal Nutritional Deficiency and Risk of Adult Schizophrenia

    PubMed Central

    Brown, Alan S.; Susser, Ezra S.

    2008-01-01

    Converging evidence suggests that a neurodevelopmental disruption plays a role in the vulnerability to schizophrenia. The authors review evidence supporting in utero exposure to nutritional deficiency as a determinant of schizophrenia. We first describe studies demonstrating that early gestational exposure to the Dutch Hunger Winter of 1944–1945 and to a severe famine in China are each associated with an increased risk of schizophrenia in offspring. The plausibility of several candidate micronutrients as potential risk factors for schizophrenia and the biological mechanisms that may underlie these associations are then reviewed. These nutrients include folate, essential fatty acids, retinoids, vitamin D, and iron. Following this discussion, we describe the methodology and results of an epidemiologic study based on a large birth cohort that has tested the association between prenatal homocysteine, an indicator of serum folate, and schizophrenia risk. The study capitalized on the use of archived prenatal serum specimens that make it possible to obtain direct, prospective biomarkers of prenatal insults, including levels of various nutrients during pregnancy. Finally, we discuss several strategies for subjecting the prenatal nutritional hypothesis of schizophrenia to further testing. These approaches include direct assessment of additional prenatal nutritional biomarkers in relation to schizophrenia in large birth cohorts, studies of epigenetic effects of prenatal starvation, association studies of genes relevant to folate and other micronutrient deficiencies, and animal models. Given the relatively high prevalence of nutritional deficiencies during pregnancy, this work has the potential to offer substantial benefits for the prevention of schizophrenia in the population. PMID:18682377

  15. Offering prenatal diagnostic tests: European guidelines for clinical practice [corrected].

    PubMed

    Skirton, Heather; Goldsmith, Lesley; Jackson, Leigh; Lewis, Celine; Chitty, Lyn

    2014-05-01

    For over four decades, it has been possible to offer prenatal diagnostic testing for fetal abnormalities. Prenatal testing is now available for a wide range of monogenic disorders as well as chromosomal abnormalities and should be provided within the ethical framework of informed consent and autonomous choice. However, there are no published guidelines for health professionals from varied disciplines who offer prenatal diagnosis (PND) in a range of possible settings including departments of maternity, obstetrics and clinical genetics. We used an Expert Group technique to develop a set of guidelines for provision of prenatal diagnostic services. Thirteen European health professionals, all experts in PND, participated in a workshop to develop the guidelines, which were then subjected to a wide consultation process. The objective of PND was defined as providing prenatal diagnostic testing services (for genetic conditions) that enable families to make informed choices consistent with their individual needs and values and which support them in dealing with the outcome of such testing. General principles, logistical considerations, clinical care and counselling topics are all described and are equally applicable to invasive and non-invasive testing. These guidelines provide a framework for ethical clinical care; however, they are flexible enough to enable practitioners to adapt them to their particular setting. Ideally, an individualised approach to each family is required to ensure autonomous choice and informed consent regarding prenatal diagnostic testing within the local ethical and legal framework.

  16. Pleomorphic carcinoma of the pancreas: computed-tomographic, sonographic, and pathologic findings

    SciTech Connect

    Wolfman, N.T.; Karstaedt, N.; Kawamoto, E.H.

    1985-02-01

    The authors present a series of eight cases of pleomorphic carcinoma of the pancreas, an uncommon lesion that contains bizarre giant cells and resembles sarcoma histologically. To our knowledge, this entity has not been described in the radiological literature. Clinical symptoms are similar to those of the usual pancreatic ductal cell carcinoma, but at presentation the primary tumor mass is usually large, and widespread metastatic disease is present. The most striking finding is massive lymphadenopathy, which may mimic lymphoma. A combination of clinical history, imaging findings, and results of percutaneous biopsy should lead to the proper diagnosis and may help to differentiate this entity from others that may affect lymph nodes.

  17. Salivary cortisol levels are elevated in the afternoon and at bedtime in children with prenatal alcohol exposure.

    PubMed

    Keiver, Kathy; Bertram, Chris P; Orr, Alison Pritchard; Clarren, Sterling

    2015-02-01

    Prenatal alcohol exposure can cause dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis, which may underlie some of the behavioral and adaptive problems seen in individuals with Fetal Alcohol Spectrum Disorders (FASD). Infants prenatally exposed to alcohol show altered basal and post-stress cortisol levels, but it is unknown if this persists beyond 2 years of age. It is also unknown if cortisol levels can be normalized through intervention programs. In this study, we investigated the effects of a physical activity program for children with FASD to determine: 1) if HPA dysregulation persists in school-age children with FASD, and 2) the effect of our program on cortisol levels. Twenty six children (ages 6-14 years) with FASD participated in an 8 week motor skill development program. Salivary cortisol levels were measured in 24 children and compared at 4 time points: before, immediately after, 3 months, and 1 year after program completion. Cortisol levels were also compared to 32 control children to evaluate the long-term effects of prenatal alcohol exposure on HPA regulation. For each time point, saliva was collected on each of 2 days at 3 times in the diurnal cycle: awakening, after school, and just before bedtime. Cortisol levels were significantly higher in the afternoon and at bedtime in children with FASD with confirmed prenatal exposure to high levels of alcohol (alcohol exposure rank 4), compared with Control children or children with FASD with exposure to low or unknown levels of alcohol (alcohol exposure rank 3). The program did not significantly affect cortisol levels in children with FASD as a group. These results provide support for long-term effects of prenatal alcohol exposure on the HPA system in humans, which could increase vulnerability to mental health issues and diseases later in life.

  18. A new sonographic method for the evaluation of skin permeability changes after irradiation with low-frequency ultrasound

    NASA Astrophysics Data System (ADS)

    Novario, Raffaele; Tanzi, Fabio; Goddi, Alfredo; Monico, Roberto; Fachinetti, Camilla; Lega, Mario; Onori, Roberto; Pavani, Francesca

    2007-03-01

    The irradiation of the skin with low-frequency ultrasound (42 MHz) increases the skin permeability, allowing the US stimulated drug delivery (sonophoresis). The changes in the skin permeability is generally demonstrated with the measurement of corneometry and transepidermal water loss (TEWL). A novel ultrasound scanner with a 50 MHz probe was used for acquiring images of the skin (penetration depth few millimeters). The images show the different epidermal and dermis layers. A specially designed plexiglas basin containing an US transducer was used. Water was used as matching medium. The transducer was set to generate a 42 MHz continuous wave US beam with an intensity of 150 mW/cm2 for a chosen preset time. Ninety healthy volunteers were submitted to exposure of the back of the hand. The back of the hand of each person was scanned at 50 MHz before the irradiation and after 1, 15 and 60 minutes. A significant variation of the stratum corneum and the derma on the sonographic image was found. A particular software code was developed in order to quantify the amount of the variation in the image, using different parameters (entropy, energy, skewness, kurtosis, etc.) related to the pixel value in different regions of interest and to the cumulated profile along lines perpendicular to the skin surface. The variations in the parameters so defined were demonstrated to be statistically significant and with a sensibility much higher than corneometry and TEWL. This new approach allow to better understand the mechanism and quantify the changes in the skin permeability.

  19. Sonographic screening for urinary tract abnormalities in patients with Schistosoma haematobium infection: pitfalls in examining pregnant women.

    PubMed

    Richter, J; Wagatsuma, Y; Aryeetey, M; Feldmeier, H

    1996-01-01

    In areas where Schistosoma haematobium is endemic, urinary schistosomiasis and pregnancy are frequently concomitant; however, both these conditions may produce similar urinary tract changes in ultrasound scans and hence their differential diagnosis may be difficult. In patients with urinary schistosomiasis, focal and/or diffuse urinary bladder wall changes are frequently detected ultrasonically. Dilatation of one or both ureters and progressive hydronephrosis may be observed in more severe cases. Satisfactory ultrasound examination of the urinary bladders of pregnant women is generally not feasible because mechanical compression by the fetus or transitory lower urinary tract infection hampers adequate filling of the bladder. Pregnancy itself is frequently associated with dilatation of one or both ureters and/or hydronephrosis; this is due to hormonal factors, infection, or compression of one or both ureters by the enlarged uterus and growing fetus. Hence, when sonography of the urinary bladder is not feasible such pregnancy-associated changes are virtually indistinguishable from those caused by S. haematobium, and may be incorrectly attributed to the latter. Pregnant women, therefore, should be excluded from ultrasonic surveys of urinary schistosomiasis. In contrast, ultrasound scans of adolescents and of women with positive parasitological findings and/or pathological alterations in the urinary tract should include examination of the uterus in order to assess whether the woman is pregnant; thereby, misinterpretation of sonographic findings can be avoided. Pregnant women with significant hydronephrosis must be closely followed up by an obstetrician since this condition may indicate a complication of the pregnancy; in some cases only a postpartum examination will permit definitive diagnosis.

  20. Non-invasive prenatal testing using massively parallel sequencing of maternal plasma DNA: from molecular karyotyping to fetal whole-genome sequencing.

    PubMed

    Lo, Y M Dennis

    2013-12-01

    The discovery of cell-free fetal DNA in maternal plasma in 1997 has stimulated a rapid development of non-invasive prenatal testing. The recent advent of massively parallel sequencing has allowed the analysis of circulating cell-free fetal DNA to be performed with unprecedented sensitivity and precision. Fetal trisomies 21, 18 and 13 are now robustly detectable in maternal plasma and such analyses have been available clinically since 2011. Fetal genome-wide molecular karyotyping and whole-genome sequencing have now been demonstrated in a number of proof-of-concept studies. Genome-wide and targeted sequencing of maternal plasma has been shown to allow the non-invasive prenatal testing of β-thalassaemia and can potentially be generalized to other monogenic diseases. It is thus expected that plasma DNA-based non-invasive prenatal testing will play an increasingly important role in future obstetric care. It is thus timely and important that the ethical, social and legal issues of non-invasive prenatal testing be discussed actively by all parties involved in prenatal care.

  1. Significance of Sonographically Demonstrated Ureteral Dilatation in Evaluation of Vesicoureteral Reflux Verified with Voiding Urosonography in Children with Urinary Tract Infection

    PubMed Central

    Carovac, Aladin; Zubovic, Sandra Vegar; Carovac, Marklena; Pasic, Irmina Sefic

    2015-01-01

    Objectives: The aim of this study was to determine sensitivity, specificity, and predictive values of sonographically demonstrated ureteral dilatation in detecting vesicoureteral reflux (VUR). Methods: Ethical approval from the Ethical Committee of Clinical Center University of Sarajevo and parental consent were obtained for this prospective study involving 120 children with history of urinary tract infections (UTIs). Ultrasound examination included the evaluation of the urinary tract, with a special emphasis on evaluation of ureteral dilatation. Voiding urosonography (VUS) was carried out according to a standard protocol with the use of ultrasound contrast agent Sono Vue of second generation. Ureteral diameter greater than 3 mm was considered pathological. Proven VUR was graded into one of three stages. Results: Infectio tracti urinarii recidivans was referral diagnosis in the majority of patients. The average age of patients was 4.33 ± 3.88 years (from 2 months to 16 years of age). VUS findings were normal in 59 (49.2%), and pathological in 61 (50.8%) patients. Statistical analysis showed significant correlation between type and grade of VUR. Our data confirmed predominance of VUR in females and in children under the age of 5. Statistically significant correlation between ureteral dilatation and the existence of VUR was found, with relatively high sensitivity (67.2%), specificity (81.4%), and high positive (78.8%) and negative predictive value (70.6%), total diagnostic accuracy of 74.2% in detecting VUR, and significantly increased probability (20 – 25%) of detecting VUR in patients with sonographically confirmed ureteral dilatation. Conclusion: Sonographically confirmed ureteral dilatation can be used as a predictor of VUR in children with UTIs, and in combination with other predictors, might find a place in an evidence-based selective strategy in children with suspected VUR. PMID:26635432

  2. The effects of ethnicity, education and an informational video on pregnant women's knowledge and decisions about a prenatal diagnostic screening test.

    PubMed

    Browner, C H; Preloran, M; Press, N A

    1996-03-01

    Prenatal screening for genetic disease and developmental disabilities is rapidly becoming a routine part of the management of low-risk pregnancies. Yet research on how to best inform pregnant women about these tests and their special ethical entailments remains sparse. We asked 130 low-risk pregnant women of diverse ethnic and social class backgrounds a series of questions about a prenatal test they had been offered within the previous 3 months. All had been given an informational booklet about the test at the time it was offered; about half also saw a video. We found that neither group of women retained much of the information they had received about the prenatal screening but that those who saw the video remembered more. Information-retention also varied significantly by ethnicity and level of education.

  3. Prenatal zinc prevents communication impairments and BDNF disturbance in a rat model of autism induced by prenatal lipopolysaccharide exposure.

    PubMed

    Kirsten, Thiago B; Queiroz-Hazarbassanov, Nicolle; Bernardi, Maria M; Felicio, Luciano F

    2015-06-01

    Aims: Previous investigations by our group have shown that prenatal exposure to lipopolysaccharide (LPS),which mimics infections by Gram-negative bacteria, induced autistic-like behavior. No effective treatment yet exists for autism. Therefore, we used our rat model to test a possible treatment for autism.We selected zinc as the prenatal treatment to prevent or ease the impairments induced by LPS because LPS induces hypozincaemia.Materials and methods:We evaluated the effects of LPS and zinc on female reproductive performance. Communication,which is impaired in autism,was tested in pups by ultrasonic vocalizations. Plasma levels of brain-derived neurotrophic factor (BDNF) were determined because it has been considered an autism important biomarker.Key findings: Prenatal LPS exposure reduced offspring number and treatment with zinc prevented this reduction.Moreover, pups that were prenatally exposed to LPS spent longer periods without calling their mothers, and posttreatment with zinc prevented this impairment induced by LPS to the same levels as controls. Prenatal LPS also increased BDNF levels in adult offspring, and posttreatment with zinc reduced the elevation of BDNF to the same levels as controls.Significance: BDNF hyperactivity was also found in several studies of autistic patients. Together with our previous studies, our model of prenatal LPS induced autistic-like behavioral, brain, and immune disturbances. This suggests that it is a valid rat model of autism. Prenatal zinc prevented reproductive, communication, and BDNF impairments.The present study revealed a potential beneficial effect of prenatal zinc administration for the prevention of autism with regard to the BDNF pathway.

  4. Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening.

    PubMed

    van Schendel, Rachèl V; Kleinveld, Johanna H; Dondorp, Wybo J; Pajkrt, Eva; Timmermans, Danielle R M; Holtkamp, Kim C A; Karsten, Margreet; Vlietstra, Anne L; Lachmeijer, Augusta M A; Henneman, Lidewij

    2014-12-01

    Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and men towards NIPT, and their views on widening the scope of prenatal testing in a country with a low uptake of prenatal screening (The Netherlands). Five focus groups with low-risk pregnant women (n=28), three focus groups with men (n=19) and 13 interviews with high- and low-risk pregnant women were conducted. Participants felt that current prenatal screening has great disadvantages such as uncertain results and risk of miscarriage from follow-up diagnostics. Characteristics of NIPT (accurate, safe and early testing) could therefore diminish these disadvantages of prenatal screening and help lower the barrier for participation. This suggests that NIPT might allow couples to decide about prenatal testing based mostly on their will to test or not, rather than largely based on fear of miscarriage risk or the uncertainty of results. The lower barrier for participation was also seen as a downside that could lead to uncritical use or pressure to test. Widening the scope of prenatal testing was seen as beneficial for severe disorders, although it was perceived difficult to determine where to draw the line. Participants argued that there should be a limit to the scope of NIPT, avoiding testing for minor abnormalities. The findings suggest that NIPT could enable more meaningful decision-making for prenatal screening. However, to ensure voluntary participation, especially when testing for multiple disorders, safeguards on the basis of informed decision-making will be of utmost importance.

  5. Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

    PubMed Central

    van Schendel, Rachèl V; Kleinveld, Johanna H; Dondorp, Wybo J; Pajkrt, Eva; Timmermans, Danielle R M; Holtkamp, Kim C A; Karsten, Margreet; Vlietstra, Anne L; Lachmeijer, Augusta M A; Henneman, Lidewij

    2014-01-01

    Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and men towards NIPT, and their views on widening the scope of prenatal testing in a country with a low uptake of prenatal screening (The Netherlands). Five focus groups with low-risk pregnant women (n=28), three focus groups with men (n=19) and 13 interviews with high- and low-risk pregnant women were conducted. Participants felt that current prenatal screening has great disadvantages such as uncertain results and risk of miscarriage from follow-up diagnostics. Characteristics of NIPT (accurate, safe and early testing) could therefore diminish these disadvantages of prenatal screening and help lower the barrier for participation. This suggests that NIPT might allow couples to decide about prenatal testing based mostly on their will to test or not, rather than largely based on fear of miscarriage risk or the uncertainty of results. The lower barrier for participation was also seen as a downside that could lead to uncritical use or pressure to test. Widening the scope of prenatal testing was seen as beneficial for severe disorders, although it was perceived difficult to determine where to draw the line. Participants argued that there should be a limit to the scope of NIPT, avoiding testing for minor abnormalities. The findings suggest that NIPT could enable more meaningful decision-making for prenatal screening. However, to ensure voluntary participation, especially when testing for multiple disorders, safeguards on the basis of informed decision-making will be of utmost importance. PMID:24642832

  6. Meningococcal Disease: Information for Teens and College Students

    MedlinePlus

    ... Pediatrician Ages & Stages Prenatal Baby Toddler Preschool Gradeschool Teen Dating & Sex Fitness Nutrition Driving Safety School Substance Abuse Young Adult Healthy Children > Ages & Stages > Teen > Meningococcal Disease: Information for Teens and College Students ...

  7. Effect of xylazine, isoxsuprine, and lidocaine on Doppler sonographic uterine and umbilical blood flow measurements in cows during the last month of pregnancy.

    PubMed

    Waldvogel, D; Bleul, U

    2014-04-15

    The maternal portion of the bovine placenta receives blood mainly from the uterine arteries (AUT) and the fetal portion from the umbilical arteries (AUM). Placental perfusion is crucial for fetal development and undergoes adaptive changes during pregnancy according to the fetal requirements. One goal of this study was to investigate changes in Doppler sonographic measurements of blood vessels that supply blood to the placenta in cows during the last 4 weeks of pregnancy. Another goal was to examine how these measurements are affected by three drugs commonly used in cows at the time of parturition. Nine cows underwent Doppler sonographic examination of the AUT ipsilateral and contralateral to the pregnant horn and one AUM three times per week during the last 4 weeks of gestation. This was followed by the randomized administration of one of the three following experimental drugs per day: isoxsuprine (200 mg/cow, iv), xylazine (2 mg/100 kg, iv), and lidocaine for epidural anesthesia (100 mg/cow). Doppler sonographic examination was repeated 30 minutes after medication. Maternal pulse rate increased during the study period (P < 0.001), and the diameter of the contralateral AUT was smaller in the last week before birth than in the two preceding weeks. The resistance index (RI) of the ipsilateral AUT was smaller in the last week than in the first 2 weeks of the study period. Uterine blood flow volume increased after isoxsuprine by 5% and after epidural anesthesia by 6% (both P ≤ 0.05) and decreased after xylazine by 10% (P < 0.001). Isoxsuprine was the only drug that elevated the blood flow volume in the AUM (P ≤ 0.05). Xylazine increased the RI of both AUT (both P < 0.001) and significantly reduced maternal and fetal pulse frequencies, whereas isoxsuprine significantly reduced the RI of both AUT and the AUM and increased maternal and fetal pulse frequencies. The results reported that Doppler sonographic measurements of uterine and AUM change little in the last

  8. Terms, definitions and measurements to describe the sonographic features of the endometrium and intrauterine lesions: a consensus opinion from the International Endometrial Tumor Analysis (IETA) group.

    PubMed

    Leone, F P G; Timmerman, D; Bourne, T; Valentin, L; Epstein, E; Goldstein, S R; Marret, H; Parsons, A K; Gull, B; Istre, O; Sepulveda, W; Ferrazzi, E; Van den Bosch, T

    2010-01-01

    The IETA (International Endometrial Tumor Analysis group) statement is a consensus statement on terms, definitions and measurements that may be used to describe the sonographic features of the endometrium and uterine cavity on gray-scale sonography, color flow imaging and sonohysterography. The relationship between the ultrasound features described and the presence or absence of pathology is not known. However, the IETA terms and definitions may form the basis for prospective studies to predict the risk of different endometrial pathologies based on their ultrasound appearance.

  9. [The need of prenatal public health initiatives in Poland].

    PubMed

    Jarosz, Mirosław J

    2012-11-01

    The author emphasizes the achievements of the Polish Gynecological Society in the field of improving the health indicators concerning perinatal mortality among infants during the last two decades in Poland. Attention is paid to the contribution of the members of the Society to organizational change in Polish health care after 1990, which resulted in the improvement of the care of mother and child. It is also underlined that the members of the Society contributed to the creation of early detection system of breast and cervical cancer in Poland. However it is noteworthy that in 'Polish Gynecology' - the publication of the Polish Gynecological Society - the number of reports devoted to risky health behaviors of women during periconceptional period and pregnancy is scarce. The author draws attention to the percentage of women who smoke cigarettes and consume alcohol before and during pregnancy Emphasis is also placed on the problem of nutritional disorders (mainly pathological methods of dieting) among Polish women during the reproductive period and in the first weeks of pregnancy (before the pregnancy is confirmed). These aspects may result in epigenetic changes shaping the phenotype of the offspring. The author refers to the Barker's theory of Developmental Origins of Adult Diseases and warns that the above-mentioned health behaviors of women may bring about negative effects for the offspring and future generations, namely susceptibility to chronic diseases: arterial hypertension, obesity type 2 diabetes and metabolic syndrome. Negative effects for the health of offspring may also result from low level of physical activity of women before and during pregnancy The author concludes that it is necessary to intensify the efforts of the Polish Gynecological Society in the area of prenatal public health.

  10. Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma

    PubMed Central

    Wang, Yaoshen; Chen, Chao; Gao, Changxin; Yu, Song; Liu, Yan; Song, Wei; Asan; Zhu, Hongmei; Yang, Ling; Deng, Hongmei; Su, Yue; Yi, Xin

    2016-01-01

    Background Since the discovery of cell-free foetal DNA in the plasma of pregnant women, many non-invasive prenatal testing assays have been developed. In the area of skeletal dysplasia diagnosis, some PCR-based non-invasive prenatal testing assays have been developed to facilitate the ultrasound diagnosis of skeletal dysplasias that are caused by de novo mutations. However, skeletal dysplasias are a group of heterogeneous genetic diseases, the PCR-based method is hard to detect multiple gene or loci simultaneously, and the diagnosis rate is highly dependent on the accuracy of the ultrasound diagnosis. In this study, we investigated the feasibility of using targeted capture sequencing to detect foetal de novo pathogenic mutations responsible for skeletal dysplasia. Methodology/Principal Findings Three families whose foetuses were affected by skeletal dysplasia and two control families whose foetuses were affected by other single gene diseases were included in this study. Sixteen genes related to some common lethal skeletal dysplasias were selected for analysis, and probes were designed to capture the coding regions of these genes. Targeted capture sequencing was performed on the maternal plasma DNA, the maternal genomic DNA, and the paternal genomic DNA. The de novo pathogenic variants in the plasma DNA data were identified using a bioinformatical process developed for low frequency mutation detection and a strict variant interpretation strategy. The causal variants could be specifically identified in the plasma, and the results were identical to those obtained by sequencing amniotic fluid samples. Furthermore, a mean of 97% foetal specific alleles, which are alleles that are not shared by maternal genomic DNA and amniotic fluid DNA, were identified successfully in plasma samples. Conclusions/Significance Our study shows that capture sequencing of maternal plasma DNA can be used to non-invasive detection of de novo pathogenic variants. This method has the potential

  11. Sonographic Growth Charts for Kidney Length in Normal Korean Children: a Prospective Observational Study.

    PubMed

    Oh, Min-Su; Hwang, Geol; Han, Sanghoon; Kang, Hyun Sik; Kim, Seung Hyo; Kim, Young Don; Kang, Ki-Soo; Shin, Kyung-Sue; Lee, Mu Sook; Choi, Guk Myung; Han, Kyoung Hee

    2016-07-01

    Kidney length is the most useful parameter for clinical measurement of kidney size, and is useful to distinguish acute kidney injury from chronic kidney disease. In this prospective observational study of 437 normal children aged between 0 and < 13 years, kidney length was measured using sonography. There were good correlations between kidney length and somatic values, including age, weight, height, and body surface area. The rapid growth of height during the first 2 years of life was intimately associated with a similar increase in kidney length, suggesting that height should be considered an important factor correlating with kidney length. Based on our findings, the following regression equation for the reference values of bilateral kidney length for Korean children was obtained: kidney length of the right kidney (cm) = 0.051 × height (cm) + 2.102; kidney length of the left kidney (cm) = 0.051 × height (cm) + 2.280. This equation may aid in the diagnosis of various kidney disorders.

  12. Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling.

    PubMed

    Gilbert, B; Yardin, C; Briault, S; Belin, V; Lienhardt, A; Aubard, Y; Battin, J; Servaud, M; Philippe, H J; Lacombe, D

    2002-08-01

    We describe a set of monozygotic (MZ) female twins, one of whom presented with a typical Turner syndrome (TS) phenotype and the other a normal female phenotype. Prenatal fetal ultrasonographic examination showed a monochorial diamniotic pregnancy with a hygroma colli and growth delay in Twin A and no anomalies in Twin B. Karyotypic analysis performed on fetal blood samples demonstrated a 46,XX/45,X (23/2) mosaicism in Twin A and a normal 46,XX chromosome constitution in Twin B. At birth, Twin A presented with a typical TS and Twin B had a normal female phenotype. Postnatal cytogenetic investigation of blood lymphocytes showed the same 46,XX/45,X mosaicism in both twins: 46,XX/45,X (40/7) in Twin A and 46,XX/45,X (40/5) in Twin B. Further investigations at the age of 10 months showed in Twin A a 46,XX/45,X (98/2) mosaicism in lymphocytes and 100% of 45,X (50 analysed cells) in fibroblasts, and in Twin B a normal 46,XX (100 analysed cells) chromosome constitution in lymphocytes but a mild 46,XX/45,X (78/2) mosaicism in fibroblasts. Monozygosity was confirmed by molecular analysis. To our knowledge, this is the first report of prenatal diagnosis of MZ female twins discordant for TS. Review of reported sets of MZ female twins (eight cases) or triplets (one case) discordant for TS shows, as in the present case, that the phenotype correlates better with the chromosomal distribution of mosaicism in fibroblasts than in lymphocytes. In the blood of MZ twins chimerism may modify the initial allocation of the mosaicism. These results suggest that, in cases of prenatal diagnosis of MZ female twins discordant for TS, the phenotype of each twin would be better predicted from karyotype analysis of cells from amniotic fluid than from fetal blood.

  13. Prenatal choline supplementation mitigates the adverse effects of prenatal alcohol exposure on development in rats.

    PubMed

    Thomas, Jennifer D; Abou, Elizabeth J; Dominguez, Hector D

    2009-01-01

    Prenatal alcohol exposure can lead to a range of physical, neurological, and behavioral alterations referred to as fetal alcohol spectrum disorders (FASD). Variability in outcome observed among children with FASD is likely related to various pre- and postnatal factors, including nutritional variables. Choline is an essential nutrient that influences brain and behavioral development. Recent animal research indicates that prenatal choline supplementation leads to long-lasting cognitive enhancement, as well as changes in brain morphology, electrophysiology and neurochemistry. The present study examined whether choline supplementation during ethanol exposure effectively reduces fetal alcohol effects. Pregnant dams were exposed to 6.0g/kg/day ethanol via intubation from gestational days (GD) 5-20; pair-fed and lab chow controls were included. During treatment, subjects from each group received choline chloride (250mg/kg/day) or vehicle. Physical development and behavioral development (righting reflex, geotactic reflex, cliff avoidance, reflex suspension and hindlimb coordination) were examined. Subjects prenatally exposed to alcohol exhibited reduced birth weight and brain weight, delays in eye opening and incisor emergence, and alterations in the development of all behaviors. Choline supplementation significantly attenuated ethanol's effects on birth and brain weight, incisor emergence, and most behavioral measures. In fact, behavioral performance of ethanol-exposed subjects treated with choline did not differ from that of controls. Importantly, choline supplementation did not influence peak blood alcohol level or metabolism, indicating that choline's effects were not due to differential alcohol exposure. These data indicate early dietary supplements may reduce the severity of some fetal alcohol effects, findings with important implications for children of women who drink alcohol during pregnancy.

  14. Postnatal Evaluation and Outcome of Prenatal Hydronephrosis

    PubMed Central

    Sadeghi-Bojd, Simin; Kajbafzadeh, Abdol-Mohammad; Ansari-Moghadam, Alireza; Rashidi, Somaye

    2016-01-01

    Background: Prenatal hydronephrosis (PNH) is dilation in urinary collecting system and is the most frequent neonatal urinary tract abnormality with an incidence of 1% to 5% of all pregnancies. PNH is defined as anteroposterior diameter (APD) of renal pelvis ≥ 4 mm at gestational age (GA) of < 33 weeks and APD ≥ 7 mm at GA of ≥ 33 weeks to 2 months after birth. All patients need to be evaluated after birth by postnatal renal ultrasonography (US). In the vast majority of cases, watchful waiting is the only thing to do; others need medical or surgical therapy. Objectives: There is a direct relationship between APD of renal pelvis and outcome of PNH. Therefore we were to find the best cutoff point APD of renal pelvis which leads to surgical outcome. Patients and Methods: In this retrospective cohort study we followed 200 patients 1 to 60 days old with diagnosis of PNH based on before or after birth ultrasonography; as a prenatal or postnatal detected, respectively. These patients were referred to the nephrology clinic in Zahedan Iran during 2011 to 2013. The first step of investigation was a postnatal renal US, by the same expert radiologist and classifying the patients into 3 groups; normal, mild/moderate and severe. The second step was to perform voiding cystourethrogram (VCUG) for mild/moderate to severe cases at 4 - 6 weeks of life. Tc-diethylene triamine-pentaacetic acid (DTPA) was the last step and for those with normal VCUG who did not show improvement in follow-up examination, US to evaluate obstruction and renal function. Finally all patients with mild/moderate to severe PNH received conservative therapy and surgery was preserved only for progressive cases, obstruction or renal function ≤35%. All patients’ data and radiologic information was recorded in separate data forms, and then analyzed by SPSS (version 22). Results: 200 screened PNH patients with male to female ratio 3.5:1 underwent first postnatal control US, of whom 65% had normal, 18% mild

  15. Prenatal androgens time neuroendocrine sexual maturation.

    PubMed

    Wood, R I; Ebling, F J; I'Anson, H; Bucholtz, D C; Yellon, S M; Foster, D L

    1991-05-01

    The present study determined whether exposure to gonadal steroids in utero dictates the postnatal control of gonadotropin secretion in the lamb. There is a marked sex difference in the timing of neuroendocrine sexual maturation in sheep; while male lambs undergo a reduction in sensitivity to inhibitory gonadal steroid feedback by 10 weeks of age, females remain hypersensitive until 30 weeks. The hypothesis was tested that prenatal androgens advance the time of the decrease in feedback sensitivity, and hence the pubertal increase in pulsatile gonadotropin secretion. Pregnant ewes were injected each week with 100 mg testosterone cypionate im from 30-90 days of gestation (term is approximately 150 days). Five female lambs were born with masculinized external genitalia (penis and scrotum). These females, together with eight androgenized males, eight control males, and eight control females, were gonadectomized at 2 weeks of age and implanted with a Silastic capsule of estradiol to produce a constant steroid feedback signal. Blood samples were collected twice weekly to monitor trends in LH secretion. For determination of LH pulse frequency, samples were collected frequently (every 12 min for 4 h) at various intervals between 5 and 32 weeks of age. In males, a sustained increase in LH from biweekly blood samples, indicative of reduced sensitivity to inhibitory steroid feedback, began at 10.1 +/- 1.4 weeks (mean +/- SE) of age in control males and at 5.4 +/- 0.1 weeks in androgenized males. By contrast, control females remained hypersensitive much longer as evidenced by the delay in the LH rise until 27.2 +/- 0.8 weeks. The response of the five androgenized females was intermediate; LH increased at 4, 7, 16, 20, and 21 weeks of age with an early increase of LH being associated with more pronounced masculinization of the genitalia. Patterns of pulsatile LH secretion reflected differences in serum LH measured from biweekly blood samples. For example, at 20 weeks of age

  16. Sonographic Growth Charts for Kidney Length in Normal Korean Children: a Prospective Observational Study

    PubMed Central

    2016-01-01

    Kidney length is the most useful parameter for clinical measurement of kidney size, and is useful to distinguish acute kidney injury from chronic kidney disease. In this prospective observational study of 437 normal children aged between 0 and < 13 years, kidney length was measured using sonography. There were good correlations between kidney length and somatic values, including age, weight, height, and body surface area. The rapid growth of height during the first 2 years of life was intimately associated with a similar increase in kidney length, suggesting that height should be considered an important factor correlating with kidney length. Based on our findings, the following regression equation for the reference values of bilateral kidney length for Korean children was obtained: kidney length of the right kidney (cm) = 0.051 × height (cm) + 2.102; kidney length of the left kidney (cm) = 0.051 × height (cm) + 2.280. This equation may aid in the diagnosis of various kidney disorders. PMID:27366007

  17. Renal medullary carcinoma: sonographic, computed tomography, magnetic resonance and angiographic findings.

    PubMed

    Khan, A; Thomas, N; Costello, B; Jobling, L; deKretser, D; Broadfield, E; O'Shea, S

    2000-07-01

    Renal medullary carcinoma is a recently described, highly aggressive tumour, occurring predominantly in young patients of African descent with sickle cell trait (SCT). All have been metastatic at surgery. Surgery, radiotherapy and chemotherapy do not appear to alter the course of the disease. The survival time is very short. Presentation is usually with haematuria, abdominal pain and weight loss. Forty-nine patients have been reported from the USA, of these 47 were African/Americans. The reports have mostly appeared in pathology journals. On review of the imaging findings reported in the radiological journals, it becomes apparent that it is possible for a radiologist to suggest a specific diagnosis in the appropriate demographic and clinical setting. Here the first British patient of Afro-Caribbean decent in whom a pre-operative diagnosis was suggested on the imaging findings of a centrally located renal pelvic tumour, encasing the pelvis on a background of SCT in a 28-year-old is described. It is expected that a high index of suspicion in the appropriate clinical setting may lead to earlier diagnosis, treatment and survival of patients. The patient is alive and reasonably well 9 months after surgery. The full range of imaging findings in renal medullary carcinoma are described.

  18. Three-dimensional sonographic examination of the midbrain for computer-aided diagnosis of movement disorders.

    PubMed

    Plate, Annika; Ahmadi, Seyed-Ahmad; Pauly, Olivier; Klein, Tassilo; Navab, Nassir; Bötzel, Kai

    2012-12-01

    We present a novel approach to transcranial B-mode sonography for Parkinson's disease (PD) diagnosis by using 3-D ultrasound (3-DUS). We reconstructed bilateral 3-DUS volumes of the midbrain and substantia nigra echogenicities (SNE) and report results of a more objective abnormality detection in (PD). For classification, we analyzed volumetric measurements of midbrain and SNE in subjects with PD and healthy controls (HC). After blinded segmentation of these structures in 22/23 subjects (11 PD, 11 HC) and by two observers with varying prior experience in this technique, the classification algorithm yielded up to 91% sensitivity and 64% specificity using the larger volume of both SNE as a single-dimensional features and up to 90.9% sensitivity and 72.7% specificity using a multidimensional feature set with midbrain and both SNE volumes. This pilot study indicates that our TC-3-D-US approach is technically feasible and less dependent on the investigator's experience and good bone windows. Our pilot study yielded a fairly high sensitivity and specificity in differentiating between subjects with PD and HC.

  19. Descriptive epidemiology of prenatal and perinatal risk factors in a Chinese population with reading disorder

    PubMed Central

    Liu, Lingfei; Wang, Jia; Shao, Shanshan; Luo, Xiu; Kong, Rui; Zhang, Xiaohui; Song, Ranran

    2016-01-01

    Several prenatal and perinatal factors have been found to be associated with developmental dyslexia (reading disorder) in alphabetic language. Given the absence of relevant studies of Chinese children, the present study tries to investigate these risk factors. A total of 45,850 students were recruited from grades three to six, from seven cities of Hubei province. Dyslexia in Chinese was diagnosed based on children’s clinical symptoms. The clinical symptoms of children’s reading performance were assessed by Dyslexia Checklist for Chinese Children (DCCC) and Pupil Rating Scale Revised Screening for Learning Disabilities (PRS) which were completed by parent/guardian and header teacher respectively. Chinese language exam was used to screen children with poor reading capacity. Questionnaires about prenatal and perinatal factors were completed by parent or guardian. Among the 34,748 eligible participants, 1,200 (3.45%) were diagnosed with dyslexia in Chinese. More boys suffered from dyslexia than the girls and the gender ratio was 3:1. Family history of neuropsychiatric diseases, maternal infectious diseases, difficult vaginal delivery, preterm birth, and neonatal asphyxia were found to increase the risk of developmental dyslexia in China. Closer longitudinal developmental monitoring and preventive measures should be taken for high risk children. PMID:27819320

  20. Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands.

    PubMed

    Dommering, Charlotte J; Henneman, Lidewij; van der Hout, Annemarie H; Jonker, Marianne A; Tops, Carli M J; van den Ouweland, Ans M W; van der Luijt, Rob B; Mensenkamp, Arjen R; Hogervorst, Frans B L; Redeker, Egbert J W; de Die-Smulders, Christine E M; Moll, Annette C; Meijers-Heijboer, Hanne

    2017-04-01

    Since the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes may opt for prenatal diagnoses (PND). We studied the uptake of prenatal diagnosis for five hereditary cancer syndromes in the Netherlands. Uptake for retinoblastoma (Rb) was compared with uptake for Von Hippel-Lindau disease (VHL), Li-Fraumeni syndrome (LFS), familial adenomatous polyposis (FAP), and hereditary breast ovarian cancer (HBOC). A questionnaire was completed by all nine DNA-diagnostic laboratories assessing the number of independent mutation-positive families identified from the start of diagnostic testing until May 2013, and the number of PNDs performed for these syndromes within these families. Of 187 families with a known Rb-gene mutation, 22 had performed PND (11.8%), this was significantly higher than uptake for FAP (1.6%) and HBOC (<0.2%). For VHL (6.5%) and LFS (4.9%) the difference was not statistically significant. PND for Rb started 3 years after introduction of diagnostic DNA testing and remained stable over the years. For the other cancer syndromes PND started 10-15 years after the introduction and uptake for PND showed an increase after 2009. We conclude that uptake of PND for Rb was significantly higher than for FAP and HBOC, but not different from VHL and LFS. Early onset, high penetrance, lack of preventive surgery and perceived burden of disease may explain these differences.