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Sample records for prenatal sonographic diagnosis

  1. Prenatal sonographic diagnosis of ectopia cordis.

    PubMed

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

    1999-10-01

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

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

    PubMed

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

    2002-12-01

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

  3. Prenatal sonographic diagnosis of Aarskog syndrome.

    PubMed

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

    1999-10-01

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

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

    PubMed

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

    2000-01-01

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

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

    PubMed

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

    2017-09-01

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

  6. 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

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

    PubMed

    Law, K M; Tse, K T

    2008-08-01

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

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

    PubMed

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

    2017-09-01

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

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

    PubMed

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

    1999-11-26

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

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

    PubMed

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

    1996-10-01

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

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

    PubMed

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

    2009-01-01

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

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

    PubMed

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

    2014-12-01

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

  13. 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.

  14. 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.

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

    PubMed Central

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

    2016-01-01

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

  16. 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.

  17. Sonographic diagnosis of pneumothorax.

    PubMed

    Volpicelli, Giovanni

    2011-02-01

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

  18. 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.

  19. 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

  20. [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.

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

    PubMed

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

    2015-03-01

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

  2. 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

  3. 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.

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

    PubMed

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

    2017-08-01

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

  5. 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.

  6. Noninvasive prenatal diagnosis.

    PubMed

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

    2015-08-01

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

  7. 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

  8. 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.

  9. 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.

  10. 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

  11. 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.

  12. 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.

  13. Fetal sonographic diagnosis of aortic arch anomalies.

    PubMed

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

    2003-11-01

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

  14. Genetic Considerations in the Prenatal Diagnosis of Overgrowth Syndromes

    PubMed Central

    Vora, Neeta; Bianchi, Diana W.

    2015-01-01

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

  15. Prenatal diagnosis of hemimegalencephaly.

    PubMed

    Lang, Shih-Shan; Goldberg, Ethan; Zarnow, Deborah; Johnson, Mark P; Storm, Phillip B; Heuer, Gregory G

    2014-01-01

    In recent literature, there have been case reports of prenatal diagnosis of hemimegalencephaly, an extremely rare entity characterized by enlargement of all or portions of 1 cerebral hemisphere and intractable seizures. A unique case is presented of hemimegalencephaly of a fetus diagnosed in utero. A 27-year-old woman presented at 32 weeks' gestation for fetal magnetic resonance imaging after an abnormal fetal ultrasound. Fetal magnetic resonance imaging showed hemimegalencephaly of the left cerebral hemisphere with abnormal gyration. The patient was born via cesarean section at 39 weeks' gestation. He had continuous infantile spasms and partial-onset seizures starting on day 1 of life, and electroencephalography showed burst suppression. The patient's seizures were initially managed with antiepileptics, prednisolone, and a ketogenic diet; however, he was hospitalized multiple times because of status epilepticus. At 6 months of age, he underwent a successful anatomic left hemispherectomy. In utero diagnosis of complex developmental brain anomalies allows a multidisciplinary approach to provide optimal prenatal patient treatment and parental counseling. Copyright © 2014 Elsevier Inc. All rights reserved.

  16. [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.

  17. 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

  18. [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.

  19. Cystic Fibrosis: Prenatal Screening and Diagnosis

    MedlinePlus

    ... Management Education & Events Advocacy For Patients About ACOG Cystic Fibrosis: Prenatal Screening and Diagnosis Home For Patients Search ... Screening and Diagnosis FAQ171, June 2017 PDF Format Cystic Fibrosis: Prenatal Screening and Diagnosis Pregnancy What is cystic ...

  20. [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.

  1. [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.

  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. 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.

  4. Prenatal diagnosis of cloacal malformation.

    PubMed

    Peiro, Jose L; Scorletti, Federico; Sbragia, Lourenco

    2016-04-01

    Persistent cloaca malformation is the most severe type of anorectal and urogenital malformation. Decisions concerning the surgical treatment for this condition are taken during the first hours of life and may determine the quality of life of these patients. Thus, prenatal diagnosis becomes important for a prompt and efficient management of the fetus and newborn, and accurate counseling of the parents regarding its consequences and the future of the baby. Careful evaluation by ultrasonography, and further in-depth analysis with MRI, allow prenatal detection of characteristic findings, which can lead to diagnose or at least suspect this condition. We reviewed our experience and the literature in order to highlight the most important clues that can guide the physician in the differential diagnosis. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. 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.

  6. Pediatric prenatal diagnosis of congenital heart disease.

    PubMed

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

    2014-10-01

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

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

    PubMed Central

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

    2013-01-01

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

  8. [Sonographical diagnosis of pneumoretroperitoneum as a result of retroperitoneal perforation].

    PubMed

    Nürnberg, D; Mauch, M; Spengler, J; Holle, A; Pannwitz, H; Seitz, K

    2007-12-01

    A retroperitoneal perforation is a rare incident. It can occur as a complication of ERCP with papillotomy (0.2-0.5%). Leakage of contrast agent during endoscopy raises the suspicion that this complication has occurred but doesn't always give sufficient information about the leakage extent. In the case of extreme gas emission, a plain abdominal X-ray shows classic pneumoretroperitoneum. The abdominal CT scan can display small amounts of free air which is why it is used for diagnosis in such cases. Ultrasonography also provides a reliable diagnosis and is a good method for monitoring the progression of the condition. Alternative causes of pneumoretroperitoneum can be: trauma, inflammation, infection, tumor as well as ERCP and other interventional procedures, especially endoscopies. Presacral retroperitoneal pneumoradiography was used for the diagnosis of retroperitoneal tumors in the 70 s but is no longer used today. Perforations into the retroperitoneal space come from several locations in the gastrointestinal tract. In the different types of lesions the gas can penetrate the compartments and reach as far as the mediastinum, the intraabdominal cavity, subcutaneum (cervical) or the scrotal compartment (compartment shift). Based on 11 cases (7 perforations during ERCP, 2 perforation during colonoscopy, 2 cases with damage of the distal esophagus), we show the most extensive presentation of the sonographical picture of pneumoretroperitoneum. Typical signs on abdominal ultrasound are an increased echogenicity around the right kidney ("overcasted" or "covered" kidney), air dorsal to the gallbladder, around the duodenum and the head of the pancreas and especially ventral to the great abdominal vessel which can lead to the picture of "vanishing" vessels. The extent of free air is easy to assess. Even very small amounts are detectable ventral to the right kidney. In most cases, a conservative approach with no oral intake, antibiotic coverage, and analgesia in close

  9. Prenatal diagnosis of nonsyndromic congenital heart defects.

    PubMed

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

    2014-03-01

    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). We analyzed data from mothers with CHD-affected pregnancies from 1998 to 2005. Prenatal CHD diagnosis was defined as affirmative responses to questions about abnormal prenatal ultrasounds and fetal echocardiography obtained during a structured telephone interview. Fifteen percent (1097/7299) 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 preexisting hypertension. Prenatal CHD diagnosis varied by time to NBDPS interview and NBDPS study site. 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 fetal echocardiography may account for such variability. © 2013 John Wiley & Sons, Ltd.

  10. Hemimegalencephaly: prenatal diagnosis and outcome.

    PubMed

    Alvarez, Rosa María; García-Díaz, Lutgardo; Márquez, Javier; Fajardo, Manuel; Rivas, Eloy; García-Lozano, Juan Carlos; Antiñolo, Guillermo

    2011-01-01

    Hemimegalencephaly (HME) is a developmental abnormality of the central nervous system (CNS) which may present as either a syndromic or isolated case. Here, we present two cases of early prenatal diagnosis of HME. Prenatal CNS ultrasound and MRI in the first case revealed ventricular asymmetry, midline shift with displacement of the occipital lobe across the midline, large dilatation mainly at the posterior horn of the left lateral ventricle, and a head circumference in the 90th percentile without involvement of the brain stem and cerebellum, as well as abdominal lymphangioma. Right hemispherectomy was performed at 3 months of age due to intractable seizures. The pathological specimen showed findings characteristic of HME, including a disorganized cytoarchitecture with lack of neuronal lamination, focal areas of polymicrogyria, and neuronal heterotopias with dysplastic cells. In the second case, 2D and 3D neurosonography demonstrated similar findings (asymmetry of cerebral hemispheres, midline shift, and dilation of the posterior horn of the left lateral cerebral ventricle). Posterior fossa structures were unremarkable. HME was diagnosed and the pregnancy was terminated. Autopsy findings confirmed the diagnosis of HME. Copyright © 2011 S. Karger AG, Basel.

  11. 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. Copyright 2000 Harcourt Publishers Ltd.

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

    PubMed

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

    1990-12-01

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

  13. Prenatal diagnosis of genetic disorders.

    PubMed Central

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

    1976-01-01

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

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

    PubMed

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

    2002-01-01

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

  15. 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

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

    PubMed

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

    2000-08-01

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

  17. Prenatal diagnosis: essentials for the pediatric surgeon.

    PubMed

    Rice, H E; Adzick, N S

    1993-05-01

    Prenatal diagnosis is a rapidly growing field that has supported new treatments for the developing fetus. Improved methods of diagnosing anatomic, biochemical, and molecular defects of the fetus have fostered a parallel growth of better techniques of fetal therapy. A fundamental knowledge of the basic uses and limitation of prenatal diagnosis is essential for the practicing pediatric surgeon. This review summarizes clinical uses and recent advances in various methods of prenatal diagnosis, including ultrasound, fetal echocardiography, amniocentesis, chorionic villus sampling, fetal blood sampling, alpha-fetoprotein, and DNA analysis. For each technique, the common indications, risks, and clinical utility are discussed.

  18. Prenatal Diagnosis and Genetic Counseling

    PubMed Central

    Dumars, Kenneth W.; Dalrymple, Gisela T.; Murray, Allen K.

    1976-01-01

    Since the early 1960's knowledge regarding human genetics has increased at an exponential rate. Because genetics was not commonly taught in medical schools before the late 1960's, this review article is intended to acquaint physicians or refresh their knowledge regarding chromosomal, mendelian and multifactorial inheritance and the indications for prenatal diagnosis. Establishing an accurate diagnosis and mode of inheritance is essential in identifying and selecting those families at risk for genetic disease in their offspring. Medical genetics is evolving as a specialty in order to provide consultation and, if needed, management of those families who would benefit by genetic services. Families who would benefit from genetic counseling include, for example, those in whom any of the following conditions is present: known chromosomal disorders, known disorders due to mendelian inheritance, mental retardation of unknown origin, failure of sexual maturation or failure of sexual development, congenital malformations, floppy infant syndrome or leukemia. A list of more than 70 disorders now detectable in a fetus by means of amniocentesis provides a beginning in the prevention of genetic disease. Knowledge regarding these diseases allows a physician to provide families with accurate risk figures so that they may make informed decisions about having children. Also, a compassionate and nonjudgmental approach to counseling is essential. Decisions, in the final analysis, must be made by the family but aided and supported by the physician. ImagesFigure 4.Figure 5. PMID:1274337

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

    PubMed

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

    2013-05-01

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

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

    PubMed

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

    2006-01-01

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

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

    PubMed

    Sahinoglu, Zeki; Yapicier, Ozlem; Ozcan, Nahit

    2016-10-01

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

  2. Prenatal Diagnosis and Postnatal Outcome of Schizencephaly.

    PubMed

    Kutuk, Mehmet Serdar; Gorkem, Sureyya Burcu; Bayram, Ayse; Doganay, Selim; Canpolat, Mehmet; Basbug, Mustafa

    2015-09-01

    The aim of this study was to present our experience with 5 cases of fetal schizencephaly in terms of prenatal diagnostic features, and postnatal outcome. The database of prenatal diagnosis unit was searched for antenatally diagnosed cases with schizencephaly. Maternal characteristics, ultrasonography, prenatal-postnatal magnetic resonance imaging (MRI) findings, and postnatal outcome were noted. Of 5 cases, 2 had definitive prenatal diagnoses on ultrasound and 3 cases were diagnosed by fetal MRI. All cases had cerebral cortical migration anomalies including polymicrogyria, subependymal heterotopia, and lissencephaly, and 2 cases had additional extracranial malformations. Three cases showed regression of the cerebral clefts on follow-up postnatal MRIs. Three cases had moderate to severe psychomotor retardation, and 1 case needed repeated ventriculoperitoneal shunt operation due to hydrocephaly. Prenatal diagnosis of schizencephaly with ultrasonography is not straightforward and required further evaluation with fetal MRI. Additional cerebral anomalies worsen the prognosis of schizencephaly. © The Author(s) 2014.

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

    PubMed

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

    2013-10-01

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

  4. Prenatal diagnosis of imperforate hymen with hydrometrocolpos.

    PubMed

    Yildirim, Gokhan; Gungorduk, Kemal; Aslan, Halil; Sudolmus, Sinem; Ark, Cemal; Saygin, Sezin

    2008-11-01

    Imperforate hymen is one of the most simple and most common anomalies in the female genital organs, occurring in 0.1% of girls born at term. Some are recognized because of mucocolpos at birth, but the diagnosis is usually not detected before puberty. Rarely, obstetric sonography may prenatally detect imperforate hymen due to presentation of hydrocolpos or hydrometrocolpos in the fetus if fetal cervical and vaginal secretions accumulate in response to circulating maternal estrogens. Nonetheless, reports of prenatal ultrasound diagnosis of hydrometrocolpos are still very rare. In this article we report a prenatally diagnosed of imperforate hymen with hydrometrocolpos.

  5. 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.

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

    PubMed

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

    2016-02-01

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

  7. 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.

  8. Camptomelic dysplasia: prenatal diagnosis by ultrasound.

    PubMed

    Natasha, Gupta; Ghai, Rajeev; Shah, Dheeraj; Kiran, P S

    2006-09-01

    We report a case of camptomelic dysplasia, an extremely rare lethal congenital bony dysplasia with an incidence of about 2 per million live births. Diagnosis was made antenatally at a gestational age of about 25 weeks by sonographic demonstration of anterior bowing of long bones, hypoplastic scapulae, bilateral talipes equinovarus, and normally ossified unfractured ribs. The mother elected to terminate the pregnancy, and the diagnosis was confirmed on clinical and radiographic examination of the fetus. Radiological features and differential diagnoses of this entity are discussed.

  9. [Prenatal diagnosis of abdominal wall defects].

    PubMed

    El Mhabrech, H; Ben Hmida, H; Charfi, H; Zrig, A; Hafsa, C

    2017-09-07

    Anterior abdominal wall defects (AAWD) correspond to a wide spectrum of congenital defects affecting 6.3/10,000 pregnancies. They have in common a closure defect of the anterior abdominal wall and can be fatal or expose the fetus and the neonate (NN) to many complications. This study was based on a retrospective study of 22 cases of AAWD collected between May 2009 and December 2014. Its purpose was to specify the importance of prenatal ultrasonography in the diagnosis and prognosis assessment of these defects. These 22 AAWDs consisted in 13 cases of omphalocele (including four cases of Beckwith-Wiedemann syndrome), four of gastroschisis, one of pentalogy of Cantrell, three of vesical exstrophy and one of cloacal exstrophy. Prenatal ultrasonography provided the diagnosis of 14 of these defects with a changing sensitivity with the gestational age varying from 17% in the first trimester to 71.4% and 77.8% in the second and third trimesters, respectively. The relevance of this examination was improved when performed by an imaging specialist. The prenatal diagnosis of these defects indicated an amniocentesis in eight cases, allowing the diagnosis of two cases of trisomy 18. It also motivated a therapeutic termination of the pregnancy (TTP) in ten cases. Prenatal ultrasonography allowed better prenatal follow-up and planning of the delivery of the continued pregnancies. It indicated an emergency C-section in only one case by showing intestinal complications of gastroschisis. Four NNs died (two cases of omphalocele and two of gastroschisis), three of which postoperatively and the prenatal diagnosis did not improve survival. Prenatal ultrasonographic diagnosis provided a precise morphological study determining the type of the AAWD, a complete malformation assessment, and the prognosis factors. This resulted in adequate multidisciplinary pre and postnatal care, including a rigorous ultrasound follow-up, a TTP in case of associated defects, and emergency delivery once the

  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. 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.

  12. 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.

  13. Performance of prenatal diagnosis in esophageal atresia.

    PubMed

    Spaggiari, Emmanuel; Faure, Giuliana; Rousseau, Veronique; Sonigo, Pascale; Millischer-Bellaiche, Anne-Elodie; Kermorvant-Duchemin, Elsa; Muller, Francoise; Czerkiewicz, Isabelle; Ville, Yves; Salomon, Laurent J

    2015-09-01

    The aim of this study was to evaluate the performance of prenatal diagnosis of esophageal atresia (EA) and its associated abnormalities. We conducted a retrospective study from a pediatric database of EA managed postnatally in a single center. Prenatal data included ultrasound and magnetic resonance imaging parameters including amniotic fluid (AF) volume, stomach visualization, AF biochemistry, and associated malformations. Postnatal data included type of EA, mortality, and postnatal diagnosis of associated malformations. One hundred twenty-two cases were included. The diagnosis was suspected prenatally in 39/122 (32%) cases. Polyhydramnios was noted in 64/122 (52.4%), and the stomach was not visualized or small in 39 (32%). There was 14 (11.5%), 2 (1.6%), 101 (82.8%), 5 (4.1%), and 0 (0%) types I, II, III, IV, and V, respectively. EA was suspected prenatally in 12/14 (85.7%) in type I and in 27/108 (25%) in cases with tracheoesophageal fistula (II + III + IV + V). Magnetic resonance imaging was performed in 28 cases, which confirmed EA in 19/28 (sensitivity 67.8%). AF biochemistry was performed in 17 cases, which confirmed EA in 15/17 (sensitivity 88.2%) cases. Of the 69 syndromic associations, 41/69 (59.4%) cases were detected prenatally. Associated malformation was a strong predictor of postnatal death [19/69 vs 3/53, odds ratio 6.33 (1.76; 22.75), p < 0.01]. Prenatal diagnosis of EA remains challenging. MRI and AF biochemistry may prove useful in the diagnosis of EA. Prenatal ultrasound and MRI examination should also focus on associated anomalies. © 2015 John Wiley & Sons, Ltd. © 2015 John Wiley & Sons, Ltd.

  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 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.

  16. Improved diagnosis of breast implant rupture with sonographic findings and artificial neural networks.

    PubMed

    Venta, L A; Salchenberger, L M; Venta, E R

    1998-04-01

    The authors evaluated the use of sonographic findings combined with artificial neural networks as an aid to the diagnosis of breast implant rupture. From a database of 78 breast implants that were evaluated prospectively with sonography and then surgically removed, sonographic findings and surgical results were used to train and test backpropagation and radial basis function artificial neural networks by using the leave-one-out method. Receiver operating characteristic (ROC) curve analysis was used to compare the performance of the different neural networks with that of the radiologists involved. By using the ROC area index as a measure of performance, the artificial neural network (Az = 0.8744) outperformed the radiologists (Az = 0.8057), although not by a statistically significant difference (P = .09). The best-performing network used, in addition to the sonographic findings, the diagnosis of the radiologist as an input. This network (Az = 0.9245) outperformed both the radiologists and the "unaided" networks by a statistically significant margin (P = .02 for radiologists, P = .04 for the unaided network). The network performed remarkably well in those cases in which the radiologists classified the implant as indeterminate, predicting the correct diagnosis in 23 of 25 cases (92%). The results suggest that artificial neural networks in tandem with the unaided radiologic diagnosis can improve the accuracy rate in the detection of implant rupture based on sonographic findings. This "team" approach provided the best results.

  17. Improved standards for prenatal diagnosis of citrullinemia.

    PubMed

    Miller, Marcus J; Soler-Alfonso, Claudia R; Grund, Jaime E; Fang, Ping; Sun, Qin; Elsea, Sarah H; Sutton, V Reid

    2014-07-01

    Citrullinemia type I is a urea cycle disorder caused by autosomal recessive mutations in argininosuccinate synthetase 1 (ASS1). In the classical form of this disease, symptoms manifest during the neonatal period as progressive lethargy, poor feeding, and central nervous system depression secondary to hyperammonemia. In pregnancies involving two carrier parents, prenatal diagnosis is important for both reproductive decisions and advanced preparation for neonatal care. The current gold standard for prenatal diagnosis has been the citrulline incorporation assay in addition to DNA mutation analysis. Herein, we review our experience with prenatal diagnosis of citrullinemia type I over the span of 11 years in 41 at-risk pregnancies. During this time, we identified 15 affected fetuses using a combination of molecular and biochemical testing. Given the established limitations of both the citrulline incorporation assay as well DNA mutation analysis, we probed our data to assess the value of amniotic fluid amino acid levels in prenatal diagnosis. Previous publications have proposed using the amniotic fluid ratio of citrulline/(arginine+ornithine) in prenatal diagnosis; however, we noted that amniotic fluid arginine levels were normal in our cohort and hypothesized that the amniotic fluid citrulline/ornithine ratio may be superior. Indeed, our analyses revealed that the ratio of amniotic fluid citrulline/ornithine alone correctly distinguished affected from unaffected fetuses in all cases. During the establishment of a normal reference range we discovered significant elevations in amniotic fluid citrulline levels in at-risk pregnancies compared to the normal population even when the fetus was unaffected. This highlights the importance of using amniotic fluid from carrier mothers when setting up a normal reference range. Finally, we report our experience as one of the first centers to adopt Sanger sequencing for prospective prenatal diagnosis of citrullinemia. While this is

  18. [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.

  19. 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.

  20. 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

  1. 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.

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

    PubMed

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

    2015-04-01

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

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

    PubMed

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

    2000-12-01

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

  4. [Association between sonographic findings and histological diagnosis of 446 ovarian tumors].

    PubMed

    Franzin, Cleide Mara Mazzotti de Oliveira; Marussi, Emílio Francisco; Zeferino, Luiz Cralos; Sarian, Luís Otávio Zanatta; Prada, Mariana Fonseca

    2006-01-01

    The objective was to analyze the correlations between the sonographic features of the ovarian masses and the histological diagnosis. A retrospective study which involved 404 female subjects who had developed 446 ovarian masses was carried out. Patients who had been submitted to surgery due to uni or bilateral ovarian tumors were included and those presenting with an ectopic pregnancy or pelvic inflammatory process were excluded. Data from the patients' medical charts provided the information needed for a detailed study of the following variables: larger diameter, external borders and texture of the sonographic masses. This collected data was correlated to post surgery pathology diagnoses. The magnitude of the associations between pathology diagnoses and sonographic morphologic findings where estimated by the Odds Ratio with its respective confidence intervals of 95%. In their majority, masses were benign tumors (88.1%). Malign masses corresponded to 9.4 % of the total and only 2.5% were borderline. Patients' ages ranged from 13 to 63 years (with an average of 39.1). Regarding the irregular and poorly delimited borders of the masses, the odds ratio for malignancy was of 17.8. After analyses of the sonographic texture the odds ratio of complex texture masses proved to be extremely high (38.6). The anechoic masses with thickened septa had an odds ratio of 35.6, while that of the solid masses was of 15.5. Sonographic analyses of adnexal tumors having more than 7 cm of diameter, irregular and poorly delimited external borders, presenting complex or anechoic textures with thickened septa or solid mass are highly suggestive of malignancy.

  5. [Prenatal gene diagnosis of alpha-thalassemias].

    PubMed

    Zhang, X; Li, Q; Wu, Y

    1998-03-01

    To study the value of polymerase chain reaction (PCR) in prenatal diagnosis of alpha thalassemias. Amniotic fluid prenatal gene diagnosis with polymerase chain reaction was carried out on eleven fetuses whose parents are both heterozygotes with alpha-globin gene deficiency. A DNA fragment of 224bp in the production means normal alpha-globin gene sequence, while a 630bp fragment indicated the alpha-globin gene deficiency. Both 224bp and 630bp fragments in the same sample means heterozygote. Three of the 11 fetuses (one pregnancy was twin) were with normal alpha-globin gene sequence, while 4 were homozygotes and the other 4 were heterozygotes. For the 3 fetuses with ascitic fluid under ultrasound examination, 2 were homozygotes and the other one was heterozygote by gene diagnosis. Two of the 4 homozygotes from induced abortion were typical Bart's syndrome, one was edema in the whole body and the other one with short limbs and abdominal hernia. The method of PCR in prenatal diagnoses for detection of alpha-thalassemias is simple, accurate and rapid.

  6. Sonographic diagnosis of Fournier's gangrene: a rare surgical emergency.

    PubMed

    Chu, Wai Pong

    2012-07-01

    Early diagnosis of life-threatening Fournier's gangrene, a rare surgical emergency, is essential. Detection of gas within the swollen scrotal skin by ultrasonography (US) is of great help in patients with equivocal physical examination findings.

  7. 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

  8. Chromosomal microarray versus karyotyping for prenatal diagnosis.

    PubMed

    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

    2012-12-06

    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. 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. 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. 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.).

  9. Prenatal diagnosis of truncus arteriosus using multiplanar display in 4D ultrasonography

    PubMed Central

    Gotsch, Francesca; Romero, Roberto; Espinoza, Jimmy; Kusanovic, Juan Pedro; Erez, Offer; Hassan, Sonia; Yeo, Lami

    2012-01-01

    Prenatal diagnosis of truncus arteriosus with two-dimensional (2D) sonography requires expertise in fetal echocardiography. Indeed, truncus arteriosus shares with tetralogy of Fallot and pulmonary atresia with a ventricular septal defect (VSD) the sonographic finding of a single arterial trunk overriding a VSD. The diagnosis of truncus arteriosus can be confirmed when either the main pulmonary artery or its branches are visualized arising from the truncus itself. This requires sequential examination of multiple scanning planes and a process of mental reconstruction of their spatial relationships. The advantage of multiplanar imaging in three-dimensional and four-dimensional ultrasonography is that it allows for the simultaneous visualization of three orthogonal anatomic planes, which can be very important in diagnosing cardiac abnormalities. We report, first, a case of truncus arteriosus diagnosed in utero where the multiplanar display modality provided important insight into the differential diagnosis of this conotruncal anomaly, and then, review the diagnosis of truncus arteriosus on ultrasound. PMID:19900032

  10. Sonographic diagnosis of an acute Stener lesion: a case report.

    PubMed

    Mattox, Ross; Welk, Aaron B; Battaglia, Patrick J; Scali, Frank; Nunez, Mero; Kettner, Norman W

    2016-01-01

    This case report describes the use of diagnostic ultrasound to diagnose a Stener lesion in a patient who presented for conservative care of thumb pain following a fall on an outstretched hand. Conventional radiographic images demonstrated an avulsion fracture at the ulnar aspect of the base of the first proximal phalanx. Diagnostic ultrasound revealed a torn ulnar collateral ligament of the thumb that was displaced proximal to the adductor aponeurosis, consistent with a Stener lesion. Dynamic imaging with ultrasound confirmed displacement of the fully torn ligament. Surgical repair followed the diagnosis. Diagnostic ultrasound in this case provided an accurate diagnosis obviating further imaging. This allowed an optimal outcome due to early intervention.

  11. Prenatal diagnosis of ectopia cordis: case report.

    PubMed

    Chelli, Dalenda; Dimassi, Kaouther; Jallouli-Bouzguenda, Souhir; Ebdellah, Essia; Hermi, Feten; Zouaoui, Bechir; Sfar, Ezzeddine; Kitova, Tania; Chelli, Hela; Channoufi, Mohamed Badis; Gaigi, Soumaya

    2008-02-01

    Ectopia cordis is a rare and impressive malformation presenting as an isolated lesion or as part of the Cantrell's pentology syndrom. It is defined as an anomaly in which the fetal heart lies outside the thoracic cavity. THE AIM of the study is to report the prenatal diagnostic features and management of ectopia cordis. We report a prenatal diagnosis case of ectopia cordis using two-dimensional ultrasound at 19 weeks of gestation. Multiple congenital anomalies were found. The most important one was the presence of a ventral thoracoabdominal wall defect with exstrophy of the heart, liver, stomach and intestines. Histopathological examination confirmed the ultrasound findings. Due to severity of the malformations, termination of pregnancy was made.

  12. Scintigraphic and sonographic diagnosis of neonatal mesoblastic nephroma: case report

    SciTech Connect

    Sacks, G.; Mitchell, M.; Fleischer, A.C.; Sandler, M.

    1983-06-01

    The morphologic characteristics of mesoblastic nephroma result in a scintigraphic appearance which distinguishes this benign neonatal tumor from Wilms' tumor. This case report describes a patient in whom the use of scintigraphy and real-time sonography permitted preoperative diagnosis of mesoblastic nephroma.

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

    PubMed

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

    2015-02-01

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

  14. Early diagnosis and treatment of DDH: a sonographic approach.

    PubMed

    De Pellegrin, M; Moharamzadeh, D; Fraschini, G

    2007-01-01

    This study reviews the data regarding clinical and ultrasound (US) examinations, collected during an 11-year period, in a DDH dedicated outpatient clinic. The material was analysed in order to verify the importance of US hip examination and Ortolani's test for early DDH diagnosis, to select dysplastic, unstable hips, to identify the role of the labrum in DDH, and to analyse the treatment strategy. Of the 21709 newborns (43418 hips) examined with US and Ortolani's manoeuvre for DDH diagnosis, 431 patients (356 F; 75 M; average age 42+/-33 days) had 574 unstable, dysplastic hips (1.32%). The hips identified according to Graf's classification were: 298 type D, 252 type IIIa, 4 type IIIb, 20 type IV. In 73.09% of the patients, no risk factors were identified; 18.56% had positive family history for DDH, 5.57% had breech presentation, 2.78% had both risk factors. Only 10.63% had a positive Ortolani's test. The diagnosis was made in 21.5% of cases by the 2nd week of life, in 52.9% between the 2nd-8th week, and in 25.5% after the 8th week. Unstable dislocated hips were treated, after reduction with or without sedation, by applying a cast; dysplastic hips were treated using a Gekeler splint. No open reductions or reconstruction surgery were needed. The labrum was always positioned on top of the femoral head, never inverted, and it was not an obstacle to closed reduction. Neither the Ortolani's sign, nor the risk factors are sure signs for the early diagnosis of DDH and its instability. Only US examination permits an early diagnosis of dysplasia and instability of the hip.

  15. 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.

  16. [Prenatal diagnosis of X-linked adrenoleukodystrophy].

    PubMed

    Bao, Xin-hua; Ping, Li-li; Wang, Ai-hua; Pan, Hong; Wu, Ye; Xiong, Hui; Zhang, Yue-hua; Shi, Chun-yan; Qin, Jiong; Wu, Xiru

    2007-02-01

    To make prenatal dignosis of X-linked adrenoleukodystrophy (ALD) for the prevention of the disease. Eighteen amniocenteses were performed on 17 suspected carriers of X-ALD during 18-30 gestation weeks. The very long chain fatty acids (VLCFAs) levels of cultured amniocytes were tested by gas chromatography-mass spectrometry (GC/MS). The plasma VLCFAs levels were measured in 8 of the 18 prenatal diagnosed children when they were born or after abortion. ABCD1 gene mutation analysis was carried out in 8 cases by PCR and sequencing. ALDP of amniocytes was tested by Western blotting in 2 cases from a family, one female, another male, and the VLCFAs of cultured amniocytes were increased in both of them. Among the 18 fetuses, 10 were males and 8 were females. The VLCFAs levels of the cultured amniocytes were increased in 3 males and 4 females. The postnatal plasma VLCFAs were normal in 5 cases with normal VLCFAs levels of amniocytes, and increased in 3 cases with high VLCFAs levels of amniocytes. ABCD1 gene mutations were found in 4 cases with high VLCFAs levels of amniocytes, no mutation was found in other 4 cases with normal VLCFAs levels of amniocytes. ALDP of amniocytes could be detected in the female with high VLCFAs levels of amniocytes, and it could not be detected in the male with high VLCFAs levels of amniocytes. Three male fetuses with high VLCFAs levels of amniocytes were aborted. The others who were born were normal clinically so far. The prenatal diagnosis is very important for the prevention of ALD. Amniocyte VLCFAs level analysis combined with ABCD1 gene mutation analysis and ALDP test could make a proper prenatal diagnosis.

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

    PubMed

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

    2014-08-10

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

  18. [Rapid genetic prenatal diagnosis for achondroplasia].

    PubMed

    Zhu, Hai-Yan; Yang, Ying; Li, Jie; Ru, Tong; Hu, Ya-Li

    2008-11-01

    To explore the genetic prenatal diagnosis method for achondroplasia (ACH). During May to November 2007, three ACH pedigrees were diagnosed at the Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital of Medical College, Nanjing University. In family 1, there was a 6-month-old male ACH infant. In family 2, the expectant mother, with 18 weeks of pregnancy, was an ACH patient. Amniocentesis was performed for prenatal diagnosis. The fetus of family 3 was diagnosed as ACH by ultrasound examination on the 39th week of gestation. Umbilical cord blood of this fetus was collected for examination. Totally, three methods, restriction enzyme (SfcI and MspI) digestion analysis, denaturing high performance liquid chromatography (DHPLC) and sequencing analysis were performed simultaneously to detect the pathogenic mutation of fibroblastic growth factor receptor 3 (FGFR3) for the three ACH families. (1) The DHPLC detection: heteroduplex was detected in the patient of family 1; both the patient and the fetus of family 2 showed heteroduplex results; the result of the fetus of family 3 was also heteroduplex. (2) The enzyme digestion analysis for the PCR products of 10 exon of FGFR3: after SfcI digestion, the PCR products of patients and the fetus of family 1 and 2 showed not only the band of 247 bp, but also bands of 162 bp and 85 bp. But their PCR products could not be digested by MspI, and it only showed the band of 247 bp. For the fetus of family 3, the PCR products could not be digested by SfcI, while after digestion by MspI, bands of 162 bp and 85 bp were shown up. The PCR products of the normal control could be digested by neither SfcI nor MspI. (3) The sequencing results: the heterozygote mutation of 1138 G-->A was confirmed in the patient of family 1. The pregnant woman and her fetus in family 2 showed the same result. The heterozygote mutation of G-->C was confirmed in the fetus of family 3. The site of 1138 was G homozygote in

  19. Prenatal Diagnosis of Congenital Heart Disease and Birth Outcomes

    PubMed Central

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

    2013-01-01

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

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

    PubMed

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

    2009-01-01

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

  1. [Prenatal diagnosis and management of fetal megacystis].

    PubMed

    El Fekih, Chiraz; Ouerdiane, Nadia; Mourali, Mechaal; Oueslati, Seddik; Oueslati, Boujemaa; Binous, Naoufel; Chaabène, Mounira; Ben Zineb, Nabil

    2009-12-01

    Prenatal diagnosis of fetal megacystis particularly in the first trimester requires assessement of pronostic and aetiologycal criteria. Report a new case. we report a case of severe megacystis in female fetus diagnosed at 23 weeks of gestation. There are no other associated ultrasound findings. Fetal karyotyping was normal (46XX). Termination of pregnancy for medical indications was realised because of progressive enlargement of the fetal bladder. Post-mortem examination shown megacystis-microcolon-intestinal hypoperistalsis syndrome. Fetal megacystis is a severe condition when diagnosed early in pregnancy. Ultrasonography follow-up and fetal karyotyping are important to evaluate prognosis.

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

    PubMed

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

    2017-02-09

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

  3. Prenatal Diagnosis 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

  4. The Value of Prenatal Ultrasonographic Diagnosis of Diastematomyelia.

    PubMed

    Wei, Qiuju; Cai, Ailu; Wang, Xintian; Wang, Xiaoguang; Xie, Limei

    2017-06-01

    To evaluate the value of prenatal ultrasonographic diagnosis of diastematomyelia, and to provide a basis for the diagnosis and differential diagnosis of fetal diastematomyelia. Four fetuses with suspected diastematomyelia based on prenatal ultrasonography are presented. Detailed prenatal ultrasonography was performed to examine spinal cord abnormalities. The region of interest-based spine sagittal plane was defined and 3D volumetric scans were performed, as needed. Images were stored and compared with MRI or ultrasonographic images after abortion. In the four cases of diastematomyelia diagnosed by prenatal ultrasonography, two were confirmed by MRI after birth, and the other two were confirmed by autopsy and pathologic examination after abortion. Varying degrees of spine or spinal cord deformities were noted. Two pregnancies were terminated, and two newborns underwent surgery. Prenatal ultrasonography contributes to the diagnosis of diastematomyelia and provides a basis for prenatal counseling and prognosis. © 2017 by the American Institute of Ultrasound in Medicine.

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

    PubMed

    Phadke, Shubha R; Gupta, Ashutosh

    2010-06-01

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

  6. Ethical challenges in providing noninvasive prenatal diagnosis.

    PubMed

    Benn, Peter A; Chapman, Audrey R

    2010-04-01

    Noninvasive prenatal diagnosis (NIPD) can potentially allow early detection of fetal genetic disorders, sex, other nonmedical traits, and paternity. We review ethical concerns associated with the imminent introduction of this testing. There has been inadequate scientific and medical review of some NIPD tests under development or already available as direct-to-consumer products. Test introduction is largely unregulated and this has prompted calls for greater oversight. As a replacement for current prenatal screening and diagnosis, NIPD may not necessarily identify the same spectrum of disorders. Ethicists are also concerned how women can receive adequate pretest counseling and provide a truly informed consent. Widespread use of NIPD for minor disorders, predispositions, sex, normal human variation and paternity could result in a trivialization of pregnancy termination. Other concerns include the equitable access to testing by all population subgroups. NIPD has the potential to significantly reduce the prevalence of some genetic disorders and thereby change public attitudes about the handicapped and their families. Striking the correct balance between providing only worthwhile testing and ensuring individual patients' reproductive choice will be a major challenge and it is important to begin to address the many ethical issues that NIPD raises.

  7. 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.

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

    PubMed

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

    2015-01-01

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

  9. Efficiency of prenatal diagnosis in Pierre Robin sequence.

    PubMed

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

    2017-09-26

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

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

    PubMed

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

    2017-09-01

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

  11. Clinical Effectiveness of Prospectively Reported Sonographic Twinkling Artifact for the Diagnosis of Renal Calculus in Patients Without Known Urolithiasis.

    PubMed

    Masch, William R; Cohan, Richard H; Ellis, James H; Dillman, Jonathan R; Rubin, Jonathan M; Davenport, Matthew S

    2016-02-01

    The purpose of this study was to determine the clinical effectiveness of prospectively reported sonographic twinkling artifact for the diagnosis of renal calculus in patients without known urolithiasis. All ultrasound reports finalized in one health system from June 15, 2011, to June 14, 2014, that contained the words "twinkle" or "twinkling" in reference to suspected renal calculus were identified. Patients with known urolithiasis or lack of a suitable reference standard (unenhanced abdominal CT with ≤ 2.5-mm slice thickness performed ≤ 30 days after ultrasound) were excluded. The sensitivity, specificity, and positive likelihood ratio of sonographic twinkling artifact for the diagnosis of renal calculus were calculated by renal unit and stratified by two additional diagnostic features for calcification (echogenic focus, posterior acoustic shadowing). Eighty-five patients formed the study population. Isolated sonographic twinkling artifact had sensitivity of 0.78 (82/105), specificity of 0.40 (26/65), and a positive likelihood ratio of 1.30 for the diagnosis of renal calculus. Specificity and positive likelihood ratio improved and sensitivity declined when the following additional diagnostic features were present: sonographic twinkling artifact and echogenic focus (sensitivity, 0.61 [64/105]; specificity, 0.65 [42/65]; positive likelihood ratio, 1.72); sonographic twinkling artifact and posterior acoustic shadowing (sensitivity, 0.31 [33/105]; specificity, 0.95 [62/65]; positive likelihood ratio, 6.81); all three features (sensitivity, 0.31 [33/105]; specificity, 0.95 [62/65]; positive likelihood ratio, 6.81). Isolated sonographic twinkling artifact has a high false-positive rate (60%) for the diagnosis of renal calculus in patients without known urolithiasis.

  12. Prenatal diagnosis and genetic analysis of double trisomy 48,XXX,+18.

    PubMed

    Chen, C P; Chern, S R; Yeh, L F; Chen, W L; Chen, L F; Wang, W

    2000-09-01

    Prenatal diagnosis of simultaneous occurrence of double trisomy involving chromosomes 18 and X is extremely rare. We report on the prenatal diagnosis, genetic analysis and clinical manifestations of a fetus with both trisomy 18 and trisomy X. A 26-year-old, para 1 woman was referred for genetic counselling at 36 weeks' gestation with the sonographic findings of intrauterine growth retardation (IUGR), polyhydramnios, ventricular septal defect, and an enlarged cisterna magna. Both cordocentesis and amniocentesis revealed a consistent karyotype of 48,XXX,+18. Quantitative fluorescent polymerase chain reaction using polymorphic small tandem repeat markers specific for chromosomes 18 and X rapidly determined that both aneuploidies arose as a result of non-disjunction in maternal meiosis II. Our case shows that two non-disjunction events can occur not only in the same parent, but also in the same cell division. Our case also shows that double trisomy, 48,XXX,+18, can demonstrate an enlarged cisterna magna, IUGR and polyhydramnios in prenatal ultrasound. Copyright 2000 John Wiley & Sons, Ltd.

  13. 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.

  14. Prenatal diagnosis of osteochondrodysplasias in high risk pregnancy.

    PubMed

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

    1996-05-03

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

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

    PubMed

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

    2002-12-01

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

  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. Citrullinemia: prenatal diagnosis of an affected fetus.

    PubMed Central

    Fleisher, L D; Harris, C J; Mitchell, D A; Nadler, H L

    1983-01-01

    We monitored a pregnancy in a family at risk for citrullinemia due to argininosuccinic acid (ASA) synthetase deficiency. ASA synthetase activity in cultured epithelioid amniotic fluid cells from the fetus at risk was less than 2% of control epithelioid amniotic fluid cell activity. An increased concentration of citrulline was found in the at-risk amniotic fluid (0.14 mumol/ml) as compared with fluid from six controls and one at-risk but unaffected pregnancy (trace). The pregnancy was terminated, and the in utero diagnosis was confirmed by assay of ASA synthetase activity in cultured fetal skin fibroblasts (4.4% of control activity). In addition, all five fetal tissues studied had significant accumulation of citrulline, whereas control fetal tissues had none. These data provide evidence that, if precise control is maintained over tissue culture variables, citrullinemia can be diagnosed successfully in utero by microassay of ASA synthetase activity in cultured amniotic fluid cells. They also suggest that amniotic fluid citrulline concentrations provide strong adjunctive evidence for this prenatal diagnosis. PMID:6823975

  18. Neonatal periventricular leukomalacia: real-time sonographic diagnosis with CT correlation

    SciTech Connect

    Chow, P.P.; Horgan, J.G.; Taylor, K.J.W.

    1985-07-01

    The utility of real-time sonography in the diagnosis of neonatal periventricular leukomalacia (PVL) has been described only recently. Six cases are reported of PVL diagnosed by serial real-time scanning. The sonographic findings were correlated with the computed tomographic findings and the clinical history. In five of six infants in whom scanning was performed, characteristic multiseptated periventricular cavitations developed 2-3 weeks after birth or later. A transition from normal to increased periventricular echogenicity was often observed before the development of the periventricular cavitations in nonhemorrhagic PVL. The parenchymal abnormality demonstrated by sonography correlated well with an abnormal neurologic outcome. It is suggested that serial real-time scanning be performed in neonates whose history suggests the possibility of hypoxic-ischemic brain injury. Nonspecific predictors of PVL include seizures, apnea, disturbed mental status, abnormal muscle tone, and leg weakness.

  19. [Prenatal diagnosis of neural tube defects: Correlation between prenatal and postnatal data].

    PubMed

    Matuszewski, L; Perdriolle-Galet, E; Clerc-Urmès, I; Bach-Segura, P; Klein, O; Masutti, J P; Morel, O

    2017-03-01

    Neural tube defects (NTD) are congenital anomalies that can cause significant neurological long-term disabilities. Theses malformations are accessible to prenatal diagnosis and quite recently, to in utero repair for some myelomeningoceles. The aim of this study was to analyse the correlation between prenatal and postnatal examinations. A descriptive retrospective monocentric study has been conducted between January 2004 and December 2014 in a tertiary care maternity. All patients who benefited a prenatal diagnosis of NTD for their foetus, and for whom postnatal data were available were included. Prenatal and postnatal data, especially type of dysraphism, levels of defect and extent, and associated anomalies were compared. Sixty spinal dysraphisms were diagnosed antenataly. Concerning the type of dysraphism, ultrasound diagnosis was well correlated with postnatal findings (ρ=0.7048). Prenatal level and extent were correlated with postnatal data (respectively ρ=0.539 and ρ=0.562). Vertebral upper level defined by ultrasound agreed with postnatal constatations in 80.8% of cases within one vertebra, and in 84.6% of cases within two vertebras. Concerning indirect signs of spina bifida, prenatal data agreed with postnatal ones for most of them, especially for Arnold Chiari II malformation. There is a high correlation between prenatal and postnatal data. Prenatal ultrasound seems to be efficient for description of neural tube defects and to identify foetuses for which the benefit of in utero surgery exists. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  20. Prenatal diagnosis of inverted duplication deletion 8p syndrome mimicking trisomy 18.

    PubMed

    Akkurt, Mehmet Ozgur; Higgs, Amanda; Turan, Ozerk T; Turan, Ozhan M; Turan, Sifa

    2017-03-01

    Inverted duplication deletion of 8p (invdupdel[8p]) is a well-described and uncommon chromosomal rearrangement. The majority of the reported cases have revealed no life-threatening malformations. Although the invdupdel[8p] syndrome in children with central nervous system abnormalities has been reported before, we present the first prenatal microarray diagnosis of invdupdel[8p] syndrome mimicking trisomy 18 due to similar sonographic features. Contrary to reported cases with invdupdel[8p] syndrome, the present case had severe polyvalvular dysplasia and the infant deceased at day 12 of life. In this case, we also emphasize the diagnostic power of microarray analysis in detecting the underlying genetic causes for fetuses with multiple congenital anomalies. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  1. Prenatal diagnosis of caudal dysplasia sequence associated with undiagnosed type I diabetes

    PubMed Central

    Palacios-Marqués, Ana; Oliver, Cecilia; Martín-Bayón, Tina; Martinez-Escoriza, Juan Carlos

    2013-01-01

    Caudal regression or caudal dysplasia sequence (CDS) is a rare congenital malformation, which includes a wide spectrum of musculoskeletal abnormalities involving the lumbosacral spine, pelvis and lower limbs. It can be associated to visceral defects in various degrees. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. Women with diabetes who are dependent on insulin are 200–400 times more likely to have a child with caudal regression, making CDS the most characteristic fetal abnormality of diabetic embryopathy. Prenatal diagnosis is possible by ultrasonographic examination. The sonographic findings include abrupt interruption of the lumbar spine and ‘Buddha or frog position’ of the lower limbs. MRI has demonstrated the level of the vertebral anomalies as well as the associated abnormalities and this is crucial because the prognosis of this condition depends on the severity of the lesion and the presence of associated disorders. PMID:23737573

  2. Diagnosis of intussusception by physician novice sonographers in the emergency department.

    PubMed

    Riera, Antonio; Hsiao, Allen L; Langhan, Melissa L; Goodman, T Rob; Chen, Lei

    2012-09-01

    We investigate the performance characteristics of bedside emergency department (ED) ultrasonography by nonradiologist physician sonographers in the diagnosis of ileocolic intussusception in children. This was a prospective, observational study conducted in a pediatric ED of an urban tertiary care children's hospital. Pediatric emergency physicians with no experience in bowel ultrasonography underwent a focused 1-hour training session conducted by a pediatric radiologist. The session included a didactic component on sonographic appearances of ileocolic intussusception, review of images with positive and negative results for intussusceptions, and a hands-on component with a live child model. On completion of the training, a prospective convenience sample study was performed. Children were enrolled if they were to undergo diagnostic radiology ultrasonography for suspected intussusception. Bedside ultrasonography by trained pediatric emergency physicians was performed and interpreted as either positive or negative for ileocolic intussusception. Ultrasonographic studies were then performed by diagnostic radiologists, and their results were used as the reference standard. Test characteristics (sensitivity, specificity, positive and negative predictive values) and likelihood ratios were calculated. Six pediatric emergency physicians completed the training and performed the bedside studies. Eighty-two patients were enrolled. The median age was 25 months (range 3 to 127 months). Thirteen patients (16%) received a diagnosis of ileocolic intussusception by diagnostic radiology. Bedside ultrasonography had a sensitivity of 85% (95% confidence interval [CI] 54% to 97%), specificity of 97% (95% CI 89% to 99%), positive predictive value of 85% (95% CI 54% to 97%), and negative predictive value of 97% (95% CI 89% to 99%). A positive bedside ultrasonographic result had a likelihood ratio of 29 (95% CI 7.3 to 117), and a negative bedside ultrasonographic result had a likelihood

  3. First trimester prenatal diagnosis: earlier is not necessarily better.

    PubMed

    Boss, J A

    1994-09-01

    In the past few years considerable attention has been given to a relatively new method of prenatal diagnosis known as chorionic villus sampling (CVS). Because CVS can be performed in the first trimester it is hailed by many as a significant advance over amniocentesis. What has not been as publicized, however, are the disadvantages of CVS and earlier prenatal diagnosis. The emotional costs of CVS in terms of the greater number of both spontaneous and selective abortions following CVS, the use of CVS for sex selection and, because of the greater social acceptability of first trimester abortion, the possibility of increased pressure on women to undergo prenatal diagnosis by health insurance companies, medical professionals and government agencies, all need to be weighed against the advantages of early prenatal diagnosis.

  4. 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.

  5. Prenatal diagnosis of intra-abdominal cystic lesions by fetal ultrasonography: diagnostic agreement between prenatal and postnatal diagnosis.

    PubMed

    Marchitelli, Giulia; Stirnemann, Julien; Acanfora, Marta Maddalena; Rousseau, Veronique; Salomon, Laurent J; Ville, Yves

    2015-09-01

    The aim of this study was to assess the diagnostic agreement between the prenatal diagnosis of intra-abdominal cystic lesions made by ultrasound examination and the postnatal diagnosis. We reviewed all consecutive cases referred for an anechoic abdominal cyst from 2009 to 2013. Prenatal ultrasound diagnosis was compared with postnatal diagnosis. Prenatal diagnosis was defined as 'correct' if a specific prenatal diagnosis or one of the possible diagnoses was confirmed postnatally, as 'not confirmed' if the postnatal examination revealed no abnormalities and as 'incorrect' if the postnatal diagnosis was different from those suggested prenatally. Seventy-three cases were included, and prenatal diagnoses were made at a median gestational age of 27 weeks (range: 13-36). Correct diagnoses were made in 66 cases (90.4%), including four in which the lesion resolved spontaneously in utero; two diagnoses were 'not confirmed' postnatally, and one was incorrect (a prenatal diagnosis of intestinal duplication was in fact an anorectal malformation). Postnatal diagnosis was not achieved in four cases: None of them required surgery, and clinical follow-up was favorable. The abdominal cysts were isolated in 52 cases (71%) and associated with other anomalies in 21 cases (29%). Aneuploidies were diagnosed in three cases (all trisomy 21). Eight cases underwent termination of pregnancy; there were no fetal deaths and one neonatal death. Postnatal surgery was performed in 30 out of 65 liveborn infants (46.1%). Overall diagnostic agreement between prenatal and postnatal diagnosis of fetal intra-abdominal cystic lesions is high. © 2015 John Wiley & Sons, Ltd.

  6. [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.

  7. [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.

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

    PubMed Central

    Henn, W.

    2000-01-01

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

  9. Making the most of uncertainty: Treasuring exceptions in prenatal diagnosis.

    PubMed

    Hogan, Andrew J

    2016-06-01

    Throughout the 20th century, human genetics research was driven by the identification of new variants. As pioneering geneticist William Bateson put it, novel variants were "exceptions" to "treasure". With the rise of human chromosomal analysis in the postwar period, the identification of genetic variants became increasingly significant to clinical and prenatal diagnosis. Human geneticists had long sought a broader sampling of human genetic variation, from a largely "normal" population. The expansion of prenatal diagnosis in the late 20th century offered a new resource for identifying novel genetic variants. In the prenatal diagnostic setting however, many of the exceptions to be treasured were of uncertain clinical significance, which raised anxiety among parents. In the early 1990s, providers reported that specific uncertain results from chorionic villus sampling (CVS) facilitated prenatal diagnoses that were not previously possible. Based on this, some prenatal diagnostic providers began to embrace uncertainty, when properly managed to reduce anxiety, rather than prevent it. The potential to produce uncertainty in prenatal diagnosis grew with whole genome microarray in the 2000s. Rather than outcomes to avoid, or accept as inevitable, providers presented uncertain results as starting points for research to improve the scope prenatal diagnosis, and bring future certainty. Copyright © 2016 Elsevier Ltd. All rights reserved.

  10. Results and Pitfalls in Prenatal Cytogenetic Diagnosis

    PubMed Central

    Hsu, Lillian Y. F.; Dubin, Elyse C.; Kerenyi, Thomas; Hirschhorn, Kurt

    1973-01-01

    Since 1969, we have cultured over 200 diagnostic amniotic fluids. Of these, 183 were for cytogenetic diagnosis. The chromosome analysis was successful in 168 cases. The indications and the results of the affected fetuses (followed by therapeutic abortion) are: (1) previous child with Down's syndrome: 62 cases (1:47,XX,+21); (2) advanced maternal age: 54 cases (1:47,XXY; 1:45,X/46,XY mosaicism; 1:47,+18); (3) previous child with multiple anomalies: 12 cases; (4) previous child with 47,XY,+18 or 47,+13: five cases; (5) translocation carrier: two cases; (6) parental mosaicism: three cases; (7) X-linked disorders: six cases (3:XY); (8) others: 24 cases. We have found firstly, that for prenatal sex determination, karyotype analysis of the cultured amniotic fluid cells is the only accurate means and that caution must be taken if sex chromatin and Y-fluorescent body determination from the uncultured amniotic fluid cells is used. Secondly, that diagnosis of chromosomal mosaicism can be problematic as exemplified by our case of 45,X/46,XY mosaicism, where only 45,X cells were recovered from the first culture. Thirdly, that in cases with enlarged satellites, cells of late prophase or early metaphase must be used to eliminate confusion with translocations. We encountered three cases of enlarged satellites—one in the D group and two in the G group—and all three resulted in normal infants. Fourthly, that the karyotype may be altered by contamination and/or treatment or other unknown factors. We have observed two such cases where each mother delivered a normal infant. Images PMID:4268389

  11. [Prenatal diagnosis. Review, personal and prospective studies].

    PubMed

    Engel, E; Empson, J; DeLozier, D; McGee, B; da Costa Woodson, E; Engel-de Montmollin, M; Carter, T; Lorber, C; Cassidy, S B; Millis, J; Heller, R M; Boehm, F; Vanhooydonk, J

    1979-07-07

    1. In a review of methods developed for the identification of fetal malformations, the technique, risks and results of amniocentesis are presented. 2. Large series already published have demonstrated the relative simplicity and feasibility of the procedure as well as current indications for its utilization. These include the detection of chromosomal anomalies, the determination of sex (in certain sex-linked disorders), documentation of enzymatic and metabolic deficiencies, and the demonstration of open lesions of the neural tube by appropriate techniques. 3. Experience with over 500 cases personally tested by the authors entirely confirms the major indications for and benefits of this modern method for the detection and prevention of severe congenital anomalies during early pregnancy. 4. The identification of chromosomal alterations is currently the major objective of the method. Increased risks are associated with pregnancies involving a maternal age of 35 years or older (which account for 1-3% of aneuploidies), the birth of a previous infant with free trisomy 21 (1% recurrence risk) or secondary to a parental chromosome translocation (as much as 10% risk of aneuploidy). Fetal karyotyping for determination of sex, in cases where the mother is a carrier of an X-linked recessive gene (on average, 50% of male offspring will be affected), is an inadequate method of diagnosis to be utilized only until alternative techniques render possible specific diagnosis of the anomalies under consideration (hemophilias A and B, muscular dystrophy, etc). 5. Several of these techniques are now nearing development through the advent of fetoscopy and advanced ultrasound methodology, and have already been applied to the detection of certain sex-linked disorders and also for diagnosis of hemoglobinopathies (thalassemias, sickel cell anemia) and other conditions requiring the obtaining of fetal blood for diagnosis. Technology allowing direct examination of fetal parts by means of optical

  12. 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

  13. 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.

  14. 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

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

    PubMed

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

    2015-08-01

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

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

    PubMed

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

    1995-02-01

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

  17. Ultrasound prenatal diagnosis of congenital primary aphakia: case report

    PubMed Central

    Di Meglio, Filippo; Vascone, Carmine; Di Meglio, Letizia; Turco, Luigi Carlo Lo; Vitale, Salvatore Giovanni; Cignini, Pietro; Valenti, Gaetano; Gulino, Ferdinando Antonio; Rapisarda, Agnese Maria Chiara; Cianci, Stefano

    2015-01-01

    Introduction the ultrasound prenatal diagnosis of aphakia is a difficult diagnosis and often requires a genetic study of the karyotype. Case report we present a rare case of prenatal bilateral aphakia, confirmed after bird. The patient was observed by ultrasound during the 23rd week of pregnancy. Through transabdominal ultrasound the lens could not be visualized bilaterally. The remaining anathomy, explorable by ultrasound, was still regular. When aphakia is suspected, genetic counseling is essential. Conclusion a differential diagnosis between aphakia and anophtalmia is necessary. A TORCH complex evaluation can be useful. Amniocentesis is always required. PMID:26918094

  18. Foetal axillary lymphangioma with ipsilateral pes equinovarus: pitfalls in sonographic differential diagnosis (axillary lymphangioma & pes equinovarus).

    PubMed

    Bulbul Baytur, Yesim; Artunc Ulkumen, Burcu; Pala, Halil Gursoy

    2015-01-01

    Lymphangiomas are rare congenital malformations of the lymphatic system. Despite the benign histology, they are likely to grow rapidly and invade the surrounding tissues. In contrast to the cystic hygromas, lymphangiomas at the axillary region tend to have normal karyotype. However, associated hydrops makes the prognosis poor. Due to isolated few cases in the literature, the true incidence of foetal axillary lymphangiomas is not known. We present here a pre-natal ultrasonographic diagnosis of a 15-week foetus with rapidly growing axillary lymphangioma with ipsilateral foot abnormality which had normal karyotype.

  19. Structural chromosomal anomalies detected by prenatal genetic diagnosis: our experience.

    PubMed

    Farcaş, Simona; Crişan, C D; Andreescu, Nicoleta; Stoian, Monica; Motoc, A G M

    2013-01-01

    The prenatal diagnosis is currently widely spread and facilitates the acquiring of important genetic information about the fetus by a rate extremely accelerate and considered without precedent. In this paper, we like to present our experience concerning the genetic diagnosis and counseling offered for pregnancies in which a structural chromosomal aberration was found. The study group is formed by 528 prenatal samples of amniotic fluid and chorionic villi, received by our laboratory from 2006 through October 2012 for cytogenetic diagnosis. The appropriate genetic investigation was selected based on the indications for prenatal diagnosis. The cases with structural chromosomal anomalies and polymorphic variants were analyzed as regard to the maternal age, gestational age, referral indications and type of chromosomal anomaly found. A total number of 21 structural chromosomal anomalies and polymorphic variants were identified in the study group. Out of 21 structural chromosomal anomalies and polymorphic variants, six deletions and microdeletions, four situations with abnormal long "p" arm of acrocentric chromosomes, two duplications, two reciprocal translocations, two inversions, two additions, one Robertsonian translocation associating trisomy 13, one 9q heteromorphism and one complex chromosome rearrangement were noticed. To the best of our knowledge, this is the first Romanian study in which the diagnostic strategies and the management of the prenatal cases with structural rearrangements are presented. The data provided about the diagnosis strategy and the management of the prenatal cases with structural chromosomal anomalies represents a useful tool in genetic counseling of pregnancies diagnosed with rare structural chromosomal anomalies.

  20. [Genetic diagnosis and prenatal genetic diagnosis of fragile X syndrome].

    PubMed

    Wu, Ling-Qian; Pan, Qian; Long, Zhi-Gao; Zhu, Jun-Zhen; Dai, He-Ping; Zheng, Duo; Xia, Kun; Huang, Xing-Qing; Xia, Jia-Hui

    2003-03-01

    In order to obtain a simple,fast,accurate and low-cost diagnosis method of fragile X syndrome, cytogenetic tests and molecular genetic tests were carried out with direct amplification of (CGG)(n) repeat sequence in 5' terminal of FMR1 gene by PCR and the cDNA sequence of FMR1 by RT-PCR from six mental retardation pedigrees. The proband of pedigree A with high expression of fragile X chromosome(35/273) was detected to be a full mutation patient of fragile X syndrome by the molecular genetic test. There is no expression of fragile X chromosome in the proband and his mother of pedigree B, which was further confirmed as a non-fragile X pedigree by the molecular genetic test. A male foetus of the pedigree C has fragile X chromosome(5/93), but the proband and his mother has no fragile X chromosome. By further detection using molecular genetic test, the male foetus is a full mutation patient of fragile X syndrome, his mother is a permutated carrier, and his brother is a mosaic patient. The proband of pedigree D has high expression of fragile X chromosome (17%), his sister also has expression of fragile X chromosome (5%). By further detection with molecular genetic test, the proband is a full mutation patient of fragile X syndrome,and his sister is a mosaic patient. The probands of pedigrees E and F of the mother were found with suspicions fragile X chromosome, being confirmed as the non-fragile X pedigrees by the molecular genetic test. The conclusion is that the analysis test with direct amplification of 5'j(CGG)n repeat sequence and cDNA sequence in FMR1 gene is simple,fast,low-cost and can be applied in screening, diagnosis and prenatal diagnosis of fragile X syndrome.

  1. Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders.

    PubMed

    Verma, Jyotsna; Thomas, Divya C; Sharma, Sandeepika; Jhingan, Geetu; Saxena, Renu; Kohli, Sudha; Puri, Ratna D; Bijarnia, Sunita; Verma, Ishwar C

    2015-11-01

    To offer accurate prenatal diagnosis of lysosomal storage disorders in early pregnancy. Prenatal enzymatic diagnoses of Gaucher, Fabry, Pompe, Niemann Pick A/B, Tay Sach, Sandoff, GM1, mucoplysaccharidoses, Wolman, Krabbe, Metachromatic leukodystrophy and Batten diseases were made in uncultured chorionic villi samples by fluorometric/spectrophotometric methods. Of 331 prenatal enzymatic diagnosis, 207 fetuses (67%) were normal and 124 (37%) were affected. The interpretation of affected, normal and carrier fetuses was done using their respective reference ranges as well as % enzyme activity of normal mean. The prenatal molecular confirmation was feasible in 43 biochemically diagnosed fetuses. Of the 207 normal reported fetuses, post natal enzymatic confirmation was done in 23 babies, clinical status of another 165 babies was assessed as unaffected via questionnaire on telephone and 19 were lost to follow-up. In affected pregnancies, 123 opted for termination of which 44 were confirmed enzymatically after abortion. A single false positive was determined to be a carrier by prenatal mutation analysis and carried to term. We recommend uncultured chorionic villi for reliable prenatal enzymatic diagnosis of various lysosomal storage disorders on account of the low rate of false positive (0.5%) and false negative (2.2%) results. © 2015 John Wiley & Sons, Ltd.

  2. From karyotyping to array-CGH in prenatal diagnosis.

    PubMed

    Lichtenbelt, K D; Knoers, N V A M; Schuring-Blom, G H

    2011-01-01

    Conventional karyotyping detects chromosomal anomalies in up to 35% of pregnancies with fetal ultrasound anomalies, depending on the number and type of these anomalies. Extensive experience gained in the past decades has shown that prenatal karyotyping is a robust technique which can detect the majority of germline chromosomal anomalies. For most of these anomalies the phenotype is known. In postnatal diagnosis of patients with congenital anomalies and intellectual disability, array-CGH/SNP array has become the first-tier investigation. The higher abnormality detection yield and its amenability to automation renders array-CGH also suitable for prenatal diagnosis. As both findings of unclear significance and unexpected findings may be detected, studies on the outcome of array-CGH in prenatal diagnosis were initially performed retrospectively. Recently, prospective application of array-CGH in pregnancies with ultrasound anomalies, and to a lesser extent in pregnancies referred for other reasons, was studied. Array-CGH showed an increased diagnostic yield compared to karyotyping, varying from 1-5%, depending on the reason for referral. Knowledge of the spectrum of array-CGH anomalies detected in the prenatal setting will increase rapidly in the years to come, thus facilitating pre- and posttest counseling. Meanwhile, new techniques like non-invasive prenatal diagnosis are emerging and will claim their place. In this review, we summarize the outcome of studies on prenatal array-CGH, the clinical relevance of differences in detection rate and range as compared to standard karyotyping, and reflect on the future integration of new molecular techniques in the workflow of prenatal diagnosis. Copyright © 2011 S. Karger AG, Basel.

  3. Prenatal diagnosis of limb abnormalities: role of fetal ultrasonography

    PubMed Central

    Ermito, Santina; Dinatale, Angela; Carrara, Sabina; Cavaliere, Alessandro; Imbruglia, Laura; Recupero, Stefania

    2009-01-01

    Fetal ultrasonografy is the most important tool to provide prenatal diagnosis of fetal anomalies. The detection of limb abnormalities may be a complex problem if the correct diagnostic approch is not established. A careful description of the abnormality using the rigth nomenclature is the first step. Looking for other associated abnormalities is the threshold to suspect chromosomal abnormalities or single gene disorder. According to the patogenic point of view, limb abnormalities may be the result of malformation, deformation, or disruption. The prenatal diagnosis and the management of limb abnormalities involve a multidisciplinary team of ostetrician, radiologist/sonologist, clinical geneticist, neonatologist, and orthopedic surgeons to provide the parents with the information regarding etiology of the disorder, prognosis, option related to the pregnancy and recurrence risk for future pregnancies. The aim of this review is to describe the importance of detailed fetal ultrasonography in prenatal diagnosis of limb abnormalities. PMID:22439035

  4. Prenatal diagnosis of cystic fibrosis: 10-years experience.

    PubMed

    Hadj Fredj, S; Ouali, F; Siala, H; Bibi, A; Othmani, R; Dakhlaoui, B; Zouari, F; Messaoud, T

    2015-06-01

    We present in this study our 10years experience in prenatal diagnosis of cystic fibrosis performed in the Tunisian population. Based on family history, 40 Tunisian couples were selected for prenatal diagnosis. Fetal DNA was isolated from amniotic fluid collected by transabdominal amniocentesis or from chronic villi by transcervical chorionic villus sampling. The genetic analysis for cystic fibrosis mutations was performed by denaturant gradient gel electrophoresis and denaturing high-pressure liquid phase chromatography. We performed microsatellites analysis by capillary electrophoresis in order to verify the absence of maternal cell contamination. Thirteen fetuses were affected, 21 were heterozygous carriers and 15 were healthy with two normal alleles of CFTR gene. Ten couples opted for therapeutic abortion. The microsatellites genotyping showed the absence of contamination of the fetal DNA by maternal DNA in 93.75%. Our diagnostic strategy provides rapid and reliable prenatal diagnosis at risk families of cystic fibrosis. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  5. New developments in prenatal diagnosis of congenital adrenal hyperplasia.

    PubMed

    Kazmi, Diya; Bailey, Jack; Yau, Maggie; Abu-Amer, Wahid; Kumar, Ameet; Low, Merly; Yuen, Tony

    2017-01-01

    Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene. Females affected with classical CAH are at risk for genital ambiguity, but can be treated in utero with dexamethasone before 9 gestational weeks to prevent virilization. Early genetic diagnosis is unavailable through current invasive methods of chorionic villus sampling and amniocentesis. New developments in prenatal genetic testing utilize fetal DNA extracted from maternal blood through noninvasive methods, which allow the determination of fetal gender and the diagnosis of CAH at an early gestational age (<9 weeks). Noninvasive prenatal diagnosis allows for the establishment of early and effective management plans in fetuses at risk for CAH and avoids unnecessary prenatal dexamethasone treatment. Copyright © 2016 Elsevier Ltd. All rights reserved.

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

    PubMed

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

    2016-09-01

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

  7. 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.

  8. Prenatal Diagnosis and Evaluation of Abnormal Placentation.

    PubMed

    Fox, Karin A; Lee, Wesley

    2017-09-01

    Abnormalities in placental location or adherence can have important consequences on pregnancy outcome for both mother and fetus. Accurate antenatal detection is crucial for delivery timing and planning to help reduce perinatal risks for adverse events. We review the relevant literature and present a practical approach for the prenatal detection of abnormal placentation.

  9. 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.

  10. Pattern and prenatal diagnosis of skeletal dysplasias in Qatar population.

    PubMed

    Ahmed, Badreldeen; Fakhry, Abdel-Baset; Luetic, Ana Tikvica; Kurjak, Asim

    2010-12-01

    To determine the pattern of skeletal dysplasias in Qatar population and to assess the accuracy of prenatal diagnosis and prognosis. This was a retrospective descriptive study of 30 women with high risk for skeletal dysplasias. The recruited women were submitted to clinical assessment, ultrasound scanning using 2-dimensional, 3-dimensional/4-dimensional and colour Doppler technique with possible molecular diagnosis. The findings were compared with the postnatal or postmortem assessments. Final diagnosis was based on clinical examination, skeletal survey, autopsy and molecular testing as deemed necessary. Thirty cases of skeletal dysplasia were antenatally diagnosed over 4-year period with family history in few cases. Among many entities thanatophoric dysplasia showed largest prevalence [7(23%)]. Prenatal diagnosis was accurate in 76% of foetuses while the first indicator of abnormality was a suspected anomaly found during routine ultrasound assessment in most cases [17(56%)]. Prediction of lethality based on ultrasound findings was 100% accurate. This study confirmed the possibility of good prenatal diagnosis of skeletal dysplasias present among Qatar population. Diagnosis based on ultrasound assessment will improve by adding molecular techniques with positive impact on prenatal care.

  11. Arthrogryposis: a review and approach to prenatal diagnosis.

    PubMed

    Rink, Britton D

    2011-06-01

    Congenital contractures are a common ultrasound finding. Arthrogryposis, defined as multiple contractures involving more than one area of the body, is not a specific diagnosis but rather a description of clinical findings. It is associated with more than 300 different disorders, many of which have other associated malformations and/or neurocognitive delay. Lack of fetal movement or akinesia commonly accompanies the contractures. The underlying diagnosis may be the result of a neurogenic or myopathic process, a connective tissue disorder, intrauterine compression, a teratogenic exposure or vascular insult. When a patient presents with arthrogryposis, the challenge for obstetricians is to assess the fetal condition, associated abnormalities and family history to offer the most accurate counseling and diagnosis. A multidisciplinary approach incorporating obstetrics, genetics, pediatric neurology, and fetopathology is warranted. Prenatal diagnostic testing options are available. Postnatal evaluation by pediatric specialists is important and offers enhanced diagnostic capabilities and recurrence risk counseling. We present an organized approach to the prenatal assessment of arthrogryposis as well as recommendations for intrapartum and postpartum care. Obstetricians & Gynecologists, Family Physicians After completing this CME activity, physicians should be better able to define arthrogryposis and identify a classification framework to approach prenatal diagnosis, develop a differential diagnosis for a fetus who demonstrates arthrogryposis, formulate an action plan for prenatal diagnosis and assess the importance of a multidisciplinary approach to counseling and care when a fetus is identified to have arthrogryposis.

  12. Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

    PubMed Central

    Perez-Carbajo, Esther; Sanfrutos-Llorente, Luis; Cruz-Melguizo, Sara; Martinez-Payo, Cristina; Iglesias-Goy, Enrique

    2015-01-01

    Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. The combination of achondroplasia and Klinefelter syndrome is extremely rare and just four reports have been published in the literature, which were all diagnosed postnatally. We report the fifth case described of this uncommon association and its prenatal diagnosis. In cases of prenatal diagnosis of achondroplasia with additional suspicious morphological abnormalities, an invasive test such as amniocentesis must be carried out to assess the karyotype normality. PMID:25789188

  13. Prenatal diagnosis of bilateral pulmonary agenesis: a case report.

    PubMed

    Lee, Kyung A; Cho, Jeong Yeon; Lee, Seung Mi; Jun, Jong Kwan; Kang, Jieun; Seo, Jeong-Wook

    2010-01-01

    We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed.

  14. 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.

  15. Prenatal Diagnosis of β-Thalassemias and Hemoglobinopathies.

    PubMed Central

    Rosatelli, Maria Cristina; Saba, Luisella

    2009-01-01

    Prenatal diagnosis of β-thalassemia was accomplished for the first time in the 1970s by globin chain synthesis analysis on fetal blood obtained by placental aspiration at 18–22 weeks gestation. Since then, the molecular definition of the β-globin gene pathology, the development of procedures of DNA analysis, and the introduction of chorionic villous sampling have dramatically improved prenatal diagnosis of this disease and of related disorders. Much information is now available about the molecular mechanisms of the diseases and the molecular testing is widespread. As prenatal diagnosis has to provide an accurate, safe and early result, an efficient screening of the population and a rapid molecular characterization of the couple at risk, are necessary prerequisites. In the last decades earlier and less invasive approaches for prenatal diagnosis were developed. A overview of the most promising procedure will be done. Moreover, in order to reduce the choice of interrupting the pregnancy in case of affected fetus, Preimplantation or Preconceptional Genetic Diagnosis (PGD) has been setting up for several diseases including thalassemias PMID:21415992

  16. Prenatal Depression: Best Practice Guidelines for Diagnosis and Treatment

    ERIC Educational Resources Information Center

    Choate, Laura H.; Gintner, Gary G.

    2011-01-01

    The purpose of this article is to provide counselors with an overview of best practices for the treatment of women who experience prenatal depression (PND). The authors first discuss issues in the screening and diagnosis of PND. Next, the 2 most common treatments, antidepressants and psychotherapy, are reviewed and discussed in relation to current…

  17. Prenatal diagnosis and long survival of Fryns' syndrome.

    PubMed

    Gadow, E C; Lippold, S; Serafin, E; Salgado, L J; Garcia, C; Prudent, L

    1994-08-01

    We report on a case of Fryns' syndrome diagnosed prenatally in a woman with no family history of this disorder. A computerized database was used for the differential diagnosis. Intensive perinatal care resulted in prolonged survival, which is unusual in individuals with Fryns' syndrome. This case provides further delineation of the developmental course in patients with this condition.

  18. Prenatal Depression: Best Practice Guidelines for Diagnosis and Treatment

    ERIC Educational Resources Information Center

    Choate, Laura H.; Gintner, Gary G.

    2011-01-01

    The purpose of this article is to provide counselors with an overview of best practices for the treatment of women who experience prenatal depression (PND). The authors first discuss issues in the screening and diagnosis of PND. Next, the 2 most common treatments, antidepressants and psychotherapy, are reviewed and discussed in relation to current…

  19. Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis.

    PubMed

    Rasmussen, S A; Bieber, F R; Benacerraf, B R; Lachman, R S; Rimoin, D L; Holmes, L B

    1996-01-02

    The osteochondrodysplasias (skeletal dysplasias) are a heterogeneous group of disorders characterized by abnormalities in cartilage and bone growth and development. Some of these disorders are detectable during the second trimester by sonographic techniques. We ascertained cases of osteochondrodysplasias in elective pregnancy terminations, stillborn infants older than 20 gestational weeks, and liveborn infants diagnosed by the fifth day of life as part of an ongoing active malformation surveillance program. Forty-nine cases of osteochondrodysplasias were identified among approximately 126,000 deliveries at Brigham and Women's Hospital (BWH) during a 15-year period (Feb. 16, 1972-Feb. 15, 1975; Jan. 1, 1979-Dec. 31, 1990). When cases delivered to women who had planned to deliver at another hospital but were transferred for high-risk care (transfers) were excluded, the prevalence rate was 2.14 cases per 10,000 deliveries. During the early period (1972-1975) no cases were suspected prenatally, while during the 1988-1990 period, 80% of all cases and 57% of cases delivered to women who had always planned to deliver at BWH (non-transfers) were suspected by ultrasonography. Birth status changed through our period of surveillance. In the final 3-year period (1988-1990), 40% of all cases and 29% of non-transfers with osteochondrodysplasias were pregnancy terminations, compared to none during the 1972-1975 period. The increasing frequency of pregnancy terminations complicated the diagnosis of these conditions. Despite extensive evaluation, a definitive diagnosis was not possible in 8 of 49 cases (16%). Biochemical and molecular genetic methods of diagnosis will continue to become more important if the current trend of wide utilization of prenatal sonography and termination of affected pregnancies continues.

  20. Enlarged posterior fossa on prenatal imaging: differential diagnosis, associated anomalies and postnatal outcome.

    PubMed

    Wüest, Anja; Surbek, Daniel; Wiest, Roland; Weisstanner, Christian; Bonel, Harald; Steinlin, Maja; Raio, Luigi; Tutschek, Boris

    2017-07-01

    The primary aim of this study was to ascertain the prevalence of the individual conditions and of associated anomalies in fetuses with the prenatal diagnosis of enlarged posterior fossa (PF) and to explore the diagnostic accuracy of ultrasound in these anomalies. The secondary aim was to evaluate the postnatal outcome of children affected by PF anomalies. All fetuses with enlarged PF detected by prenatal sonography at a referral center from 2001 to 2015 were analyzed retrospectively. Some were also studied by fetal magnetic resonance imaging (MRI) or volume ultrasound examinations. Fetal sonographic and MRI were compared using following classification: Dandy-Walker malformation (DWM); megacisterna magna (MCM); Blake's pouch cyst; isolated vermian hypoplasia; vermian agenesis; PF arachnoid cyst (AC); and cerebellar hypoplasia (CH). The ultrasound diagnoses of the 69 fetuses were as follows: MCM (n = 29; of these isolated n = 15), DWM (n = 28, isolated n = 4), vermian hypoplasia (n = 5, isolated n = 4), Blake's pouch cyst (n = 4, isolated n = 1), CH (n = 2; none isolated) and AC in the PF (n = 1, isolated). Thirteen of the 41 karyotyped fetuses were aneuploid, including seven with DWM. Associated malformations were found in 37/69 cases. There were 39 live births, including 11 with confirmed DWM, six of whom show a normal development. Twelve infants with isolated MCM show normal development. There were eight false-positive prenatal diagnoses (or resolution until birth) of "enlarged PF": three with Blake's pouch cyst, two with MCM and one with vermian hypoplasia. An enlarged PF requires specific diagnoses for the best possible counseling. The term "Dandy-Walker variant" should not be used anymore. Isolated MCM and Blake's pouch cyst can either resolve or be normal variants, but may also indicate the presence of a more severe anomaly or associated malformations. © 2017 Nordic Federation of Societies of Obstetrics and Gynecology.

  1. Prenatal diagnosis of ductus arteriosus aneurysm

    PubMed Central

    Hutchinson, DP; Sampson, AJ

    2015-01-01

    The ductus arteriosus holds major functional importance within the fetal circulation, and anomalies within the ductus arteriosus may interfere with the integrity of the fetal circulation. Ductus arteriosus aneurysm, previously considered a rare lesion, is now a well-reported finding in infancy with some reports describing this finding in the prenatal period. Postnatally, most ductus arteriosus aneurysms resolve spontaneously; however, a small group of infants show complications such as connective-tissue disorders, thrombo-embolism, compression of surrounding thoracic structures and life-threatening spontaneous rupture requiring surgical correction. As such, postnatal assessment in this group is recommended. PMID:27433265

  2. Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome.

    PubMed

    Kou, K O; Poon, C F; Kwok, S L; Chan, K Yk; Tang, M Hy; Kan, A Sy; Leung, K Y

    2016-06-01

    In Hong Kong, universal combined first-trimester screening for Down's syndrome was started as a 'free service' in July 2010. Non-invasive prenatal testing was available as a self-financed item in August 2011. This study aimed to determine whether the introduction of non-invasive prenatal testing as a contingent approach influenced the indications for invasive prenatal diagnosis and the consequent prenatal detection of Down's syndrome. This historical cohort study was conducted at the Prenatal Diagnosis Clinic of Queen Elizabeth Hospital in Hong Kong. We compared the indications for invasive prenatal diagnosis and prenatal detection of Down's syndrome in singleton pregnancies 1 year before and 2 years following the availability of non-invasive prenatal testing as a contingent test after a positive aneuploidy test. All pregnant women who attended our hospital for counselling about universal Down's syndrome screening between August 2010 and July 2013 were recruited. A total of 16 098 women were counselled. After the introduction of non-invasive prenatal testing, the invasive prenatal diagnosis rate for a positive aneuploidy screening reduced from 77.7% in 2010-11 to 68.8% in 2012-13. The new combined conventional plus non-invasive prenatal testing strategy was associated with a lower false-positive rate (6.9% in 2010-11 vs 5.2% in 2011-12 and 4.9% in 2012-13). There was no significant increase in invasive prenatal diagnosis for structural anomalies over the years. There was no significant trend in the overall prenatal detection rate of Down's syndrome (100% 1 year before vs 89.1% 2 years after introduction of non-invasive prenatal testing). Four (2.6%) of 156 women who underwent non-invasive prenatal testing for a screen-positive result had a high-risk result for trisomy 21, which was subsequently confirmed by invasive prenatal diagnosis. There were no false-negative cases. The introduction of non-invasive prenatal testing as a contingent approach reduced the invasive

  3. Prenatal Diagnosis of Tectocerebellar Dysraphia with Occipital Encephalocele

    PubMed Central

    Sanhal, Cem Y; Tokmak, Aytekin; Müftüoglu, Kamil H; Danisman, Nuri

    2015-01-01

    Tectocerebellar dysraphia (TCD) is an extremely rare disorder and comprises the congenital abnormalities including occipital encephalocele, aplasia and/or hypoplasia of cerebellar vermis and deformity of tectum. Only few reported cases of this entity are there in the literature. However, the diagnosis in each of the previous cases had been made after birth. We herein describe the first reported case of prenatal diagnosis for TCD in a Turkish woman. PMID:26816952

  4. [Clinical value of prenatal MRI in the diagnosis and differential diagnosis of fetal bronchopulmonary sequestration].

    PubMed

    Li, Zhi; Zhu, Ming; Dong, Suzhen; Luo, Zhiqin; Fei, Zhenghua; Fang, Xiangming; Qi, Linghong

    2016-01-01

    To investigate the clinical value of prenatal MRI in the diagnosis and differential diagnosis of congenital bronchopulmonary sequestration (BPS). From January 2009 to December 2014, 16 fetuses with BPS were diagnosed by fetal MRI in Huzhou Maternity and Child Care Hospital and Shanghai Children's Medical Center Affiliated to Shanghai Jiaotong University School of Medicine. The clinical data of these cases were analyzed retrospectively. All were singleton pregnancy, and MRI was carried out within 24-48 hours after routine prenatal ultrasound. All the neonates underwent postnatal enhanced CT scan or surgical biopsy after birth, and the results were compared to prenatal MRI diagnosis. (1) With prenatal MRI, 16 cases were diagnosed BPS. The lesions located in left lung in 10 cases, and right lung in 6 cases. As the scope of the lesion, 3 cases located in the whole left lung, 6 cases limited to the left lower lobe, and 1 case was subdiaphragmatic on the left side. 2 cases located in the whole right lung and 4 cases limited to the right lower lobe. One case complicated oligoamnios, and one had pleural effusion. Supplying vessels could be found in 14 cases. (2) When the postnatal results were compared with prenatal MRI, 15 cases were comfirmed as BPS (15/16), including 10 intralobar cases 5 extralobar cases. One that was diagnosed as BPS by prenatal MRI was confirmed to be congenital cystic adenomatoid malformation (CCAM) by pathology. The accuracy of prenatal MRI diagnosis of BPS was 15/16. Prenatal ultrasound missed one case and misdiagnosed two cases, as one was mistakened as CCAM and the other as cystic teratoma. Prenatal MRI has good clinical value in the diagnosis and differential diagnosis of fetal BPS.

  5. [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.

  6. Prenatal diagnosis and gonadal findings in X/XXX mosaicism.

    PubMed Central

    Kohn, G; Cohen, M M; Beyth, Y; Ornoy, A

    1977-01-01

    Prenatal diagnosis of a case of X/XXX mosaicism is presented. In spite of the fact that over 50% of the cells cultured from both ovaries were trisomic for the X chromosome, fetal öocytes were rarely found. This case illustrates that the presence of a triple-X cell line, even in a relatively high percentage of ovarian cells, does not necessarily protect the ovary from 'aöogenesis'. This observation might prove useful in the counselling of future cases involving the prenatal detection of sex chromosome mosaicism. Images PMID:856232

  7. 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.

  8. Germline mosaicism in Rett syndrome identified by prenatal diagnosis.

    PubMed

    Mari, F; Caselli, R; Russo, S; Cogliati, F; Ariani, F; Longo, I; Bruttini, M; Meloni, I; Pescucci, C; Schurfeld, K; Toti, P; Tassini, M; Larizza, L; Hayek, G; Zappella, M; Renieri, A

    2005-03-01

    Rett syndrome is an X-linked neurodevelopmental dominant disorder that affects almost exclusively girls. The vast majority of cases are sporadic and are caused by de novo mutations in the MECP2 gene, located in Xq28. Only few familial cases have been reported: in four cases, the mother was an asymptomatic carrier and in other four cases, the germline mosaicism in the mother was postulated. Owing to the above reported cases of germline mosaicism, we decided to offer prenatal diagnosis to all expectant mothers with a Rett daughter despite the absence of the causative mutation in parents' blood. We describe here the outcome of the first nine cases of prenatal diagnosis followed by our center. In eight cases, the fetus did not carry the mutation. In one case, the female fetus did carry the same mutation of the affected sister. The couple decided to interrupt the pregnancy and to devolve fetal tissues for research purposes. Our results indicate that prenatal diagnosis should be proposed to all couples with a Rett daughter, even when the mutation is apparently de novo. Moreover, one positive prenatal test among the first nine cases indicates that germline mosaicism may be seriously considered for the assessment of recurrence risk during genetic counseling.

  9. Prenatal molecular diagnosis in RASA1-related disease.

    PubMed

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

    2017-10-12

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

  10. Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency.

    PubMed

    Oldani, Elena; Garel, Catherine; Bucourt, Martine; Carbillon, Lionel

    2015-12-16

    Prenatal diagnosis of severe bone diseases is challenging and requires complete and precise analysis of fetal anomalies to guide genetic investigation and parental counselling. We report a rare case of Antley-Bixler syndrome prenatally diagnosed at 26 weeks' gestation by ultrasound and computed tomography in a 28-year-old woman with a history of early termination of pregnancy for "malposition of the inferior limbs". The prenatal ultrasound scan showed severe femoral bowing and frontal bossing. Taking into account the high probability of a recurrent severe skeletal disorder, a computed tomography (CT) scan was proposed. CT findings revealed bilateral femora deformation, craniosynostosis, severe midface hypoplasia, and radiohumeral synostosis. These anomalies strongly suggested Antley-Bixler syndrome. Sequencing of the POR gene in the fetus and the parents revealed compound heterozygous mutations in exon 9 and intron 7, both inherited from each parent, and this finding allowed genetic counseling. The first step in the proper prenatal diagnosis of fetal bone disorders is the precise analysis of ultrasonographic images. However, when a severe fetal inherited disorder is strongly suspected in late mid-trimester, CT may be discussed and usefully contribute to diagnosis and prognosis assessment.

  11. Cell-Free Fetal DNA Testing for Prenatal Diagnosis.

    PubMed

    Drury, S; Hill, M; Chitty, L S

    Prenatal diagnosis and screening have undergone rapid development in recent years, with advances in molecular technology driving the change. Noninvasive prenatal testing (NIPT) for Down syndrome as a highly sensitive screening test is now available worldwide through the commercial sector with many countries moving toward implementation into their publically funded maternity systems. Noninvasive prenatal diagnosis (NIPD) can now be performed for definitive diagnosis of some recessive and X-linked conditions, rather than just paternally inherited dominant and de novo conditions. NIPD/T offers pregnant couples greater choice during their pregnancy as these safer methods avoid the risk of miscarriage associated with invasive testing. As the cost of sequencing falls and technology develops further, there may well be potential for whole exome and whole genome sequencing of the unborn fetus using cell-free DNA in the maternal plasma. How such assays can or should be implemented into the clinical setting remain an area of significant debate, but it is clear that the progress made to date for safer prenatal testing has been welcomed by expectant couples and their healthcare professionals. © 2016 Elsevier Inc. All rights reserved.

  12. Three-dimensional sonography in prenatal diagnosis: a luxury or a necessity?

    PubMed

    Kurjak, A; Hafner, T; Kos, M; Kupesic, S; Stanojevic, M

    2000-01-01

    Three-dimensional sonography revolutionized ultrasound imaging with its capacity to depict an unlimited number of planes in which the object of interest can be displayed. The addition of numerous modalities of image rendering promotes three-dimensional sonography to the top of the spectrum of diagnostic imaging in obstetrics and gynecology. The aim of this article is to present our experience in 3-D sonography during the second and third trimester of pregnancy and to give a comparative review of literature. 247 patients in gestational age ranging from 12 to 40 weeks of gestation were examined over a three year period. The majority of patients entered the study because fetal anomaly was suspected at two-dimensional sonography. Some patients were sent on to three-dimensional sonography because it was not possible to depict clearly normal fetal anatomy by two dimensional sonography. Out of 170 fetal anomalies three-dimensional sonographic analysis failed in only three cases. In all three anomaly was accompanied with severe oligohydramnios. Main advantages of three-dimensional ultrasound in perinatal medicine and antenatal diagnosis include scanning in the coronal plane, improved assessment of complex anatomic structures, surface analysis of minor defects, volumetric measuring of organs, "plastic" transparent imaging of fetal skeleton, spatial presentation of blood flow arborization and, finally, storage of scanned volumes and images. It is our decided opinion that three-dimensional sonography has gained a valuable place in prenatal diagnosis, becoming a necessity for every modern perinatal unit.

  13. Prenatal Diagnosis of Down Syndrome: Mothers' Reflections on Supports Needed from Diagnosis to Birth.

    ERIC Educational Resources Information Center

    Helm, David T.; Miranda, Sara; Chedd, Naomi Angoff

    1998-01-01

    A qualitative study of 10 mothers who received a prenatal diagnosis of Down syndrome and chose to continue their pregnancy examined how the diagnosis was presented, the decision to continue the pregnancy, and the mothers' experiences with professionals from diagnosis to delivery. Mothers' suggestions to others facing the same challenges and to…

  14. [Cystic adenomatoid malformation of the lung. Importance of prenatal diagnosis].

    PubMed

    Cabeza, Beatriz; Oñoro, Gonzalo; Cantarín Extremera, Verónica; Sanz Santiago, Verónica; Sequeiros, Adolfo

    2011-04-01

    Cystic adenomatoid malformation of the lung is a rare malformation of the lung airway which often performed diagnosed in the prenatal period by ultrasound. Ultrasound monitoring should be performed during pregnancy to assess lung development. We report the case of a 4-year-old patient with prenatal diagnosis of cystic adenomatoid malformation of the lung, not confirmed by chest radiograph at birth. The patient underwent surgery at 4 years of age after diagnosis was made for presenting recurrent pneumonia. A normal chest radiograph at birth does not exclude this malformation and a computerized tomography at 4 weeks of birth must be done to confirm or rule out this anomaly. Once the diagnosis is made, surgical treatment should be prompted to avoid complications.

  15. Computer-aided lesion diagnosis in B-mode ultrasound by border irregularity and multiple sonographic features

    NASA Astrophysics Data System (ADS)

    Lee, Jong-Ha; Seong, Yeong Kyeong; Chang, Chu-Ho; Ko, Eun Young; Cho, Baek Hwan; Ku, Jeonghun; Woo, Kyoung-Gu

    2013-02-01

    In this paper, we propose novel feature extraction techniques which can provide a high accuracy rate of mass classification in the computer-aided lesion diagnosis of breast tumor. Totally 290 features were extracted using the newly developed border irregularity feature extractor as well as multiple sonographic features based on the breast imaging-reporting and data system (BI-RADS) lexicons. To demonstrate the performance of the proposed features, 4,107 ultrasound images containing 2,508 malignant cases were used. The clinical results demonstrate that the proposed feature combination can be an integral part of ultrasound CAD systems to help accurately distinguish benign from malignant tumors.

  16. Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review.

    PubMed

    Luisin, Marion; Chevreau, Julien; Klein, Céline; Naepels, Philippe; Demeer, Bénédicte; Mathieu-Dramard, Michèle; Jedraszak, Guillaume; Gondry-Jouet, Catherine; Gondry, Jean; Dieux-Coeslier, Anne; Morin, Gilles

    2017-09-26

    Facial femoral syndrome (FFS) is a rare congenital abnormality, also known as femoral hypoplasia-unusual facies syndrome, characterized by variable degrees of femoral hypoplasia, associated with specific facial features. Other organ malformations are sometimes present. Most cases are sporadic, but rare family observations suggest genetic origin. However, no chromosomal or genetic abnormalities have ever been incriminated. We conducted a comprehensive literature review and added three new unreported observations. Through these 92 cases, authors aimed to determine sonographic signs that should direct towards diagnosis, and discuss potential genetic etiology. Diagnosis was suspected prenatally in 27.2% of cases, and maternal diabetes was found in 42.4% of patients. When fetal karyotype was available, it was normal in 97.1% of cases, but genomic variations of unknown significance were discovered in all three cases in which array comparative genomic hybridization (CGH) techniques were applied. Femoral affection defining FFS was hypoplasia in 78.3% of cases, agenesis in 12%, and both in 9.8%. Affection was bilateral in 84.8% of cases. Retrognathia was present in 65.2% of cases, cleft lip and/or palate in 63%, and other organ malformations in 53.3%. Intellectual development was normal in 79.2% of cases. Better prenatal recognition of this pathology, notably frequently associated malformations, should lead to a more precise estimation of functional prognosis. It seems likely that today's tendency to systematically employ array-CGH and exome/genome sequencing methods to investigate malformative sequences will allow the identification of a causal genetic abnormality in the near future. © 2017 Wiley Periodicals, Inc.

  17. Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 --> qter.

    PubMed

    Tchirikov, M; Merinsky, A; Strohner, M; Bonin, M; Beyer, V; Haaf, T; Bartsch, O

    2010-03-01

    Prenatal diagnosis of trisomy 7 is complex due to only a few reported cases. We report here on a stillborn boy with very large duplication of 7q11.22 --> qter, encompassing almost the entire long arm of chromosome 7. Ultrasound, fetal and parental chromosome banding, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (CGH) analyses were performed. Sonographic findings included growth retardation, micrognathia, ventricular septal defect (VSD), aortic coarctation, bradyarrhythmia, pericardial effusion, bilateral hydronephrosis, infravesical obstruction, and cerebellar hypoplasia. Chromosome analysis after cordocentesis at 23 weeks of gestation revealed an abnormal male karyotype with 46 chromosomes and a derivative chromosome 7 with a very large duplication of the long arm, 46,XY,der(7)(qter --> q11.2::p22 --> qter). The mother was found to carry an apparently balanced pericentric inversion, 46,XX,inv(7)(p22q11.2). Thus, the recombinant chromosome 7 [rec(7)dup(7q)inv(7)(p22.3q11.22)mat] of the fetus must have arisen through meiotic crossing-over between the inverted chromosome and the normal chromosome 7 in the maternal germline. FISH and array CGH results confirmed the recombinant chromosome 7 in the fetus and indicated a loss of 1.9 Mb at chromosome 7pter --> p22.3 (pter to 1,948,072 bp), and a gain of 87.04 Mb at chromosome 7q11.22 --> qter (71,760,154 bp to qter). The rare syndrome of almost complete trisomy 7q may be suspected in cases of growth retardation, cerebellar hypoplasia, micrognathia, aortic coarctation and VSD and hydronephrosis. Invasive prenatal diagnosis must be offered to the parents. (c) 2010 Wiley-Liss, Inc.

  18. [Prenatal diagnosis of trisomy 18 syndrome with sonogram index scoring system].

    PubMed

    Peng, Ruan; Xie, Hong-ning; Zhang, Ying; Luo, Yan-min; Li, Li-juan; Zhu, Yun-xiao; Lin, Mei-fang

    2011-11-01

    To explore the value of sonogram index scoring system in the prenatal diagnosis of trisomy 18 syndrome. Neonates who had prenatal sonographic screening in our tertiary center were followed up from January 2004 to December 2009. The fetuses who were suspected with abnormalities received karyotype analysis. All fetuses were divided into case group (trisomy 18 group) and the control group (non-trisomy 18 group). The latter group was constituted of fetuses with trisomy 21, trisomy 13, other chromosomal abnormalitis and fetuses with normal karyotype. Logistic regression analysis was done to decide the individual sonographic features of trisomy 18. A score was assigned for ultrasound markers according to their likelihood ratios for trisomy 18 syndrome. A score of 3 was assigned for the sonographic features with likelihood ratio over 200, 2 for those with likelihood ratio between 100 and 200, and 1 for those with likelihood ratio less than 100. The diagnostic efficacy of the ultrasound index scoring system was evaluated by diagnostic test. The optimal cutoff value was determined by receiver operating characteristic (ROC) curve. The study group included 59 fetuses with trisomy 18. And 26 486 fetuses did not have trisomy 18 syndrome, including 93 fetuses with trismoy 21, 19 fetuses with trisomy 13, 134 fetuses with other chromosomal abnormalities, 3739 fetuses with normal karyotype and 22 501 fetuses with normal appearance after birth. Two or more structural defects were observed in each trisomy 18 fetus. The highest incidence of sonogram abnormalities was extremities abnormalities (85%, 50/59), followed by cardiac defects (83%, 49/59) and central nervous system (CNS) malformations (75%, 44/59). Overlapping fingers, ventricular septal defect and strawberry-shaped skull were the most common abnormalities in extremities abnormalities, cardiac defects and CNS malformations, respectively. Logistic regression identified 16 markers, including choroid plexus cyst, strawberry

  19. Recommendations for the use of microarrays in prenatal diagnosis.

    PubMed

    Suela, Javier; López-Expósito, Isabel; Querejeta, María Eugenia; Martorell, Rosa; Cuatrecasas, Esther; Armengol, Lluis; Antolín, Eugenia; Domínguez Garrido, Elena; Trujillo-Tiebas, María José; Rosell, Jordi; García Planells, Javier; Cigudosa, Juan Cruz

    2017-04-07

    Microarray technology, recently implemented in international prenatal diagnosis systems, has become one of the main techniques in this field in terms of detection rate and objectivity of the results. This guideline attempts to provide background information on this technology, including technical and diagnostic aspects to be considered. Specifically, this guideline defines: the different prenatal sample types to be used, as well as their characteristics (chorionic villi samples, amniotic fluid, fetal cord blood or miscarriage tissue material); variant reporting policies (including variants of uncertain significance) to be considered in informed consents and prenatal microarray reports; microarray limitations inherent to the technique and which must be taken into account when recommending microarray testing for diagnosis; a detailed clinical algorithm recommending the use of microarray testing and its introduction into routine clinical practice within the context of other genetic tests, including pregnancies in families with a genetic history or specific syndrome suspicion, first trimester increased nuchal translucency or second trimester heart malformation and ultrasound findings not related to a known or specific syndrome. This guideline has been coordinated by the Spanish Association for Prenatal Diagnosis (AEDP, «Asociación Española de Diagnóstico Prenatal»), the Spanish Human Genetics Association (AEGH, «Asociación Española de Genética Humana») and the Spanish Society of Clinical Genetics and Dysmorphology (SEGCyD, «Sociedad Española de Genética Clínica y Dismorfología»). Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  20. Prenatal diagnosis of spinal muscular atrophy in Macedonian families.

    PubMed

    Kocheva, Svetlana A; Plaseska-Karanfilska, Dijana; Trivodalieva, Svetlana; Kuturec, Marija; Vlaski-Jekic, Snezana; Efremov, Georgi Dimitar

    2008-09-01

    Spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disorder of childhood, affecting approximately 1 in 6,000-10,000 births, with a carrier frequency of 1 in 40-60. There is no effective cure or treatment for this disease. Thus, the availability of prenatal testing is important. The aim of this study was to establish an efficient and rapid method for prenatal diagnosis of SMA and genetic counseling in families with risk for having a child with SMA. In this paper we present the results from prenatal diagnosis in Macedonian SMA families using direct analysis of fetal DNA. The probands of these families were previously found to be homozygous for a deletion of exons 7 and 8 of SMN1 gene. DNA obtained from chorionic villas samples and amniocytes was analyzed for deletions in SMN gene. SMN exon 7 and 8 deletion analysis was performed by polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP). Of the 12 prenatal diagnoses, DNA analysis showed normal results in eight fetuses. Four of the fetuses were homozygote for a deletion of exons 7 and 8 of SMN1. After genetic counseling, the parents of the eight normal fetuses decided to continue the pregnancy, while in the four families with affected fetuses, the pregnancy was terminated. The results were confirmed after birth.

  1. Prenatal diagnosis of thalassemia in twin pregnancies in mainland China.

    PubMed

    Li, Dong-Zhi; Pan, Min; Han, Jin; Yang, Xin; Zhen, Li; Li, Jian; Ou, Yan-Mei

    2016-08-01

    The aim of this study was to describe our experience with prenatal diagnosis of thalassemia in twin pregnancies at a tertiary referral centre in mainland China. All cases of twin pregnancies at risk of α- or β-thalassemias were followed over an eight-year period. There were 32 twin pregnancies at a mean gestation of 14 weeks (range, 11-21 weeks) at risk of thalassemias, including 19 at risk of α-thalassemia and 13 at risk of β-thalassemia. Chorionicity was determined by ultrasound before prenatal diagnosis. In 19 twin pregnancies at risk of α-thalassemia, there were four where both foetuses were affected, 13 where both foetuses were not affected, and two where one foetus was affected and the other one was not affected. In 13 twin pregnancies at risk of β-thalassemia, there were five where both foetuses were affected, six where both foetuses were not affected, and two where one foetus was affected and the other one was not affected. The pregnancies with two affected foetuses were aborted (including four affected by α-thalassemia and five affected by β-thalassemia), and in pregnancies with one normal twin and one affected twin, the affected foetuses were selectively aborted (including two twins affected by α-thalassemia, and two twins affected by β-thalassemia). Efforts should be taken to reduce the risks of the mother and foetuses in prenatal diagnosis without compromising the precise diagnosis.

  2. [Prenatal diagnosis of fetal gray matter heteropia in one case and literature review].

    PubMed

    Zhagn, Kui; Li, Shengli; Wen, Huaxuan; Yuan, Ying

    2015-12-01

    To investigate the prenatal ultrasonic manifestations of fetal gray matter heterotopias (FGMH) and evaluate the optimal method its prenatal diagnosis. The prenatal and postnatal ultrasound images and MRI images were analyzed for a fetus with a definitive diagnosis of FGMH. The detection rates of FGMH by prenatal ultrasound and MRI reported in literature were compared. We identified 11 reports of FGMH from 1998 to 2015, involving 43 cases with prenatal diagnoses. Of the total of 44 cases (including our case), 32 that had been confirmed postpartum had prenatal ultrasound and MRI data, which showed a significantly lower detection rates of FGMH by prenatal ultrasound than by MRI (43.8% vs 93.8%, P<0.001). Prenatal ultrasound can only detect subependymal heterotopia with characteristic manifestations, and the detection of other types of FGMH relies on MRI, which is currently the best option for prenatal diagnosis of FGMH.

  3. 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.

  4. [Homozygous protein C deficiency can be detected by prenatal diagnosis].

    PubMed

    Jerkeman, A; Henriksson, P; Jonsson, N O; Berntorp, E

    1998-09-02

    Homozygous protein C deficiency (HPCD) with purpura fulminans is a rare condition with an estimated incidence of 1-2 per 400,000 births. About 20 case reports have appeared since the first one was published in 1983. HPCD provides an excellent illustration of the fundamental importance of the protein C anticoagulant pathway. This severe coagulopathy results in serious organ damage, often already in utero, and without treatment it is incompatible with life. The treatment options include fresh frozen plasma and protein C concentrate in the acute phase, followed by oral anticoagulant therapy. Over 160 different point mutations in the protein C gene have been identified in recent years, offering new possibilities for prenatal diagnosis. The article describes the case of a family who lost two children with congenital HPCD. But where the specific point mutation was identified thus enabling prenatal diagnosis to be performed in a subsequent pregnancy.

  5. New trend in non-invasive prenatal diagnosis.

    PubMed

    Ferrari, M; Carrera, P; Lampasona, V; Galbiati, S

    2015-12-07

    The presence of fetal DNA in maternal plasma represents a source of genetic material which can be obtained non-invasively. To date, the translation of noninvasive prenatal diagnosis from research into clinical practice has been rather fragmented, and despite the advances in improving the analytical sensitivity of methods, distinguishing between fetal and maternal sequences remains very challenging. Thus, the field of noninvasive prenatal diagnosis of genetic diseases has yet to attain a routine application in clinical diagnostics. On the contrary, fetal sex determination in pregnancies at high risk of sex-linked disorders, tests for fetal RHD genotyping and non-invasive assessment of chromosomal aneuploidies are now available worldwide. Copyright © 2014 Elsevier B.V. All rights reserved.

  6. Uhl's anomaly: a difficult prenatal diagnosis.

    PubMed

    Vaujois, Laurence; van Doesburg, Nicolaas; Raboisson, Marie-Josée

    2015-03-01

    Uhl's anomaly is an evolutive disease leading to terminal right ventricular failure. The most difficult differential diagnosis at presentation is the Ebstein disease. We describe the evolution of a foetus with Uhl's anomaly from 21 to 30 weeks of gestation, with progressive reduction in the right ventricular anterior myocardium suggestive of apoptosis, leading to foetal demise.

  7. Prenatal diagnosis of congenital myopathies and muscular dystrophies.

    PubMed

    Massalska, D; Zimowski, J G; Bijok, J; Kucińska-Chahwan, A; Łusakowska, A; Jakiel, G; Roszkowski, T

    2016-09-01

    Congenital myopathies and muscular dystrophies constitute a genetically and phenotypically heterogeneous group of rare inherited diseases characterized by muscle weakness and atrophy, motor delay and respiratory insufficiency. To date, curative care is not available for these diseases, which may severely affect both life-span and quality of life. We discuss prenatal diagnosis and genetic counseling for families at risk, as well as diagnostic possibilities in sporadic cases. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.

    PubMed Central

    Halley, D; Heukels-Dully, M J

    1977-01-01

    Autoradiographic demonstration of 3H-hypoxanthine incorporation in small numbers of amniotic fluid cells cultured on coverslips is a rapid and practical technique in the prenatal diagnosis of the Lesch-Nyhan mutation. An affected male fetus, a normal male fetus, and a heterozygous female fetus were identified within 14 days after amniocentesis in three pregancies at risk for the Lesch-Nyhan syndrome. Images PMID:856956

  9. Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report.

    PubMed

    Suzumura, Hiroshi; Kohno, Tatsuo; Nishimura, Gen; Watanabe, Hiroshi; Arisaka, Osamu

    2002-05-01

    We describe the successful prenatal diagnosis of hypochondrogenesis by MRI. Fetal MR findings were the presence of a conspicuous cartilaginous structure in the basioccipital region, ill-defined ossification of the cervical vertebral bodies, hypoplastic thorax, retarded ossification of the pubic bones, and broad, short long bones. In contrast, fetal US revealed only the presence of short long bones. MRI accurately delineated the axial skeleton in this case and is an effective clinical tool for diagnosing skeletal dysplasias in utero.

  10. [Molecular diagnosis and prenatal diagnosis in a hereditary multiple osteochondromas family].

    PubMed

    Tang, Ying; Zheng, De-zhu; Guo, Xiao-yan; Liao, Juan; Lan, Feng-hua

    2013-12-18

    To identify the mutation in the disease gene and provide prenatal diagnosis for a hereditary multiple osteochondromas (HMO) family. The exons of EXT1 gene in the proband with HMO and his family members were amplified by PCR. The products were analyzed by direct sequencing. Prenatal genetic diagnosis was performed by amniocentesis sampling after genotyping the proband. In the family, the affected proband was heterozygous of the mutation of 1476_1477delTC in the EXT1 gene, and the proband's father carried the same mutation in part of his somatic cells. No mutation was found in the EXT1 gene of the proband's mother and other 11 siblings of his father. METHODS for molecular diagnosis and prenatal diagnosis of HMO were established and applied to a family of HMO.

  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. [Lethal osteochondrodysplasias: prenatal and postnatal differential diagnosis].

    PubMed

    Sauer, I; Klein, B; Leeners, B; Cotarelo, C; Heyl, W; Funk, A

    2000-06-01

    Lethal osteochondrodysplasias show an abnormal maturation and a disturbed growth of cartilage and bones. They represent a heterogeneous group of rare genetic diseases. Their incidence is 1 to 3 in 10,000 births. We report altogether 5 cases: two of thanatophoric dysplasia, one of achondrogenesis type II and two cases of the rare fibrochondrogenesis. The differential diagnosis in respect to ultrasonographic, morphologic, radiographic and histopathologic criteria of the most common of these diseases are discussed together with a review of the literature. On the basis of the ultrasound finding of the short-rib-syndrome, it is possible to differentiate between viable and lethal osteochondrodysplasias at 19 to 22 weeks of gestation. The short-rin-syndrome leads to pulmonary hypoplasia. It is essential to obtain an exact diagnosis postnatally by radiographic and histopathological examinations to counsel the parents concerning the risk of recurrency. The risk in this heterogeneous group of genetic diseases ranges between less than 1% up to 50% depending on the final diagnosis. Our two cases of fibrochondrogenesis in a consanguineous couple strongly suggest an autosomal recessive inheritance in this disease.

  13. Prenatal diagnosis and telemedicine consultation of fetal urologic disorders.

    PubMed

    Rabie, Nader Z; Canon, Stephen; Patel, Ashay; Zamilpa, Ismael; Magann, Everett F; Higley, Jared

    2016-06-01

    In Arkansas, telemedicine is used commonly in obstetrics through Antenatal and Neonatal Guidelines, Education and Learning System (ANGELS), the existing statewide telemedicine network. This network is used primarily for tele-ultrasound and maternal-fetal medicine consultation. This study is a retrospective case series, describing all the patients who had a prenatally diagnosed urologic anomaly that required prenatal urologic consultation. From 2009-2013, approximately 1300 anomalies were recorded in the Arkansas Fetal Diagnosis and Management (AFDM) database, 14% of which were urologic anomalies. Twenty-six cases required prenatal urologic consultation, 25 of which were conducted via telemedicine. Teleconsultation allowed patients to combine maternal-fetal medicine and urologic consultations in one visit, saving time and effort and ultimately, for most patients, providing reassurance that delivery could be accomplished locally with postnatal follow-up already arranged. While there are several studies reporting the use of telemedicine for various subspecialty consultations, to our knowledge, this is the first to describe the use of telemedicine for prenatal urology consultation. Future research could randomize patients prospectively to allow comparison of both the outcomes as well as the patient experience.

  14. Prenatal diagnosis of atrial isomerism in the Korean population

    PubMed Central

    Lee, Mi-Young; Shim, Jae-Yoon; Lee, Pil-Ryang; Lee, Byong Sop; Kim, Ellen Ai-Rhan; Kim, Young-Hwue; Park, Jeong-Jun; Yun, Tae-Jin; Kim, Ahm

    2014-01-01

    Objective To report our experiences in the prenatal diagnosis of atrial isomerism and postnatal outcomes. Methods A total of 80 fetuses prenatally diagnosed with atrial isomerism were retrospectively analyzed between 1999 and 2011 at a single institution. Results Of 43 fetuses with prenatally diagnosed right atrial isomerism (RAI), 40 cases were analyzed. The diagnostic accuracy was 93%. The main intracardiac anomalies in RAI were atrioventricular septal defect (AVSD), abnormal pulmonary venous connection, bilateral superior vena cava (BSVC), and pulmonary atresia. Among 28 live births, three infants were lost to follow up, and the overall survival rate was 60%. Of 37 fetuses with prenatally diagnosed left atrial isomerism (LAI), 35 were evaluated. The diagnostic accuracy was 97%. The main intracardiac anomalies in LAI were ventricular septal defect, BSVC, AVSD, double outlet right ventricle, and bradyarrhythmia. Among seven patients with bradyarrhythmia, only one showed a complete atrioventricular block. All fetuses had an interrupted inferior vena cava with azygous continuation. The overall survival rate was 90%. Conclusion Our study confirms the previous findings of fetal atrial isomerism. We also demonstrates a much lower prevalence of AVSD and complete heart block in LAI and a better survival rate in RAI. Although the postnatal outcomes for RAI were worse than those for LAI, successful postnatal surgery with active management improved the survival rate. PMID:24883290

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

    PubMed

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

    2015-09-01

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

  16. Prenatal diagnosis of hypophosphatasia congenita using ultrasonography

    PubMed Central

    2016-01-01

    Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of Epub ahead of print lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present in the fetus of a 25-year-old female who came for an anomaly scan in her second trimester of pregnancy. Additional findings of generalized demineralization and osteochondral spurs led to the diagnosis of hypophosphatasia congenita. The pregnancy was terminated, and the findings were confirmed on autopsy. Common differential diagnoses with clues to diagnose the above mentioned condition have been discussed here. Early and accurate detection of this medical condition is important as no treatment has been established for this condition. Therefore, antenatal ultrasonography helps in diagnosing and decision making with respect to the current pregnancy and lays the foundation for the genetic counseling of the couple. PMID:25971898

  17. Natural history of fetal trisomy 13 after prenatal diagnosis.

    PubMed

    Barry, Sinead C; Walsh, Colin A; Burke, Annette L; McParland, Peter; McAuliffe, Fionnuala M; Morrison, John J

    2015-01-01

    There are currently limited data describing the natural history and outcome for fetal trisomy 13 diagnosed prenatally. The aim of this study was to evaluate the fetal and neonatal outcome for pregnancies with an established prenatal diagnosis of fetal trisomy 13, and a parental decision for continuation of the pregnancy. To this end, the obstetric and neonatal outcome data for such pregnancies, diagnosed at two referral Fetal Medicine Centers, were retrospectively obtained and examined. During the study period, there were 45 cases of trisomy 13 diagnosed at both units, of which 26 (56%) continued with the pregnancy to its natural outcome. There were 12 intrauterine deaths in the cohort resulting in a rate of 46.2% of intrauterine lethality. Conversely, the live birth rate was 53.8%. For infants born alive, neonatal death on day 1 of life occurred in 78.6% of cases. The overall early neonatal mortality rate was 93%. There was one infant death at 6 weeks of age and no survival noted beyond this period. These data provide reliable information for parental counseling pertaining to risk of intrauterine death when trisomy 13 is diagnosed prenatally. These data also indicate that the survival outcome is worse than that previously accepted from studies of postnatal follow up of live born infants with this diagnosis.

  18. Ultrasound Prenatal Diagnosis of Inguinal Scrotal Hernia and Contralateral Hydrocele

    PubMed Central

    Massaro, G.; Sglavo, G.; Cavallaro, A.; Pastore, G.; Nappi, C.; Di Carlo, C.

    2013-01-01

    Fetal inguinal scrotal hernia is a rare condition resulting in an abnormal embryonic process of the tunica vaginalis. We report a case of ultrasound prenatal diagnosis of inguinal scrotal hernia associated with contralateral hydrocele in a woman at 37 weeks of gestation, referred to our clinic for a scrotal mass. Differential diagnosis includes hydrocele, teratoma, hemangiomas, solid tumours of testis, bowel herniation, and testicular torsion. Bowel peristalsis is an important ultrasound sign and it allowed us to make diagnosis of inguinal scrotal hernia. Diagnosis was confirmed at birth and a laparoscopic hernia repair was performed without complications on day 10. During surgery, a bilateral defect of canal inguinal was seen and considered as the cause of scrotal inguinal hernia and contralateral hydrocele observed in utero. PMID:24455356

  19. Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome.

    PubMed

    Boulet, S; Dieterich, K; Althuser, M; Nugues, F; Durand, C; Charra, C; Schaal, J P; Jouk, P S

    2010-01-01

    We report the prenatal management of a brachytelephalangic chondrodysplasia punctata (CDPX1) case and how postnatal findings confirmed the diagnosis. The mother was initially referred after ultrasound revealed an abnormal fetal mid-face and punctuation of upper femoral epiphyses. Chondrodysplasia punctata (CP) with Binder anomaly was suspected. 3D-HCT revealed brachytelephalangy suggesting CDPX1. At birth, mid-face hypoplasia was marked. Postnatal imaging and genetic analysis confirmed the initial diagnosis. Binder anomaly is probably always associated with CP. The newly revised CP classification facilitates the diagnosis. The main etiologies are metabolic and chromosomal abnormalities, and arylsulfatase E enzyme dysfunction. Thus, screening for arylsulfatase E mutation is mandatory for an accurate diagnosis and can lead to better delineation among CP etiologies associated with a Binder phenotype. Copyright © 2010 S. Karger AG, Basel.

  20. Termination of pregnancy after prenatal diagnosis of spina bifida: a German perspective.

    PubMed

    Domröse, Christian M; Bremer, Sandra; Buczek, Caroline; Geipel, Annegret; Berg, Christoph; Gembruch, Ulrich; Willruth, Arne

    2016-10-01

    To analyze fetal cases with spina bifida undergoing termination of pregnancy according to chromosomal analysis and further diagnosed sonographic findings. Retrospective analysis of cases with spina bifida leading to termination of pregnancy in a tertiary referral center from 2002 to 2011. In the study period, 246 cases of spina bifida were diagnosed in our center and 157 parents chose termination of pregnancy. The time of diagnosis was on average 2 days before the first presentation at our department (22 + 3, range: 12 + 3 - 33 + 3 weeks of gestation). Among 157 pregnancies with spina bifida and termination of pregnancy, further malformations could be detected in 46 (29.3 %) cases. An abnormal karyotype could be found in 13 (18.1 %). Severe ventriculomegaly or mild/moderate ventriculomegaly was present in 109 (69.4 %) and 29 (18.5 %) of the cases, respectively, while banana sign was detectable in 153 cases (97.5 %). In the majority, the upper lesion level was lumbar (71.3 %). In 67 cases (42.7 %), termination of pregnancy took place in or after the 24th week of gestation. Direct and indirect signs of spina bifida were detectable in nearly all cases independent of the gestational age. Therefore, the diagnosis could have been made in all cases with late termination. Implementation of a uniform prenatal care including first-trimester scan with potential signs for open spina bifida and second-trimester anomaly scan with indirect intracranial findings and direct detection of spinal lesion could lead to an earlier diagnosis and help to reduce late termination of pregnancy in neural tube defects.

  1. [Study on genetic diagnosis and prenatal diagnosis of alpha-thalassemia].

    PubMed

    Liu, Jing-zhong; Wang, Li-rong; Huang, Li-jia; Xiao, Bai; Zhou, Yan

    2005-02-01

    To develop a single-tube multiplex polymerase chain reaction (mPCR) technique to detect three common deletional alpha-thalassemias (alpha-Thal) in Chinese, and to perform genetic diagnosis and prenatal diagnosis for an alpha-Thal family from Hebei province, China. Fourty-two blood samples including samples from one alpha-Thal family from Hebei province were assayed. The mPCR containing 7 primers, gel electrophoresis and DNA sequencing were used for the genetic diagnosis and prenatal diagnosis. The gene types of the fourty-two DNA samples analyzed by the mPCR-gel electrophoresis technique were in accordance with the results by Southern blot and three separate PCR techniques. A HbH child and a fetus of the alpha-Thal family were diagnosed as--(SEA)/alpha(cs)alpha and alpha alpha/alpha alpha respectively by using the mPCR and DNA sequencing. The result of postnatal analysis of the cord blood was consistent with the prenatal result (alpha alpha/alpha alpha). The developed mPCR technique can be used for genetic diagnosis and prenatal diagnosis of the 3 deletional alpha-Thal in Chinese.

  2. 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.

  3. Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome.

    PubMed

    Dave, Usha; Shetty, Dhanlaxmi

    2014-02-01

    Phenotypic variability and the lack of a diagnostic marker have complicated the rapid diagnosis and genetic counseling for Cornelia de Lange syndrome (CdLS). The clinical features of CdLS are striking and easily recognizable by characteristic facial dysmorphism, upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities with severe mental retardation. The molecular diagnosis is essential for predicting prognosis and genetic counseling in the affected family, especially while planning the next pregnancy. We report here from India six cases of CdLS and how precise mutational screening in two cases helped in prenatal diagnosis and proved significant in prevention of recurrence in the affected family.

  4. Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population.

    PubMed

    Casals, T; Gimenez, J; Ramos, M D; Nunes, V; Estivill, X

    1996-03-01

    Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasian populations. The Spanish CF population is highly heterogeneous, with more than 70 different mutations causing CF. Since the CFTR gene was cloned, we have performed 81 prenatal diagnoses for 74 couples. Sixty-nine cases had a high risk (1/4) for CF and 12 presented a lower risk (1/240). Direct analysis was possible in 36 cases (44.4 per cent); it was necessary to combine mutation analysis with polymorphic markers in 24 cases (29.6 per cent); mutation analysis and microvillar enzymatic (MVE) analysis were combined in five cases (6.1 per cent); and in 16 cases (19.8 per cent), only indirect analysis was possible. Nine different mutations were detected in this series of families: 621 + 1G -> T, delta F508, 1609delCA, G542X, G551D, 1949del84, R1162X, W1282X, and N1303K. Another ten mutations were identified in these samples after prenatal diagnosis (1811 + 1.6kbA -> G, 711 + 1G -> T, 2869insG, G85E, 2176insC, delta I507, 3272-26A -> G, Q890X, R1066C, and 4005 + 1G -> A). Our current strategy for molecular diagnosis of CF in the Spanish population is based, as a first step, on direct analysis for the two most frequent mutations (delta F508 and G542X) and indirect analysis using the intragenic markers IVS8CA, IVS17BTA, and IVS17BCA. The second step consists of screening for the mutations already associated with the CFTR microsatellite haplotypes. The third step is a specific search for unknown mutations. While actual diagnostic methods are not automatic and robust enough for heterogeneous populations, the diagnostic strategy outlined provides rapid, accurate, and reliable prenatal diagnosis for the majority of couples.

  5. Trends in Invasive Prenatal Diagnosis: Effect of Sequential Screening and Noninvasive Prenatal Testing.

    PubMed

    Khalifeh, Adeeb; Weiner, Stuart; Berghella, Vincenzo; Donnenfeld, Alan

    2016-01-01

    To examine trends in the incidence and method of invasive prenatal diagnosis due to the impact of sequential screening and noninvasive prenatal testing. This is a retrospective review of all pregnancies that have undergone invasive prenatal diagnostic testing between June 2002 and June 2014, divided in 3 periods: period 1 from June 2002 to October 2006, period 2 from November 2006 to December 2011, and period 3 from January 2012 to June 2014. The main outcome measures were trends in the incidence and method of each procedure. There were 88,135 deliveries and 6,080 invasive procedures during the study period. In period 1, 2,755 (8.8%) procedures were carried out, in period 2 2,820 (7.3%), and in period 3 505 (2.5%; p < 0.01). In period 1, there were 1,990 (6.3%) cases of amniocentesis, 1,646 (4.3%) in period 2, and 254 (1.2%) in period 3 (p < 0.01). In addition, in 765 (2.5%) cases, chorionic villus sampling (CVS) was performed in period 1, compared to 1,174 (3.0%) cases in period 2 and 251 (1.3%) cases in period 3 (p < 0.01). Advanced maternal age as the sole indication for invasive procedures decreased significantly over time, while the indication of abnormal serum screening and abnormal ultrasound findings increased (p < 0.01). There was a significant decline in the incidence of invasive prenatal testing over the 12 years of the study. The decrease in amniocentesis was more marked than that in CVS. © 2015 S. Karger AG, Basel.

  6. Prenatal diagnosis of hypochondroplasia: report of two cases.

    PubMed

    Karadimas, C; Sifakis, S; Valsamopoulos, P; Makatsoris, C; Velissariou, V; Nasioulas, G; Petersen, M B; Koumantakis, E; Hatzaki, A

    2006-05-01

    Hypochondroplasia (HCH) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia (ACH). Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are present in a significant proportion of HCH patients. Reports of prenatal diagnosis of HCH are very rare and the phenotype/genotype correlation in these patients is poor. Here we present two sporadic cases with second trimester ultrasound findings consistent with a diagnosis of a non-lethal skeletal dysplasia. Ultrasound evaluation after 23 weeks of gestation showed a decreased rate of development of the femora (femur length Prenatal cytogenetic and molecular genetic analysis was performed. Karyotype was normal and FGFR3 G380R mutation characteristic of ACH was excluded in both fetuses. Molecular genetic analysis carried out retrospectively revealed that both fetuses were heterozygous for the C1620A mutation resulting in N540K substitution in FGFR3, the most common mutation in HCH. We conclude that the combination of ultrasound and molecular genetic approach is helpful for establishing an accurate diagnosis of HCH in utero and subsequently for appropriate genetic counseling and perinatal management. 2006 Wiley-Liss, Inc.

  7. Discordance between prenatal cytogenetic diagnosis and outcome of pregnancy.

    PubMed

    Loft, A; Tabor, A

    1984-01-01

    From 1.3.73 to 30.9.80 5580 women had an amniocentesis performed here or elsewhere; fetal chromosome analyses were carried out in this laboratory. We found 112 abnormal karyotypes (2 per cent) out of 5591 chromosome analyses. In 40 women (0.7 per cent) no cytogenetic diagnosis was obtained. Follow-up was successful in 99.5 per cent. Nine cases are reported in detail: Three cases had discrepancy between the karyotype in amniotic fluid and peripheral blood after delivery, two of these cases turned out to be 46,XX (male) while the third was prenatally determined as trisomy 21, but had a 46,XX karyotype at birth. Six cases had discrepancy between the karyotype in amniotic fluid and the phenotypic outcome at birth/abortion. One case was a prenatally undetected 45,X/46,XY mosaicism; one case was an unexplained 45,X male fetus; two cases were prenatally determined as trisomy 21, but at abortion a normal karyotype was determined and in two cases maternal cells were probably examined. The incidence of cytogenetic errors in this study was very low.

  8. Using fetal cells for prenatal diagnosis: History and recent progress.

    PubMed

    Beaudet, Arthur L

    2016-06-01

    The potential to use fetal cells in the mother's circulation during the first or second trimester for prenatal diagnosis was described in 1968, but it has not been possible do develop a routine clinical prenatal test despite extensive commercial and academic research efforts. Early attention focused on the detection of aneuploidy, but more recent technology opens the possibility of high resolution detection of copy number abnormalities and even whole genome or exome sequencing to detect both inherited and de novo mutations. In the interim, cell-free noninvasive prenatal testing NIPT has allowed improved detection of aneuploidy, but this has led to a sharp reduction in the number of amniocentesis and chorionic villus sampling (CVS) procedures, which inevitably implies reduced detection of serious de novo deletion abnormalities. Attention has focused of both fetal nucleated red blood cells (fnRBCs) and trophoblasts. Recent progress presented at meetings, but not yet published, suggests that it will soon be possible to perform genome-wide relatively high resolution detection of deletions and duplications by recovering fetal trophoblasts during the first trimester and analyzing them by whole gene genome amplification followed by copy number analysis using arrays or next generation sequencing. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  9. Beta thalassaemia mutations in Sardinians: implications for prenatal diagnosis.

    PubMed Central

    Rosatelli, C; Leoni, G B; Tuveri, T; Scalas, M T; Di Tucci, A; Cao, A

    1987-01-01

    In this study we have characterised by oligonucleotide hybridisation and direct restriction endonuclease analysis the beta thalassaemia mutation in 494 Sardinian beta thalassaemia heterozygotes. The most prevalent mutation, accounting for 95.4% of the cases, was the nonsense mutation at codon 39. The remainder, in decreasing order of frequency, were a frameshift at codon 6 (2.2%), beta + IVS-1, nt 110 (0.4%), and beta + IVS-2, nt 745 (0.4%). This information allows prenatal diagnosis by DNA analysis to be made in the great majority of Sardinian couples at risk for beta thalassaemia. Images PMID:3031299

  10. [Prenatal diagnosis of camptomelic dysplasia: a case report].

    PubMed

    Coutinho, Tadeu; Coutinho, Conrado Milani; Coutinho, Larissa Milani

    2008-05-01

    Camptomelic dysplasia belongs to a heterogeneous and rare group of lethal skeletal dysplasias, characterized by abnormal development of bones and cartilages. It is caused by a mutation in gene Sox9 (SRY-like HMG [high-mobility group] BOX 9) of chromosome 17 and it is transmitted as an autosomal dominant trait. Its main characteristics are the shortening and bowing of the long bones, principally the lower limbs. It is also associated with other severe skeletal and extraskeletal malformations. Karyotype study may reveal sex reversal. The majority of carriers die during the fetal and early neonatal periods. Ultrasound is essential to elucidate a prenatal diagnosis.

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

    PubMed

    Hanson, Charles; Wahlström, Jan

    2003-02-17

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

  12. Meckel syndrome and the prenatal diagnosis of neural tube defects.

    PubMed Central

    Seller, M J

    1978-01-01

    Two fetuses, terminated after prenatal diagnosis of aneural tube defect, had Meckel syndrome. There have now been three fetuses with this syndrome in a series of 35 terminated because of open lesions of the neural tube. It is suggested that such therapeutically aborted fetuses represent a highly selected group, among which a rare condition like Meckel syndrome will be concentrated. The need for a detailed examination of all terminated fetuses is emphasised, for the identification of such an autosomal recessive condition alters the genetic counselling for a future pregnancy. Images PMID:745218

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

    PubMed

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

    2016-12-01

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

  14. 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.

  15. Lymphoid Hyperplasia of the Appendix: A Potential Pitfall in the Sonographic Diagnosis of Appendicitis.

    PubMed

    Xu, Yingding; Jeffrey, R Brooke; DiMaio, Michael A; Olcott, Eric W

    2016-01-01

    The objective of this study was to test the hypothesis that thickening of the lamina propria, a finding produced by lymphoid hyperplasia, is significantly associated with false-positive sonographic diagnoses of appendicitis in 6- to 8-mm noncompressible appendixes. Sonograms of 119 consecutive patients with suspected appendicitis and 6- to 8-mm noncompressible appendixes were retrospectively blindly evaluated for thickening of the lamina propria (short axis thickness ≥ 1 mm). The reference standard for appendicitis was pathologic analysis of resected specimens. Results were compared with the two-tailed Fisher exact test. Thirty-one patients (26.1%) had a thickened lamina propria and 88 (73.9%) did not. Of the 27 pediatric patients with a thickened lamina propria, five (18.5%) had true-positive and 22 (81.5%) had false-positive sonograms for appendicitis; among the 55 pediatric patients without a thickened lamina propria, 27 (49.1%) had true-positive and 28 (50.9%) had false-positive sonograms for appendicitis (p = 0.009). Similar differences in adult patients were not statistically significant. All five pediatric patients with appendicitis and thickened lamina propria also showed two or more findings of periappendiceal fluid, hyperechoic periappendiceal fat, or mural hyperemia on color Doppler examination, compared with two of 22 similar pediatric patients without appendicitis (p < 0.001). Lymphoid hyperplasia may result in a noncompressible appendix 6-8 mm in diameter and may be misdiagnosed as appendicitis in pediatric patients. True-positive diagnoses of appendicitis can be accurately identified by the presence of at least two additional findings from the group of periappendiceal fluid, hyperechoic periappendiceal fat, and mural hyperemia. Identifying the characteristic sonographic appearance of lymphoid hyperplasia may help prevent false-positive misdiagnoses of appendicitis.

  16. 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.

  17. Mutation detection and prenatal diagnosis of XLHED pedigree

    PubMed Central

    Lin, Yao

    2017-01-01

    Background The phenotypic characters of X -linked Hypohidrotic Ectodermal Dysplasia (XLHED) are the dysplasia of epithelial- and mesenchymal-derived organs. Ectodysplasin (EDA) is the causative gene of XLHED. Methods The current study reported a large Chinese XLHED pedigree. The genomic DNA of adult and fetus was extracted from peripheral blood and shed chorion cell respectively. The nucleotide variation in EDA gene was screened through direct sequencing the coding sequence. The methylation state of EDA gene’s promoter was evaluated by pyrosequencing. Results This Chinese XLHED family had two male patients and three carriers. All of them were with a novel EDA frameshift mutation. The mutation, c.172-173insGG, which leads to an immediate premature stop codon in exon one caused severe structural changes of EDA. Prenatal diagnosis suggested that the fetus was a female carrier. The follow-up observation of this child indicated that she had mild hypodontia of deciduous teeth at age six. The methylation level of EDA gene’s promoter was not related to carriers’ phenotype changes in this family. Discussion We reported a new frameshift mutation of EDA gene in a Chinese family. Prenatal diagnosis can help to predict the disease status of the fetus. PMID:28875069

  18. Prenatal diagnosis of xeroderma pigmentosum group A in Japan.

    PubMed

    Moriwaki, Shinichi; Yamashita, Yoshiki; Nakamura, Sachiko; Fujita, Daisuke; Kohyama, Jun; Takigawa, Masahiro; Ohmichi, Masahide

    2012-06-01

    We performed a prenatal diagnosis for 10 fetuses from nine unrelated Japanese xeroderma pigmentosum complementation group A (XP-A) families. All parents had at least one XP-A child (proband) with a homozygous founder mutation (IVS3-1G>C) in the XPA gene. A genetic analysis was performed by a restriction enzyme; AlwNI fragment length polymorphism of polymerase chain reaction (PCR)-amplified DNA, mostly from amniotic fluid (AF) and cultured cells established from AF. However, for the first family, we tried amniocentesis as well as chorionic villus sampling (CVS). Among the 10 cases, we confirmed the results of PCR-based genetic diagnosis by post-ultraviolet survival of amniotic cells in eight cases. Unfortunately, 6 weeks after CVS and 4 days after the amniocentesis in the first case we examined, the fetus died in utero, the reason for which remains unexplained. We prenatally determined two XP-A cases, six XP-A carriers and two wild-type fetuses, which appears to be consistent with Mendel's law.

  19. Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX.

    PubMed

    Ben Hamouda, H; Mkacher, N; Elghezal, H; Bannour, H; Kamoun, M; Soua, H; Saad, A; Souissi, M M; Sfar, M T

    2009-11-01

    Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given.

  20. [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.

  1. Type IV Sacrococcygeal Teratoma Associated with Urogenital Sinus: Difficulties in the Prenatal Differential Diagnosis

    PubMed Central

    Sahinoglu, Zeki; Resit Asoglu, Mehmet; Özcan, Nahit

    2013-01-01

    Sacrococcygeal teratoma (SCT) is being more often detected due to availability of prenatal ultrasonography. Type IV SCT could be misdiagnosed as cloacal abnormalities due to the pelvic midline cystic mass associated with renal malformations and obstructive uropathy during the pregnancy. We discuss difficulties in the prenatal differential diagnosis of SCT and urogenital sinus in a 26-year-old pregnant woman, admitted to our prenatal diagnosis centre for a detailed US for a pre-sacral mass. PMID:26023429

  2. Type IV Sacrococcygeal Teratoma Associated with Urogenital Sinus: Difficulties in the Prenatal Differential Diagnosis.

    PubMed

    Sahinoglu, Zeki; Cerrah Celayir, Aysenur; Resit Asoglu, Mehmet; Özcan, Nahit

    2013-01-01

    Sacrococcygeal teratoma (SCT) is being more often detected due to availability of prenatal ultrasonography. Type IV SCT could be misdiagnosed as cloacal abnormalities due to the pelvic midline cystic mass associated with renal malformations and obstructive uropathy during the pregnancy. We discuss difficulties in the prenatal differential diagnosis of SCT and urogenital sinus in a 26-year-old pregnant woman, admitted to our prenatal diagnosis centre for a detailed US for a pre-sacral mass.

  3. Prenatal Diagnosis: Current Procedures and Implications for Early Interventionists Working with Families.

    ERIC Educational Resources Information Center

    Blasco, Patricia M.; And Others

    1994-01-01

    This article provides an overview of procedures commonly used in prenatal screening and diagnosis including ultrasound, amniocentesis, chorionic villus biopsy, maternal serum alpha-fetoprotein, and deoxyribonucleic acid (DNA) analysis. Emphasis is on the role of the early interventionist in supporting families during prenatal diagnosis. (Author/DB)

  4. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

    USDA-ARS?s Scientific Manuscript database

    This study was designed to evaluate the feasibility of using a targeted array-CGH strategy for prenatal diagnosis of genomic imbalances in a clinical setting of current pregnancies. Women undergoing prenatal diagnosis were counseled and offered array-CGH (BCM V4.0) in addition to routine chromosome ...

  5. Prenatal Diagnosis: Current Procedures and Implications for Early Interventionists Working with Families.

    ERIC Educational Resources Information Center

    Blasco, Patricia M.; And Others

    1994-01-01

    This article provides an overview of procedures commonly used in prenatal screening and diagnosis including ultrasound, amniocentesis, chorionic villus biopsy, maternal serum alpha-fetoprotein, and deoxyribonucleic acid (DNA) analysis. Emphasis is on the role of the early interventionist in supporting families during prenatal diagnosis. (Author/DB)

  6. Prenatal diagnosis of congenital fetal heart abnormalities and clinical analysis.

    PubMed

    Li, Hui; Wei, Jun; Ma, Ying; Shang, Tao

    2005-09-01

    To study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography. Nine hundred and eighty-two high-risk pregnancies for fetal CHD were included in this study, the fetal heart was scanned with the five transverse planes technique of fetal echocardiography described by Yagel, autopsy was conducted when pregnancy was terminated. Blood from fetal heart was collected for fetal chromosome analysis. A close follow-up was given for normal fetal heart pregnancies and neonatal echocardiography was performed to check the accuracy of prenatal diagnosis. (1) Forty-six cases (4.68%) were found to have fetal heart abnormalities in this study, 69.56% of them were diagnosed by single four-chamber view, another 30.43% fetal CHD were found by combining other views; (2) Forty-one parents of prenatal fetuses with CHD chose to terminate pregnancy, thirty-two of them gave consent to conduct autopsy, 93.75% of which yielded unanimous conclusion between prenatal fetal echocardiography and autopsy; (3) Thirty-two of 46 cases underwent fetal chromosome analysis, 8 cases (25%) were found to have abnormal chromosome; (4) Five cases were found to have right ventricle and atrium a little bigger than those on the left side, with the unequal condition being the same after birth, but there were no clinical manifestations and they are healthy for the time being; (5) Nine hundred and thirty-six cases were not found with abnormality in this study, but one case was diagnosed with ventricular septal defect after birth, one case was diagnosed with patent ductus arteriosus, one case had atrial septal defect after birth. (1) The detected CHD rate was 4.68% by screening fetal heart with five transverse planes according to Yagel's description of high risk population basis for CHD. The coinciding rate of prenatal diagnosis and autopsy was 93.75%; (2) The sensitivity of detecting fetal heart abnormality is 92%, the specificity is 99

  7. [Diagnosis, evolution and prognosis of prenatally diagnosed suprasellar cysts].

    PubMed

    Di Rocco, F; André, A; Roujeau, T; Selek, L; Ville, Y; Garel, C; Zérah, M

    2016-12-01

    Suprasellar arachnoid cysts (SAC) in children are considered rare, but the incidence is increasing due to the improvement of prenatal diagnosis. We present 15 cases of SAC diagnosed during the antenatal period between 2005 and 2015. The records were reviewed retrospectively by specifying the radiological characteristics, treatment modalities, outcomes, and long-term monitoring. Mean follow-up was 71 months. The forms (SAC-1) accounted for 2 cases (13%) with hydrocephalus. We observed 8 (53%) lower forms (SAC-2) with interpeduncular cistern expansion without hydrocephalus. The 5 (33.5%) remaining patients showed asymmetrical forms (SAC-3). Six patients (40%) were treated by ventriculo-cysto-cisternostomy, 1 by fetoscopy, 1 (6.5%) by ventriculo-peritoneal shunt, 2 (13.5%) by pterional craniotomy, and 6 (40%) were simply followed. The surgical outcomes were initially favorable in 9 cases (100%), 1 patient (13%) had to be re-treated later. Non-operated patients were all type 2 and showed no radiological changes. In the long-term, 1 patient (6.5%) had endocrine disruption, 1 had delayed development, 2 (13.5%) had minor neuropsychological impairments, and 1 had epilepsy. Combined monitoring with prenatal MRI and ultrasound can be used to distinguish three subtypes of SAC. SAC-1 and SAC-3 have an excellent prognosis after treatment in the perinatal period. SAC-2 can benefit from simple monitoring and remain asymptomatic in their majority. This classification allows a better prognosis estimation and better treatment decision.

  8. [Examples of preimplantation genetic diagnosis versus prenatal diagnosis in carriers of genetic abnormalities: advantages and disadvantages].

    PubMed

    Snel, B J; Ypma, T D

    2008-03-29

    Preimplantation genetic diagnosis (PGD) is a method for identifying genetic abnormalities in embryos obtained via in-vitro fertilisation before their implantation. There are many indications for PGD, which offers an alternative to prenatal diagnosis, although each modality has its advantages and drawbacks. In three female patients there were clear indications for PGD: carriage of the gene for myotubular myopathy, a balanced complex chromosomal translocation, and a Robertsonian translocation in the male partner, respectively. The first patient eventually abandoned PGD and chose prenatal diagnosis. She had a total of three abortions. A twin pregnancy with a so-called foetal reduction resulted in the birth of a genetically normal child. The second patient had one spontaneous abortion and subsequently underwent two PGD cycles, resulting in an uncomplicated pregnancy and the delivery of a genetically normal child. The third patient had one genetically normal child and six spontaneous abortions. She then underwent the PGD procedure successfully and is expecting twins; the pregnancy has been uncomplicated. During preconception counselling of couples at high genetic risk, physicians should be aware of PGD as an alternative to prenatal diagnosis.

  9. 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.

  10. Attitude of Reproductive Healthcare Providers to Prenatal Diagnosis in a Low Resource Nigerian Setting

    PubMed Central

    Nwali, Silas Alegu; Amah, Christopher Chim; Nwankwo, Theophilus Ogochukwu; Lawani, Lucky Osaheni; Ozumba, Benjamin Chukwuma

    2017-01-01

    Introduction Prenatal diagnosis comprises all diagnostic modalities aimed at gaining information about the embryo or fetal wellbeing. It enables antenatal care tailored to the individual need(s) of the fetus. Aim To determine the knowledge, practice and prospect of prenatal diagnosis among reproductive health care providers in Abakaliki, Nigeria. Materials and Methods This was a cross-sectional descriptive study in which completely filled self-administered semi-structured questionnaires were retrieved from 182 reproductive healthcare providers at Federal Teaching Hospital, Abakaliki (FETHA). The questionnaires contained 17 items covering the socio-demographic data, knowledge, practice and prospects of prenatal diagnosis among the respondents. Result A total of 179 respondents (98.4%) were aware of the prenatal diagnosis. One hundred and sixty four (90.1%) of the respondents agreed that, prenatal diagnostic services is offered in the study centre and 97% of these respondents cited ultrasound scan as the prenatal diagnostic investigation. While 133 respondents (73.1%) would allow parents to decide the next line of action after due counseling for the diagnosis of a condition not compatible with extrauterine life was made, 23(12.6%) of the respondents would offer termination of the pregnancy. Among the respondents, 173(95.1%) would encourage prenatal diagnosis at the study centre and 153(88.4%) of the 173 respondents would do so by educating the populace on the benefits of the procedure. However, 2(1.1%) of the respondent would not encourage the practice of prenatal diagnosis in FETHA citing adverse effects on the woman and her fetus. Conclusion Reproductive healthcare providers in Abakaliki have a high level of awareness and favorable disposition to prenatal diagnosis. However, prenatal diagnosis is still rudimentary in this environment. PMID:28384937

  11. Attitude of Reproductive Healthcare Providers to Prenatal Diagnosis in a Low Resource Nigerian Setting.

    PubMed

    Ajah, Leonard Ogbonna; Nwali, Silas Alegu; Amah, Christopher Chim; Nwankwo, Theophilus Ogochukwu; Lawani, Lucky Osaheni; Ozumba, Benjamin Chukwuma

    2017-02-01

    Prenatal diagnosis comprises all diagnostic modalities aimed at gaining information about the embryo or fetal wellbeing. It enables antenatal care tailored to the individual need(s) of the fetus. To determine the knowledge, practice and prospect of prenatal diagnosis among reproductive health care providers in Abakaliki, Nigeria. This was a cross-sectional descriptive study in which completely filled self-administered semi-structured questionnaires were retrieved from 182 reproductive healthcare providers at Federal Teaching Hospital, Abakaliki (FETHA). The questionnaires contained 17 items covering the socio-demographic data, knowledge, practice and prospects of prenatal diagnosis among the respondents. A total of 179 respondents (98.4%) were aware of the prenatal diagnosis. One hundred and sixty four (90.1%) of the respondents agreed that, prenatal diagnostic services is offered in the study centre and 97% of these respondents cited ultrasound scan as the prenatal diagnostic investigation. While 133 respondents (73.1%) would allow parents to decide the next line of action after due counseling for the diagnosis of a condition not compatible with extrauterine life was made, 23(12.6%) of the respondents would offer termination of the pregnancy. Among the respondents, 173(95.1%) would encourage prenatal diagnosis at the study centre and 153(88.4%) of the 173 respondents would do so by educating the populace on the benefits of the procedure. However, 2(1.1%) of the respondent would not encourage the practice of prenatal diagnosis in FETHA citing adverse effects on the woman and her fetus. Reproductive healthcare providers in Abakaliki have a high level of awareness and favorable disposition to prenatal diagnosis. However, prenatal diagnosis is still rudimentary in this environment.

  12. Haemophilia: strategies for carrier detection and prenatal diagnosis.

    PubMed Central

    Peake, I. R.; Lillicrap, D. P.; Boulyjenkov, V.; Briet, E.; Chan, V.; Ginter, E. K.; Kraus, E. M.; Ljung, R.; Mannucci, P. M.; Nicolaides, K.

    1993-01-01

    In 1977 WHO published in the Bulletin a Memorandum on Methods for the Detection of Haemophilia Carriers. This was produced following a WHO/WFH (World Federation of Haemophilia) Meeting of Investigators in Geneva in November 1976, and has served as a valuable reference article on the genetics of haemophilia. The analyses discussed were based on phenotypic assessment, which, at that time, was the only procedure available. The molecular biology revolution in genetics during the 1980s made enormous contributions to our understanding of the molecular basis of the haemophilias and now permits precise carrier detection and prenatal diagnosis. WHO and WFH held a joint meeting on this subject in February 1992 in Geneva. This article is the result of these discussions. PMID:8324863

  13. Epsilon Haemoglobin Specific Antibodies with Applications in Noninvasive Prenatal Diagnosis

    PubMed Central

    Sørensen, Morten Dræby; Gonzalez Dosal, Regina; Jensen, Kim Bak; Christensen, Britta; Kølvraa, Steen; Jensen, Uffe Birk; Kristensen, Peter

    2009-01-01

    Invasive procedures for prenatal diagnosis are associated with increased risk of abortion; thus, development of noninvasive procedures would be beneficial. Based on the observation that embryonic nucleated red blood cell (NRBC) crosses the placenta and enters the circulation of pregnant women, the ability to identify such cell would allow development of such procedures. Identification of NRBCs in blood samples would be possible provided that specific antibodies are available. Here we have isolated recombinant antibodies using phage display. From the panel of antibody fragments specifically recognising ε-Hb, one was chosen for further characterization, DAb1. DAb1 binds to ε-Hb both in Western blots and immunocytochemistry. Several ε-Hb positive cells were detected in a blood sample taken as postchorionic villus sampling (CVS). To evaluate the sensitivity of the method, K562 cells (which express ε-Hb) were spiked in a blood sample followed by staining in solution and FACS analysis. PMID:19636421

  14. Prenatal diagnosis of thanatophoric dysplasia in the second trimester: ultrasonography and other diagnostic modalities.

    PubMed

    Sahinoglu, Zeki; Uludogan, Mehmet; Gurbuz, Ayse; Karateke, Ates

    2003-11-01

    Thanatophoric dysplasia is the most common type of neonatal lethal osteochondrodysplasias, with an estimated frequency of nearly of 1 in 20,000 births. It is a disorder characterized by extremely short ribs, tubular bones and macrocephaly. The prenatal diagnosis of thanatophoric dysplasia has been well established by ultrasonography in the second trimester; however it is not always possible to differentiate the thanatophoric dysplasia fetuses from the others with skeletal dysplasias like fibrochondrogenesis or atelosteogenesis by ultrasonography. Recently, mutations in the fibroblast growth factor receptor 3 gene, located on the short arm of chromosome 4 have been identified as a cause of thanatophoric dysplasia. In this article we described the prenatal diagnosis of two fetuses with thanatophoric dysplasia at 18 and 24 weeks of gestation by ultrasonography. Postpartum radiological and histological analysis confirmed our prenatal diagnosis. Our purpose was to remind the differential prenatal diagnosis with other skeletal dysplasias and new prenatal diagnostic modalities.

  15. Screening of potential biomarkers for prenatal diagnosis of trisomy 21.

    PubMed

    Ma, Ke; Li, Feng; Yu, Yang; Li, Haibo

    2017-05-01

    We aimed to identify key genes located on chromosome 21 as potential biomarkers for prenatal diagnosis of trisomy 21 (Ts21). The microarray data of GSE48051, including 10 cultivated amniocyte samples with Ts21 and 9 controls with normal euploid constitution, was obtained from Gene Expression Omnibus database. The differentially expressed genes (DEGs) in cultivated amniocyte samples with Ts21 compared to normal controls were screened using limma package. Then, we performed GO enrichment analysis using DAVID and chromosomal location of DEGs based on the information of the University of California Santa Cruz (UCSC) Genome Browser Database. Finally, protein-protein interaction (PPI) network analysis was performed using STRING. Total 155 DEGs in cultivated amniocyte samples with Ts21 were identified, including 89 up- and 66 down-regulated DEGs. The over-represented GO terms of DEGs were mainly related with apoptosis, programmed cell death and cell death. In total, 13 DEGs were located on chromosome 21, thereinto, only 6 DEGs were included into the PPI network, including superoxide dismutase 1 (SOD1), phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), downstream neighbour of SON (DONSON), ATP synthase, H + transporting, mitochondrial F1 complex, O subunit (ATP5O), chromatin assembly factor 1, subunit B (p60) (CHAF1B) and proteasome (prosome, macropain) assembly chaperone 1 (PSMG1). Our results suggest that SOD1, GART, DONSON, ATP5O, CHAF1B and PSMG1 may play important roles in the pathogenesis of Down syndrome and may serve as potential biomarkers for prenatal diagnosis of Ts21.

  16. Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing

    PubMed Central

    Liao, Can; Yin, Ai-hua; Peng, Chun-fang; Fu, Fang; Yang, Jie-xia; Li, Ru; Chen, Yang-yi; Luo, Dong-hong; Zhang, Yong-ling; Ou, Yan-mei; Li, Jian; Wu, Jing; Mai, Ming-qin; Hou, Rui; Wu, Frances; Luo, Hongrong; Li, Dong-zhi; Liu, Hai-liang; Zhang, Xiao-zhuang; Zhang, Kang

    2014-01-01

    Massively parallel sequencing (MPS) of cell-free fetal DNA from maternal plasma has revolutionized our ability to perform noninvasive prenatal diagnosis. This approach avoids the risk of fetal loss associated with more invasive diagnostic procedures. The present study developed an effective method for noninvasive prenatal diagnosis of common chromosomal aneuploidies using a benchtop semiconductor sequencing platform (SSP), which relies on the MPS platform but offers advantages over existing noninvasive screening techniques. A total of 2,275 pregnant subjects was included in the study; of these, 515 subjects who had full karyotyping results were used in a retrospective analysis, and 1,760 subjects without karyotyping were analyzed in a prospective study. In the retrospective study, all 55 fetal trisomy 21 cases were identified using the SSP with a sensitivity and specificity of 99.94% and 99.46%, respectively. The SSP also detected 16 trisomy 18 cases with 100% sensitivity and 99.24% specificity and 3 trisomy 13 cases with 100% sensitivity and 100% specificity. Furthermore, 15 fetuses with sex chromosome aneuploidies (10 45,X, 2 47,XYY, 2 47,XXX, and 1 47,XXY) were detected. In the prospective study, nine fetuses with trisomy 21, three with trisomy 18, three with trisomy 13, and one with 45,X were detected. To our knowledge, this is the first large-scale clinical study to systematically identify chromosomal aneuploidies based on cell-free fetal DNA using the SSP and provides an effective strategy for large-scale noninvasive screening for chromosomal aneuploidies in a clinical setting. PMID:24799683

  17. Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing.

    PubMed

    Liao, Can; Yin, Ai-hua; Peng, Chun-fang; Fu, Fang; Yang, Jie-xia; Li, Ru; Chen, Yang-yi; Luo, Dong-hong; Zhang, Yong-ling; Ou, Yan-mei; Li, Jian; Wu, Jing; Mai, Ming-qin; Hou, Rui; Wu, Frances; Luo, Hongrong; Li, Dong-zhi; Liu, Hai-liang; Zhang, Xiao-zhuang; Zhang, Kang

    2014-05-20

    Massively parallel sequencing (MPS) of cell-free fetal DNA from maternal plasma has revolutionized our ability to perform noninvasive prenatal diagnosis. This approach avoids the risk of fetal loss associated with more invasive diagnostic procedures. The present study developed an effective method for noninvasive prenatal diagnosis of common chromosomal aneuploidies using a benchtop semiconductor sequencing platform (SSP), which relies on the MPS platform but offers advantages over existing noninvasive screening techniques. A total of 2,275 pregnant subjects was included in the study; of these, 515 subjects who had full karyotyping results were used in a retrospective analysis, and 1,760 subjects without karyotyping were analyzed in a prospective study. In the retrospective study, all 55 fetal trisomy 21 cases were identified using the SSP with a sensitivity and specificity of 99.94% and 99.46%, respectively. The SSP also detected 16 trisomy 18 cases with 100% sensitivity and 99.24% specificity and 3 trisomy 13 cases with 100% sensitivity and 100% specificity. Furthermore, 15 fetuses with sex chromosome aneuploidies (10 45,X, 2 47,XYY, 2 47,XXX, and 1 47,XXY) were detected. In the prospective study, nine fetuses with trisomy 21, three with trisomy 18, three with trisomy 13, and one with 45,X were detected. To our knowledge, this is the first large-scale clinical study to systematically identify chromosomal aneuploidies based on cell-free fetal DNA using the SSP and provides an effective strategy for large-scale noninvasive screening for chromosomal aneuploidies in a clinical setting.

  18. [The role of fetal echocardiography in the prenatal diagnosis of aneuploidy based upon prenatally diagnosed patau syndrome fetuses (case analysis)].

    PubMed

    Janiak, Katarzyna; Kaczmarek, Piotr; Krasoń, Aneta; Nowicki, Grzegorz; Piotrowicz, Małgorzata; Respondek-Liberska, Maria

    2002-07-01

    Assessment of usefulness of the fetal echocardiography and genetic sonography in prenatal diagnosis trisomy 13 (retrospective analysis). Between 1994-1999 at the Department for Diagnosis of Congenital Malformation at the Institute of PPMH in 11 fetuses with Patau Syndrome ultrasound and echocardiography examination were performed. In our study the most of cases come from low risk of pregnant women. Fetal heart defect was the most common anomaly diagnosed prenatally in fetuses with Patau Syndrome (7/11), the second one were central nervous system anomalies (6/11) and genitourinary system anomalies (6/11).

  19. Prenatal diagnosis of beta-thalassaemia by chorionic villous sampling.

    PubMed

    Tasleem, Samina; Tasleem, Huma; Siddiqui, Mehfooz Ahmed; Adil, Malik Muhammad; Rashid, Yasmin

    2007-11-01

    To establish intrauterine diagnosis of thalassaemia major in couples with thalassaemia trait by chorionic villous sampling. A total of 60 couples with children suffering from transfusion dependent beta-thalassaemia or couples who were known carriers of beta-thalassaemia were included in this study. The standard procedure was followed for the collection of samples which was finally transferred in appropriate medium to Armed Forces Institute of Pathology Rawalpindi for detection of thalassaemia mutation. After DNA analysis of the submitted samples, no thalassaemia mutation was detected in the foetus in 24 cases. In 8 cases foetus were heterozygote for thalassaemia having a single mutation. In 28 cases, foetus were homozygous for beta-thalassaemia. Appropriate and extensive screening, accurate detection and counseling of at risk couples, along with antenatal diagnosis is a promising strategy for the reduction of mortality and morbidity from thalassaemia in countries where it is prevalent. Based on these results, it can be concluded that prenatal diagnosis of beta-thalassaemia for prevention can be done using chorionic villous sampling.

  20. Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome.

    PubMed

    Kehrer, Christina; Hoischen, Alexander; Menkhaus, Ralf; Schwab, Eva; Müller, Andreas; Kim, Sarah; Kreiß, Martina; Weitensteiner, Valerie; Hilger, Alina; Berg, Christoph; Geipel, Anne; Reutter, Heiko; Gembruch, Ulrich

    2016-10-01

    Simpson-Golabi-Behmel (SGBS) syndrome type 1 and type 2 represent rare X-linked prenatal overgrowth disorders. The aim of our study is to describe the prenatal sonographic features as well as the genetic work-up. Retrospective analysis of four cases with a pre- or postnatal diagnosis of SGBS in a single tertiary referral center within a period of 4 years. In the study period, four male fetuses with SGBS were detected. The final diagnosis was made prenatally in three cases. In all cases the second trimester anomaly scan revealed left sided congenital diaphragmatic hernia (CDH) with additional anomalies; three fetuses with SGBS type 1 showed fetal overgrowth. In two of these, whole exome sequencing showed a possible frameshift mutation and a point mutation in the gene GPC3, respectively. In the third case, multiplex ligation-dependent probe amplification (MLPA) revealed a hemizygous duplication of exon 3-7 in the gene GPC3. In the fourth case, SGBS type 2 was confirmed by array comparative genomic hybridization (CGH) of amniotic fluid cells showing a deletion of the gene OFD1. We could demonstrate, that in the presence of a CDH, syndromes of the fetus can be increasingly differentiated by detailed sonography followed by a selective and graded molecular diagnostic using microarray techniques and whole exome sequencing. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  1. Does prenatal diagnosis modify neonatal treatment and early outcome of children with esophageal atresia?

    PubMed

    Garabedian, Charles; Sfeir, Rony; Langlois, Carole; Bonnard, Arnaud; Khen-Dunlop, Naziha; Gelas, Thomas; Michaud, Laurent; Auber, Fréderic; Gottrand, Fréderic; Houfflin-Debarge, Véronique

    2015-03-01

    Our study aimed at (1) evaluating neonatal treatment and outcome of neonates with either a prenatal or a postnatal diagnosis of esophageal atresia (EA) and (2) analyzing the impact of prenatal diagnosis on outcome based on the type of EA. We conducted a population-based study using data from the French National Register for infants with EA born from 2008-2010. We compared prenatal, maternal, and neonatal characteristics among children with prenatal vs postnatal diagnosis and EA types I and III. We defined a composite variable of morbidity (anastomotic esophageal leaks, recurrent fistula, stenosis) and death at 1 year. Four hundred sixty-nine live births with EA were recorded with a prenatal diagnosis rate of 24.3%; 82.2% of EA type I were diagnosed prenatally compared with 17.9% of EA type III (P < .001). Transfer after birth was lower in case of prenatal diagnosis (25.6% vs 82.5%; P < .001). The delay between birth and first intervention did not differ significantly among groups. The defect size was longer among the prenatal diagnosis group (2.61 vs 1.48 cm; P < .001). The composite variables were higher in prenatal diagnosis subset (44% vs 27.6%; P = .003) and in EA type I than in type III (58.1% vs 28.3%; P < .001). Despite the excellent survival rate of EA, cases with antenatal detection have a higher morbidity rate related to the EA type (type I and/or long gap). Even though it does not modify neonatal treatment and the 1-year outcome, prenatal diagnosis allows antenatal parental counselling and avoids postnatal transfers. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. A qualitative description of receiving a diagnosis of clefting in the prenatal or postnatal period.

    PubMed

    Nusbaum, Rachel; Grubs, Robin E; Losee, Joseph E; Weidman, Carla; Ford, Matthew D; Marazita, Mary L

    2008-08-01

    This study investigated the experience of receiving a diagnosis of clefting in the prenatal or postnatal period. Open-ended interviews were conducted with 20 parents of children with cleft lip with or without cleft palate. Interviews were transcribed and analyzed using a qualitative descriptive approach with an emphasis on thematic analysis. Common themes emerged from participants' responses regarding the delivery of the diagnosis, preparation for the birth of their child, advantages and disadvantages of prenatal diagnosis, use of the Internet, views on abortion and genetic testing, among other issues. All participants in the prenatal group indicated they were satisfied they learned of the cleft before the birth of their child. Some participants in the postnatal group would rather have received the diagnosis prenatally, while others were content with learning of the diagnosis in the delivery room. Greater awareness of the parental experience of the timing of receiving a cleft diagnosis may assist health care professionals in providing care for these families.

  3. [Does prenatal diagnosis modify neonatal management and early outcome of children with esophageal atresia type III?].

    PubMed

    Garabedian, C; Sfeir, R; Langlois, C; Bonnard, A; Khen-Dunlop, N; Gelas, T; Michaud, L; Auber, F; Piolat, C; Lemelle, J-L; Fouquet, V; Habonima, É; Becmeur, F; Polimerol, M-L; Breton, A; Petit, T; Podevin, G; Lavrand, F; Allal, H; Lopez, M; Elbaz, F; Merrot, T; Michel, J-L; Buisson, P; Sapin, E; Delagausie, P; Pelatan, C; Gaudin, J; Weil, D; de Vries, P; Jaby, O; Lardy, H; Aubert, D; Borderon, C; Fourcade, L; Geiss, S; Breaud, J; Pouzac, M; Echaieb, A; Laplace, C; Gottrand, F; Houfflin-Debarge, V

    2015-11-01

    Evaluate neonatal management and outcome of neonates with either a prenatal or a post-natal diagnosis of EA type III. Population-based study using data from the French National Register for EA from 2008 to 2010. We compared children with prenatal versus post-natal diagnosis in regards to prenatal, maternal and neonatal characteristics. We define a composite variable of morbidity (anastomotic esophageal leaks, recurrent fistula, stenosis) and mortality at 1 year. Four hundred and eight live births with EA type III were recorded with a prenatal diagnosis rate of 18.1%. Transfer after birth was lower in prenatal subset (32.4% versus 81.5%, P<0.001). Delay between birth and first intervention was not significantly different. Defect size (2cm vs 1.4cm, P<0.001), gastrostomy (21.6% versus 8.7%, P<0.001) and length in neonatal unit care were higher in prenatal subset (47.9 days versus 33.6 days, P<0.001). The composite variables were higher in prenatal diagnosis subset (38.7% vs 26.1%, P=0.044). Despite the excellent survival rate of EA, cases with antenatal detection have a higher morbidity related to the EA type (longer gap). Even if it does not modify neonatal management and 1-year outcome, prenatal diagnosis allows antenatal parental counseling and avoids post-natal transfer. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  4. [Cocaine and trisomy 8 associated with prenatal diagnosis of corpus callosum agenesis].

    PubMed

    Gonzales, E; Caeymaex, L; Aboura, A; Vial, M; De Laveaucoupet, J; Labrune, P; Tachdjian, G

    2005-12-01

    We report the case of a newborn presenting an agenesis of corpus callosum (ACC) discovered in the prenatal period and initially related to cocaine exposure during the first trimester of gestation. The cytogenetic analysis revealed a trisomy 8 mosaicism. The putative role of prenatal cocaine exposure and mosaicism for chromosome 8 in ACC are discussed. This report emphasizes the specific analysis of chromosome 8 by using fluorescence in situ hybridization as a complement to routine cytogenetic analysis for prenatal diagnosis of ACC.

  5. Is a prenatal diagnosis detrimental to the survival of a fetus with trisomy 18?

    PubMed

    Morris, Joan K

    2016-04-01

    As trisomy 18 is so rare any individual study is unlikely to have a sufficient number of cases to examine whether a prenatal diagnosis is advantageous or detrimental to the survival of these infants. Estimates of survival in prenatally diagnosed live births have been obtained by combining data from individual hospitals, whereas estimates of survival in postnatally diagnosed live births have been obtained from large population studies linking cytogenetic registers to national mortality registers. The estimates of survival are often lower in the prenatally diagnosed series. However, comparing estimates from these two different sources is not valid; both sources are subject to different biases. At present, there is insufficient information available to indicate that receiving a prenatal diagnosis of trisomy 18 is detrimental to the survival of a foetus with trisomy 18. A prenatal diagnosis does enable the parents and clinicians time to reach a consensus on how best to care for the baby.

  6. Prenatal diagnosis of isolated right pulmonary agenesis using sonography alone: case study and systematic literature review.

    PubMed

    Meller, Cesar H; Morris, R Katie; Desai, Tarak; Kilby, Mark D

    2012-12-01

    Pulmonary agenesis is a rare congenital anomaly, estimated to complicate around 1 per 15,000 pregnancies, in which there is complete absence or severe hypoplasia of one or both lungs, frequently associated with other abnormalities. A prospective prenatal diagnosis is a challenge, and a substantial proportion of cases are diagnosed by fetal magnetic resonance imaging, postnatal computed tomography, or postmortem. Thus, there are only a few reported cases of prenatal diagnosis in the literature. We report the prenatal diagnosis of isolated right lung agenesis diagnosed with sonography alone at a relatively early gestational age. We also present a systematic review of the literature for this condition to accompany this case study.

  7. Chromosomal mosaicism of extraembryonic cells detected by prenatal diagnosis

    SciTech Connect

    Zolotukhina, T.V.; Shilova, N.V.

    1995-09-01

    Data on detection of chromosomal mosaicism in amniotic cells and chorionic villi obtained by prenatal cytogenetic diagnosis are presented. The frequency of chromosomal mosaicism in preparations of amniotic fluid cell culture was 2.6% (6 out of 226), and that in {open_quotes}direct{close_quotes} villus preparations was 1.6% (13 out of 774). The necessity to perform an additional analysis of other fetal cells or neonatal lymphocytes to specify the diagnosis was shown. The analysis of the outcome of pregnancies during which chromosomal mosaicism in the extraembryonic cells was detected indicates that these women form a high-risk group, both genetically and obstetrically; in only 8 out of 19 cases did pregnancies end in normal deliveries at term; in three cases, spontaneous abortions occurred at 16-31 weeks of gestation; in three cases, the pregnancies were terminated due to fetal chromosomal aberrations in nonmosaic form; the outcome of pregnancy in five cases was preterm delivery of an underweight newborn. 26 refs., 1 tab.

  8. Spontaneous pregnancy outcome after prenatal diagnosis of anencephaly.

    PubMed

    Jaquier, M; Klein, A; Boltshauser, E

    2006-08-01

    Parents are usually told that many anencephalic offspring die in utero or soon after delivery, and many obstetricians offer elective termination of the pregnancy. Following the personal experience of the first author, a personal website was created with the intention of providing information and exchanging views with other parents confronted with a prenatal diagnosis of anencephaly. Data were collected from 211 pregnancies where the parents opted not to terminate pregnancy. These data revealed that polyhydramnios was a feature in 56 (26%) pregnancies, death in utero in 15 (7%) pregnancies, 72 (34%) babies were born prematurely (<37 weeks of gestation), 113 (53%) at term and 21 (10%) after 42 weeks. Stillbirth, presumably resulting from intrapartum death, occurred in 43 (20%) deliveries. One hundred and fifty-three (72%) of anencephalic offspring were liveborn, of those, 103 (67%) died within 24 hours but 6/211 survived 6 or more days (maximum 28 days). Continuation of pregnancy after a diagnosis of anencephaly is medically safe and should be considered as an option.

  9. Pre-natal counselling and diagnosis in Down's syndrome.

    PubMed

    Papp, Z

    1973-01-01

    Today Down's syndrome is recognizable on the basis of its clinical c haracteristics in infants. According to present knowledge, Down's syndr ome can be classified cytogenetically into 4 groups: regular trisomy, translocational trisomy, mosaic forms and double trisomies. Knowledge of the karyotype is used in genetic counselling for further prevention of Down's syndrome in unborn fetuses. Prenatal chromosome analyses, a form of intrauterine diagnosis, has been used in Hungary since 1968. The average incidence of Down's syndrome has been estimated at 1.5:1000 among newborns. The mother's age and genetic deviations are determinant s in whether or not the syndrome will occur. The risk of Down's syndrome increases from 1 per 1000 in mothers under 30 to 10-20 per 1000 in mothers over 45. Since risk increases with the mother's age amniocen tesis should be routinely performed in pregnancies of older mothers. In the case of trisomy verified by intrauterine diagnosis, termination of pregnancy is advised. If population cytogenetic investigations are practiced, the carriers of the balanced translocation will be revealed and within a few years there will be only 3 indications for amniocentesis: 1) in cases of mother's advanced age, 2) in cases of bala nced translocation carrier and 3) in cases of a previously affected chil d disregarding the parental karyotypes. The expected risk of Down's syn drome predictable from available data if higher than 1-5% justifies intr auterine chromosome analysis.

  10. Prenatal diagnosis of the Meckel-Gruber syndrome from 11th to 20th gestational week.

    PubMed

    Mittermayer, C; Lee, A; Brugger, P C

    2004-08-01

    The Meckel-Gruber syndrome (MKS) is a rare autosomal recessive disorder that is characterized by typical sonographical findings: occipital encephalocele, postaxial polydactyly and cystic enlargement of the kidneys. Its recurrence risk of 25 % demands an exact diagnosis. Retrospective analysis of the sonographic characteristics in relation to the gestational age in eight cases with the pathologic diagnosis of MKS. The sonographic characteristics depend on the gestational age. The classic trias was solely seen in the case diagnosed before 14 (th) week of gestation. In the other seven cases, diagnosed between the 17 (th) and 20 (th) week of gestational age, only two of three characteristic signs of MKS could be visualised by US. Polydactyly was missed by ultrasound in all seven cases due to the marked oligohydramnion. The Meckel-Gruber syndrome can be confidently detected and diagnosed by sonography at the 11th to 14th gestational week. Later in the pregnancy, severe oligohydramnion makes it more difficult to establish the diagnosis by US alone. In these cases a meticulous autopsy is necessary to establish the diagnosis of MKS.

  11. Sonographic diagnosis of Obstructed Hemivagina and Ipsilateral Renal Anomaly Syndrome: a report of two cases

    PubMed Central

    Ng, Stanley

    2015-01-01

    Abstract Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is a rare urogenital anomaly. Patients typically present at puberty, shortly after menarche with increasing pelvic pain, dysmenorrhea and pelvic mass. There may be a known history of unilateral renal agenesis. Diagnosis can usually be established by ultrasound or magnetic resonance imaging. Resection of the vaginal septum is the treatment of choice. Early diagnosis and treatment can relieve symptoms, prevent complications and preserve fertility. We present two cases of OHVIRA syndrome diagnosed by ultrasound to promote recognition of this rare but important condition. PMID:28191231

  12. Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy.

    PubMed

    Wang, Huanhuan; Xu, Yan; Liu, Xiaoqing; Wang, Lei; Jiang, Wenting; Xiao, Bing; Wei, Wei; Chen, Yingwei; Ye, Weiping; Ji, Xing

    2017-04-01

    The objective of this study is to report 6-year clinical prenatal diagnosis experience of Duchenne muscular dystrophy (DMD)-affected families evaluated at a single prenatal diagnosis center in China and establish a reliable and rational prenatal diagnosis procedure for DMD families. The prenatal diagnosis data of 146 at-risk pregnancies in 131 DMD families referred to our center from 2010 to 2016 were retrospectively reviewed. The mutation detection rate of the probands was greater than 99%. In the 131 families, 50 mothers showed negative results during carrier testing, and de novo exon deletions arose in 51.1% of the probands. Of the 146 pregnancies, 91 were male fetuses, 34 of which were affected. Germline mosaicism was identified three times in this cohort, and recombination of the DMD gene was detected in nine cases. Accurate genetic diagnosis of the proband is important for preventing recurrence in at-risk families. The present results demonstrate the importance of considering maternal germline mosaicism in the genetic assessment. Prenatal diagnosis should be suggested to the parent with a DMD proband whether carrier testing found the causative mutation in the mother's blood or not. Finally, we have developed a prenatal diagnosis algorithm for dystrophinopathies that combines multiplex ligation-dependent probe amplification, quantitative PCR, sequencing and linkage analyses. © 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

  13. 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.

  14. 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.

  15. 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

  16. [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.

  17. Prenatal diagnosis and management of fetal xerocytosis associated with ascites.

    PubMed

    Sánchez, Myriam; Palacio, Montse; Borrell, Antoni; Carmona, Francesc; Cobo, Teresa; Coll, Oriol; Cararach, Vicenç

    2005-01-01

    To discuss the prenatal diagnosis and management of fetal xerocytosis associated with ascites. A 29-year-old woman with hereditary xerocytosis was found to present a fetus with severe ascites on the 20-week scan. Cordocentesis showed mild anemia and blood transfusion was discarded. Ascites worsened and 2 weeks later a new cordocentesis showed lower hematocrit values. Blood transfusion was performed but ascites remained unchanged. Cordocentesis was repeated at 28 weeks and albumin was transfused. Fetal hemoglobin was within the normal range. Peak systolic velocity of the middle cerebral artery remained normal and correctly predicted mild anemia. Expectant management was followed. An elective cesarean section was performed at 32 weeks because of breech presentation and preterm labor which did not respond to aggressive tocolysis. A female newborn weighing 2,615 g was delivered and required paracenteses and exchange transfusion. The newborn was discharged at 4 weeks of life and at 2 months of age, the ascites resolved completely. The mechanism of development of ascites in fetal xerocytosis remains unanswered. As ascites does not seem to be related to fetal anemia or hypoalbuminemia, does not substantially change after blood transfusion and tends to resolve in late gestation, a conservative management is reasonable if fetal anemia is not severe. Copyright (c) 2005 S. Karger AG, Basel.

  18. Prenatal diagnosis of open spina bifida in Emilia-Romagna.

    PubMed

    Ghi, Tullio; Cocchi, Guido; Conti, Letizia; Pacella, Giuseppina; Youssef, Aly; Rizzo, Nicola; Pilu, Gianluigi

    2015-01-01

    To report recent data on the epidemiology of pregnancies affected by open spina bifida in the Emilia-Romagna region of Italy. All cases of open spina bifida diagnosed in the Emilia-Romagna region between 2001 and 2011 and reported to the IMER regional registry were included in the study group. The pregnancy outcome was retrospectively assessed. In the study period out of 390,978 babies born in Emilia-Romagna 126 cases of open spina bifida were reported to the IMER registry, resulting in a global prevalence of 3.2 per 10,000 births. Prenatal diagnosis was achieved in the vast majority of these cases (105/126; 83.3%) and in a great proportion of those women (85/105; 80.9%) who opted for termination of pregnancy. In a wide region of northern Italy where ultrasound anomaly scan is routinely offered to the general population, the vast majority of cases of open spina bifida are diagnosed antenatally and terminated electively. © 2015 S. Karger AG, Basel.

  19. Antenatal Sonographic Diagnosis of Pharyngeal Teratoma: Our Experience of a Rare Case with Review of the Literature

    PubMed Central

    Varras, M.; Akrivis, Ch.; Plis, Ch.; Tsoukalos, G.

    2009-01-01

    Background. Teratomas are the most common tumors. They are usually localized in the sacrococcygeal area, while the pharyngeal localization is very rare. The number of cases of stomatopharyngeal teratomas detected prenatally via sonography is very small. Case Report. We present the case of a 24-year-old primipara at 18 weeks' gestation, that at the routine ultrasound scan, the fetus was found with an echogenic mass, filling the stomatopharyngeal cavity and protruding from the mouth. Other abnormalities were not found. Termination of pregnancy was achieved using misoprostol. A female stillborn fetus with a weight of 250 g and length of 25.5 cm was delivered. The postmortem and pathologic examination confirmed the diagnosis. Conclusion. Pharyngeal teratomas can be diagnosed with the use of ultrasounds in utero facilitating parents' counseling in early time. PMID:19936119

  20. 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.

  1. First trimester sonographic diagnosis of ectopia cordis: a case report and review of the literature.

    PubMed

    Hannoun, Antoine; Usta, Ihab M; Sawaya, Fadi; Nassar, Anwar H

    2011-06-01

    A case of ectopia cordis (EC) with gastroschisis in a 27-year-old primigravida was diagnosed at 10(3/7) weeks of gestation. The pregnancy was terminated by suction dilatation and curettage. With the increasing use of first trimester ultrasonography, early detection of fetal abnormalities is becoming more frequent. We review other published cases of EC detected in the first trimester and discuss the possible advantages of early diagnosis including options of termination at earlier gestational ages which might decrease the physical and psychological trauma on some patients.

  2. Prenatal diagnosis in Sweden 2011 to 2013-a register-based study.

    PubMed

    Petersson, Kerstin; Lindkvist, Marie; Persson, Margareta; Conner, Peter; Åhman, Annika; Mogren, Ingrid

    2016-11-22

    Prenatal diagnosis involves methods used in early pregnancy as either screening tests or diagnostic methods. The aims of the study were to i) investigate guidelines on prenatal diagnosis in the counties of Sweden, ii) investigate uptake of prenatal diagnosis, and iii) background characteristics and pregnancy outcomes in relation to different prenatal diagnostic methods. A retrospective cross-sectional study using data from the Swedish Pregnancy Register 2011 to 2013 (284,789 pregnancies) was performed. Additionally, guidelines on prenatal diagnosis were collected. Biostatistical and epidemiological analyses were performed including calculation of odds ratios (OR) and their 95% confidence intervals in univariate and multivariate logistic regression analyses. The national uptake of routine ultrasound examination, Combined Ultrasound and Biochemical test (CUB), Amniocentesis (AC) and Chorionic Villus Sampling (CVS) were 97.6, 33.0, 2.6 and 1.1%, respectively. From 2012, 6/21 counties offered CUB test to all pregnant women, nine counties at specific indications, and five counties did not offer CUB at all. Advanced maternal age demonstrated the highest impact on uptake of prenatal diagnosis. Further, university educational level in relation to lower educational level was associated with an increased likelihood of undergoing CUB (OR 2.30, 95% CI 2.26-2.35), AC (OR 1.54, 95% CI 1.46-1.63) and CVS (OR 2.68, 95% CI 2.44-2.93). Offers of prenatal diagnosis varied considerably between counties resulting in unequal access to prenatal diagnosis for pregnant women. The intentions of the Swedish Health and Medical Services Act stating equal care for all, was thus not fulfilled.

  3. 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

  4. Antenatal Diagnosis of Iniencephaly: Sonographic and MR Correlation: A Case Report

    PubMed Central

    Sainani, Nisha I.; Karnik, Alka S.; Mohanty, Prita H.; Lawande, Malini A.; Patkar, Deepak P.; Sinha, Shweta

    2007-01-01

    Iniencephaly is an uncommon and fatal neural tube defect involving the occiput and inion, this occurs together with rachischisis of the cervical and thoracic spine, and retroflexion of the head. We report the ultrasound (US) and magnetic resonance (MR) imaging findings of a case of iniencephaly with clubfeet and arthrogryposis. The diagnosis of iniencephaly is easy to make on ultrasound due to the typical star-gazing fetus. However, the details of the fetal brain and spinal cord may not be adequately delineated on US. We found MR imaging to be superior for depicting central nervous system abnormalities. MR imaging has evolved as an imaging modality and it is complementary to fetal US, yet US remains the screening modality of choice. PMID:17673848

  5. 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.

  6. [Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results].

    PubMed

    Jedrzejowska, Maria; Zimowski, Janusz; Wiszniewski, Wojciech; Sielska, Danuta; Bal, Jerzy; Mazurczak, Tadeusz; Hausmanowa-Petrusewicz, Irena; Zaremba, Jacek

    2004-01-01

    Proximal spinal muscular atrophy of childhood and adolescence (SMA) is a genetic autosomal recessive disease. Caused in 96.5% by deletion in the SMN1 gene. Owing to the homogeneity of the molecular defect. Secondary prophylaxis can readily be offered to families at risk of SMA. Prenatal diagnosis of SMA was carried out in a group of 50 families. Which were divided into two subgroups: with high and relatively low genetic risk of SMA. In all, 55 prenatal tests were performed in the period 1998-2003. In the first group including 45 families at high genetic risk, 9 of the 50 tests were positive (18%). The diagnosis of SMA was tentative in 7 cases from this group and it was based only on the clinical picture (the affected children are not alive, therefore DNA samples are not available). Prenatal examination in 1 of these 7 families showed the SMA genotype. In the second subgroup including 5 families with relatively low genetic risk of SMA in none of the studies was there a biallelic deletion of exon 7 in the SMNI gene. Mainly parents of children with a severe form of SMA and having no healthy offspring asked for prenatal examination (73% of the families). Prenatal diagnosis could be offered to families even if the diagnosis of SMA was not genetically verified. The negative result should he then interpreted individually. Until the carrier test will not he introduced to routine procedures. prenatal diagnosis can be also offered to families at relatively low risk of SMA.

  7. Prenatal diagnosis of transposition of the great arteries over a 20-year period: improved but imperfect.

    PubMed

    Escobar-Diaz, M C; Freud, L R; Bueno, A; Brown, D W; Friedman, K G; Schidlow, D; Emani, S; Del Nido, P J; Tworetzky, W

    2015-06-01

    To evaluate temporal trends in the prenatal diagnosis of transposition of the great arteries with intact ventricular septum (TGA/IVS) and its impact on neonatal morbidity and mortality. We included in this study cohort newborns with TGA/IVS who were referred for surgical management to our center over a 20-year period (1992-2011). The study period was divided into five 4-year periods and the primary outcome was rate of prenatal diagnosis. Secondary outcomes included neonatal preoperative status and perioperative survival. Of the 340 patients with TGA/IVS, 81 (23.8%) had a prenatal diagnosis. The rate of prenatal diagnosis increased over the study period, from 6% in 1992-1995 to 41% in 2008-2011 (P < 0.001). Compared to patients with a postnatal diagnosis, balloon atrial septostomy (BAS) was performed earlier in patients with a prenatal diagnosis (0 days after delivery vs 1 day after delivery, respectively; P < 0.001) and fewer prenatally diagnosed neonates required mechanical ventilation (55.6% vs 68.0%; P = 0.03). Between patients with a prenatal or postnatal diagnosis of TGA/IVS, there were no statistically significant differences in the incidence of preoperative acidosis (16.0% vs 25.5%; P = 0.1), need for preoperative extracorporeal membrane oxygenation (2.5% vs 2.7%; P = 1.0) or mortality (one preoperative and no postoperative deaths among prenatally diagnosed patients compared with four preoperative and six postoperative deaths among postnatally diagnosed patients). The prenatal detection rate of TGA/IVS has improved but still remains below 50%, suggesting the need for strategies to increase detection rates. The mortality rate was not statistically significantly different between prenatally and postnatally diagnosed patients, however, there were significant preoperative differences with regard to earlier BAS and fewer neonates that required mechanical ventilation. Ongoing work is required to ascertain whether prenatal diagnosis confers

  8. Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.

    PubMed

    Wigby, Kristen; D'Epagnier, Cheryl; Howell, Susan; Reicks, Amy; Wilson, Rebecca; Cordeiro, Lisa; Tartaglia, Nicole

    2016-11-01

    Triple X syndrome (47, XXX) occurs in approximately 1:1,000 female births and has a variable phenotype of physical and psychological features. Prenatal diagnosis rates of 47, XXX are increasing due to non-invasive prenatal genetic testing. Previous studies suggest that prenatal diagnosed females have better neurodevelopmental outcomes. This cross-sectional study describes diagnosis, physical features, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Evaluation included review of medical and developmental history, physical exam, cognitive, and adaptive testing. Medical and developmental features were compared between the prenatal and postnatal diagnosis groups using rate calculations and Fisher's exact test. Cognitive and adaptive tests scores were compared using t-tests. Seventy-four females age 6 months-24 years (mean 8.3 years) participated. Forty-four (59.5%) females were in the prenatal diagnosis group. Mean age of postnatal diagnosis was 5.9 years; developmental delay was the most common indication for postnatal genetic testing. Common physical features included hypertelorism, epicanthal folds, clinodactyly, and hypotonia. Medical problems included dental disorders (44.4%), seizure disorders (16.2%), genitourinary malformations (12.2%). The prenatal diagnosis group had higher verbal (P < 0.001), general ability index (P = 0.004), and adaptive functioning scores (P < 0.001). Rates of ADHD (52.2% vs. 45.5%, P = 0.77) and learning disabilities (39.1% vs. 36.3%, P = 1.00) were similar between the two groups. These findings expand on the phenotypic features in females with Triple X syndrome and support that prenatally ascertained females have better cognitive and functional outcomes. However, prenatally diagnosed females are still at risk for neurodevelopmental disorders. Genetic counseling and treatment recommendations are summarized. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  9. No. 262-Prenatal Screening for and Diagnosis of Aneuploidy in Twin Pregnancies.

    PubMed

    Audibert, François; Gagnon, Alain

    2017-09-01

    To provide a Canadian consensus document with recommendations on prenatal screening for and diagnosis of fetal aneuploidy (e.g., Down syndrome and trisomy 18) in twin pregnancies. The process of prenatal screening and diagnosis in twin pregnancies is complex. This document reviews the options available to pregnant women and the challenges specific to screening and diagnosis in a twin pregnancy. Clinicians will be better informed about the accuracy of different screening options in twin pregnancies and about techniques of invasive prenatal diagnosis in twins. PubMed and Cochrane Database were searched for relevant English and French language articles published between 1985 and 2010, using appropriate controlled vocabulary and key words (aneuploidy, Down syndrome, trisomy, prenatal screening, genetic health risk, genetic health surveillance, prenatal diagnosis, twin gestation). Results were restricted to systematic reviews, randomized controlled trials, and relevant observational studies. Searches were updated on a regular basis and incorporated in the guideline to August 2010. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. The previous Society of Obstetricians and Gynaecologists of Canada guidelines regarding prenatal screening were also reviewed in developing this clinical practice guideline. The quality of evidence was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1). There is a need for specific guidelines for prenatal screening and diagnosis in twins. These guidelines should assist health care providers in the approach to this aspect of prenatal care of women with twin pregnancies. RECOMMENDATIONS. Copyright © 2017. Published by Elsevier Inc.

  10. 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.

  11. 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

  12. [Severe hypoplastic left heart syndrome: palliative care after prenatal diagnosis].

    PubMed

    Noseda, C; Mialet-Marty, T; Basquin, A; Letourneur, I; Bertorello, I; Charlot, F; Le Bouar, G; Bétrémieux, P

    2012-04-01

    We analyzed 16 cases of hypoplastic left heart syndrome (HLHS) submitted to the multidisciplinary center at Rennes Teaching Hospital from 2006 to 2010 for prenatal diagnosis. The information given to parents at the moment of choice is capital for them to make their own decision: in our team the real choice for parents stands between termination of pregnancy (TOP) and palliative care (PC). The Norwood procedure is rarely proposed to parents in France and it is performed in very few centers. Heart transplant is never proposed nor done at this age. The objectives of our study were to understand the reasons for the choice of PC, take stock of our experience of PC, and relate the benefits but also the disadvantages of PC. Over the 16 patients whose fetus had HLHS, 9 requested TOP, while 7 others wanted to live their pregnancy and meet their child at birth, therefore requesting neonatal PC. No family asked for the Norwood procedure. Four children died within the first days (D1, D2, D4, D9), 2 others died at 5 and 7 months, 1 child was operated on for coarctation of the aorta (unknown before birth) and is still alive 1.5 years later. Maternal motivations to continue the pregnancy were clearly described for 2 of the 7 cases: religious prohibition of TOP in 1 case, negative experiences of previous abortions in the second case. In another case, the parents hesitated between PC and Norwood surgery. For the other women, the reasons were less clearly expressed. In our series, HLHS is the first indication for PC from prenatal diagnosis (7/16 cases in the same period) while in the literature, heart diseases are the second cause of TOP after the neurological causes. The overrepresentation of this pathology in the families who opt for PC may be due to the unconscious image that both professionals and families have of HLHS: severity of an inevitably fatal disease, rapid postnatal death, and no suffering. Our study may change this view: a child was in fact carrying a

  13. Novel sonographic clues for diagnosis of antral gastritis and Helicobacter pylori infection: a clinical study.

    PubMed

    Cakmakci, Emin; Ucan, Berna; Colak, Bayram; Cinar, Hasibe Gokçe

    2014-09-01

    The purpose of this study was to find out whether transabdominal sonography may have a predictive role for detection of antral gastritis and Helicobacter pylori infection in the antrum. A total of 108 patients and 54 control participants were allocated into 3 groups: group 1, controls without any symptoms or findings of antral gastritis and H pylori infection; group 2, patients with symptoms and endoscopic findings consistent with gastritis in the absence of documented H pylori infection; and group 3, patients with symptoms and endoscopic findings consistent with gastritis and documented H pylori infection. These groups were compared in terms of demographics, antral wall thickness, mucosal layer (together with muscularis mucosa) thickness, and mucosal layer-to-antral wall thickness ratio. The groups had no statistically significant differences with respect to age, sex, body mass index, and smoking habits. However, it turned out that both antral walls and muscularis mucosa layers were thicker and the mucosal layer-to-antral wall thickness ratio was higher in groups 2 and 3 compared to group 1 (P > .001). In addition, group 3 had statistically significantly thicker antral walls and muscularis mucosa layers and a significantly increased mucosal layer-to-antral wall thickness ratio than group 2 (P < .001). Our results suggest that antral gastritis caused by H pylori infection is associated with characteristic features such as thickening of antral walls and mucosal layers on sonography. These novel clues may be useful in the diagnosis of gastritis, and unnecessary interventions and measures can be avoided in some cases. © 2014 by the American Institute of Ultrasound in Medicine.

  14. 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

  15. Prenatal Diagnosis of Transposition of the Great Arteries over a 20-Year Period: Improved but Imperfect

    PubMed Central

    Escobar-Diaz, Maria C; Freud, Lindsay R; Bueno, Alejandra; Brown, David W; Friedman, Kevin; Schidlow, David; Emani, Sitaram; del Nido, Pedro; Tworetzky, Wayne

    2015-01-01

    Objective To evaluate temporal trends in prenatal diagnosis of transposition of the great arteries with intact ventricular septum (TGA/IVS) and its impact on neonatal morbidity and mortality. Methods Newborns with TGA/IVS referred for surgical management to our center over a 20-year period (1992 – 2011) were included. The study time was divided into 5 four-year periods, and the primary outcome was rate of prenatal diagnosis. Secondary outcomes included neonatal pre-operative status and perioperative survival. Results Of the 340 patients, 81 (24%) had a prenatal diagnosis. Prenatal diagnosis increased over the study period from 6% to 41% (p<0.001). Prenatally diagnosed patients underwent a balloon atrial septostomy (BAS) earlier than postnatally diagnosed patients (0 vs. 1 day, p<0.001) and fewer required mechanical ventilation (56% vs. 69%, p=0.03). There were no statistically significant differences in pre-operative acidosis (16% vs. 26%, p=0.1) and need for preoperative ECMO (2% vs. 3%, p=1.0). There was also no significant mortality difference (1 pre-operative and no post-operative deaths among prenatally diagnosed patients, as compared to 4 pre-operative and 6 post-operative deaths among postnatally diagnosed patients). Conclusion The prenatal detection rate of TGA/IVS has improved but still remains below 50%, suggesting the need for strategies to increase detection rates. The mortality rate was not statistically different between pre- and postnatally diagnosed patients; however, there were significant pre-operative differences with regard to earlier BAS and less mechanical ventilation. Ongoing study is required to elucidate whether prenatal diagnosis confers long-term benefit. PMID:25484180

  16. Accuracy of prenatal diagnosis and prediction of lethality for fetal skeletal dysplasias.

    PubMed

    Yeh, Peter; Saeed, Ferha; Paramasivam, Gowrishankar; Wyatt-Ashmead, Josephine; Kumar, Sailesh

    2011-05-01

    We reviewed all cases with fetal skeletal dysplasia and correlated the accuracy of prenatal diagnoses with the final post-mortem, radiological, or molecular diagnoses. The accuracy of prenatal prediction of lethality was also reviewed. All cases of fetal skeletal dysplasia referred between October 2002 and August 2010 were reviewed. Perinatal outcome, the accuracy of prenatal diagnosis, and prediction of lethality were ascertained. Lethality was suspected when significant thoracic narrowing, severe micromelia, multiple fractures, or long bone bowing was present. There were 40 cases of skeletal dysplasia. Thirty-nine (97.5%) were singletons and one (2.5%) was a dichorionic twin pregnancy. Twenty-eight (70%) pregnancies were terminated, five (12.5%) were stillborn, and only seven (17.5%) cases were live born. A final diagnosis was established in 28 (70%) cases. In 29 cases with a presumptive prenatal diagnosis, this was confirmed in 23 (79.3%) cases postnatally. Lethality was predicted with 100% certainty. We report higher prenatal/postnatal concordance rates in this series. A precise prenatal diagnosis is frequently difficult and often inaccurate. Prediction of lethality is much easier and often possible with accuracy. Parents need to be aware that the outcome of many skeletal dysplasias is poor. Copyright © 2011 John Wiley & Sons, Ltd.

  17. Attitudes of Mexican geneticists towards prenatal diagnosis and selective abortion.

    PubMed

    Carnevale, A; Lisker, R; Villa, A R; Armendares, S

    1998-02-03

    Prenatal diagnosis (PD) provides the physician information on whether the unborn fetus has a genetic or chromosomal disorder, and offers patients a new option: selective abortion. In the present study, we analyzed the answers Mexican geneticists provided to a few selected questions from a multinational survey designed by Wertz and Fletcher [1988: Am J Hum Genet 42:592-600]. The selected questions were related to the use of PD, the acceptance of selective abortion, and the self-reported directiveness of counselling following the diagnosis of a fetal anomaly. Our results show that the great majority of Mexican geneticists participating in the study agree with PD when medically indicated, but not on free demand. Specific cases stimulated the group on thinking more than the general statements provided in the survey. Although the majority agreed that PD should be available to all women, when faced with cases of nonmorbid maternal anxiety, paternity testing, and sex selection, the proportion of geneticists willing to perform the test decreased substantially. When counselling patients on a fetal anomaly, the minority would be as unbiased as possible, and this seems to be the tendency in developing countries where counselling, as stated in the respondents' comments, reflects the belief that the goal of genetics is the prevention of or opposition to abortion. Counselling was influenced by the severity of the disorder. The geneticists' personal attitude toward abortion in the same situations was stronger than when counselling others. Analysis of directiveness in counselling for fetal anomaly showed that older geneticists, with more years of experience in medical genetics, were more likely to be neutral. When counselling directively, the group showed an overall direction toward continuing affected pregnancies. However, older geneticists and those with more than 10 years of practice were more likely than their younger counterparts to counsel towards terminating affected

  18. Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.

    PubMed

    Cui, Ying-Xia; Xia, Xin-Yi; Bu, Ying; Zhou, Guo-Hua; Yang, Bin; Lu, Hong-Yong; Shi, Yi-Chao; Pan, Lian-Jun; Huang, Yu-Feng; Li, Xiao-Jun

    2008-12-01

    Heterozygous mutations of COL2A1 gene are responsible for type II collagenopathies. The common skeletal phenotypes include achondrogenesis type II, hypochondrogenesis, Stickler dysplasia, Kniest dysplasia, late onset spondyloepiphyseal dysplasia, and spondyloepiphyseal dysplasia congenita (SEDC). Prevention of SEDC can be achieved by prenatal diagnosis. This study reports the first rapid molecular prenatal diagnosis of SEDC performed in China by polymerase chain reaction sequence-specific primer (PCR-SSP) analysis. The pregnant woman we previously reported with SEDC carried the G to A substitution at nucleotide 1510 in exon 23 of COL2A1 gene, which caused a change from glycine to serine at codon 504 (G504S). By the time the woman got pregnant again, she had terminated two pregnancies and still had no child. In the first pregnancy, the molecular mutation of the family was not yet identified, and therefore prenatal diagnosis was unable to be performed by DNA analysis. In the second pregnancy, G504S mutation was found from fetal DNA. At the time of her third pregnancy, the woman and her husband became extremely worried about the potential SEDC for the fetus. For this reason, a quick and reliable molecular prenatal diagnosis of SEDC was performed by a PCR-SSP on an amniocyte sample collected at the 14th week of pregnancy. No mutation of the fetal DNA was identified. The result was obtained within 24 h after the sample was collected. The technique could be applied in confirmatory diagnosis and prenatal diagnosis for the affected family.

  19. [Gene mutation analysis and prenatal diagnosis of a family with Bartter syndrome].

    PubMed

    Li, Long; Ma, Na; Li, Xiu-Rong; Gong, Fei; DU, Juan

    2016-08-01

    To investigate the mutation of related genes and prenatal diagnosis of a family with Bartter syndrome (BS). The high-throughput capture sequencing technique and PCR-Sanger sequencing were used to detect pathogenic genes in the proband of this family and analyze the whole family at the genomic level. After the genetic cause was clarified, the amniotic fluid was collected from the proband's mother who was pregnant for 5 months for prenatal diagnosis. The proband carried compound heterozygous mutations of c.88C>T(p.Arg30*) and c.968+2T>A in the CLCNKB gene; c.88C>T(p.Arg30*) had been reported as a pathogenic mutation, and c.968+2T>A was a new mutation. Pedigree analysis showed that the two mutations were inherited from the mother and father, respectively. Prenatal diagnosis showed that the fetus did not inherit the mutations from parents and had no mutations at the two loci. The follow-up visit confirmed that the infant was in a healthy state, which proved the accuracy of genetic diagnosis and prenatal diagnosis. The compound heterozygous mutations c.88C>T(p.Arg30*) and c.968+2T>A in the CLCNKB gene are the cause of BS in the proband, and prenatal diagnosis can prevent the risk of recurrence of BS in this family.

  20. Prenatal diagnosis of intracranial teratoma. Prolonged survival after resection of a malignant teratoma diagnosed prenatally by ultrasound: a case report and literature review.

    PubMed

    Ferreira, J; Eviatar, L; Schneider, S; Grossman, R

    1993-01-01

    We are reporting a case of an infant with an intracranial malignant teratoma which was diagnosed prenatally by ultrasound at 37 weeks of gestational age. After a cesarean delivery, the resection of the tumor was performed at 24 h of age. This infant is currently the oldest reported survivor that carries this prenatal diagnosis. He is also the first reported infant with surgical intervention for an intracranial malignant teratoma diagnosed prenatally.

  1. Robust Texture Analysis Using Multi-Resolution Gray-Scale Invariant Features for Breast Sonographic Tumor Diagnosis.

    PubMed

    Min-Chun Yang; Woo Kyung Moon; Wang, Yu-Chiang Frank; Min Sun Bae; Chiun-Sheng Huang; Jeon-Hor Chen; Ruey-Feng Chang

    2013-12-01

    Computer-aided diagnosis (CAD) systems in gray-scale breast ultrasound images have the potential to reduce unnecessary biopsy of breast masses. The purpose of our study is to develop a robust CAD system based on the texture analysis. First, gray-scale invariant features are extracted from ultrasound images via multi-resolution ranklet transform. Thus, one can apply linear support vector machines (SVMs) on the resulting gray-level co-occurrence matrix (GLCM)-based texture features for discriminating the benign and malignant masses. To verify the effectiveness and robustness of the proposed texture analysis, breast ultrasound images obtained from three different platforms are evaluated based on cross-platform training/testing and leave-one-out cross-validation (LOO-CV) schemes. We compare our proposed features with those extracted by wavelet transform in terms of receiver operating characteristic (ROC) analysis. The AUC values derived from the area under the curve for the three databases via ranklet transform are 0.918 (95% confidence interval [CI], 0.848 to 0.961), 0.943 (95% CI, 0.906 to 0.968), and 0.934 (95% CI, 0.883 to 0.961), respectively, while those via wavelet transform are 0.847 (95% CI, 0.762 to 0.910), 0.922 (95% CI, 0.878 to 0.958), and 0.867 (95% CI, 0.798 to 0.914), respectively. Experiments with cross-platform training/testing scheme between each database reveal that the diagnostic performance of our texture analysis using ranklet transform is less sensitive to the sonographic ultrasound platforms. Also, we adopt several co-occurrence statistics in terms of quantization levels and orientations (i.e., descriptor settings) for computing the co-occurrence matrices with 0.632+ bootstrap estimators to verify the use of the proposed texture analysis. These experiments suggest that the texture analysis using multi-resolution gray-scale invariant features via ranklet transform is useful for designing a robust CAD system.

  2. Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy

    SciTech Connect

    Roberts, R.G.; Cole, C.G.; Hart, K.A.; Bobrow, M.; Bentley, D.R. )

    1989-01-25

    Carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy (DMD and BMD) by DNA methods uses Southern blotting to detect either the informative segregation of restriction fragment length polymorphisms (RFLPs) or the absence of restriction fragments in affected males. Recently, the use of the polymerase chain reaction (PCR) for rapid detection of deletions in some affected males was reported eliminating the need for Southern blotting of 37% of all samples. This approach is not applicable, however, to non-deletion cases or for carrier diagnosis. The authors have used PCR for rapid analysis of intragenic RFLPs to permit both carrier and prenatal diagnosis in the majority of familial cases.

  3. 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

  4. Prenatal diagnosis, hospital characteristics, and mortality in transposition of the great arteries.

    PubMed

    Lara, Diego A; Fixler, David E; Ethen, Mary K; Canfield, Mark A; Nembhard, Wendy N; Morris, Shaine A

    2016-09-01

    The role of prenatal diagnosis in reducing neonatal mortality from transposition of the great arteries (TGA) is controversial. Factors affected by prenatal diagnosis such as proximity at birth to a cardiac surgical center (CSC) and CSC volume are associated with mortality in congenital heart disease. The purpose of the study was to determine the associations between prenatal diagnosis, distance from birthplace to a CSC, CSC TGA volume, and neonatal mortality in patients with TGA. The Texas Birth Defects Registry was queried for all live born infants with TGA from 1999 to 2007. Four hundred sixty-eight cases of TGA were included. Forty-eight patients (10.3%) were prenatally diagnosed, and 20 patients died before age 28 days (4.3%). Neither prenatal diagnosis nor close proximity to a CSC at birth (p > 0.05) were associated with decreased mortality. Low CSC TGA volume was associated with increased mortality (p < 0.0002). Mortality at the CSCs with <5 patients per year was 9.6%; CSCs with 5 to 10 patients per year had 0% mortality, and those with >10 patients per year had 2.3% mortality. In multivariable logistic regression, only preterm birth (odds ratio, 7.05; 95% confidence interval, 4.13-12.05) and lower CSC volume (p < 0.001) were associated with neonatal mortality, although prenatal diagnosis attenuated the detrimental association of lower volume CSCs with higher mortality (p for interaction = 0.047). Lower CSC TGA patient volume was associated with higher neonatal mortality. Prenatal diagnosis may improve survival in lower volume CSCs. Birth Defects Research (Part A) 106:739-748, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  5. Receiving the Initial Down Syndrome Diagnosis: A Comparison of Prenatal and Postnatal Parent Group Experiences

    ERIC Educational Resources Information Center

    Nelson Goff, Briana S.; Springer, Nicole; Foote, Laura Cline; Frantz, Courtney; Peak, Madison; Tracy, Courtney; Veh, Taylor; Bentley, Gail E.; Cross, Kayli A.

    2013-01-01

    This study explored the preliminary experiences of parents upon learning of their child's diagnosis of Down syndrome. Qualitative data from a web-based, national survey were analyzed based on two groups: prenatal ("n" = 46) or postnatal ("n" = 115) diagnosis. Three primary categories emerged from the data analysis:…

  6. Reciprocal Relationships: the Genetic Counselor-Patient Relationship Following a Life-Limiting Prenatal Diagnosis.

    PubMed

    Williams, S R; Berrier, K L; Redlinger-Grosse, K; Edwards, J G

    2016-10-22

    Utilizing the tenet, "Relationship is integral to the genetic counseling process" from the Reciprocal Engagement Model (REM) of genetic counseling practice, this study sought to explore the relationship between the genetic counselor and patient following a "life-limiting" prenatal diagnosis that resulted in a major loss (termination, stillbirth/miscarriage, or neonatal death). The specific aims of this study were to: 1) Understand and describe aspects of the genetic counselor-patient relationship in the context of the life-limiting prenatal diagnosis, and identify characteristics and actions of the 2) genetic counselor and 3) patient that influence the relationship. Genetic counselor (GC) participants were recruited via a web-based survey distributed by NSGC and the NSGC Prenatal SIG. Eligible GCs maintained a relationship with a patient beyond the prenatal diagnosis and had a willing patient participant. Individual 60-min audio-recorded telephone interviews were conducted with eight GC and 8 respective patients (n = 16) using parallel interview guides (n = 16). Transcriptions underwent thematic content analysis for systematic coding and identification of emergent themes. The GC-patient relationship was characterized by the evolution of communication and promoted by the supportive needs of the patient, the nature of the diagnosis, and characteristics and supportive actions of the participants. This exploratory study highlights the unique service of support offered by genetic counselors in the context of a life-limiting prenatal diagnosis.

  7. Prenatal diagnosis as a tool and support for eugenics: myth or reality in contemporary French society?

    PubMed

    Gaille, Marie; Viot, Géraldine

    2013-02-01

    Today, French public debate and bioethics research reflect an ongoing controversy about eugenics. The field of reproductive medicine is often targeted as pre-implantation genetic diagnosis (PGD), prenatal diagnosis, and prenatal detection are accused of drifting towards eugenics or being driven by eugenics considerations. This article aims at understanding why the charge against eugenics came at the forefront of the ethical debate. Above all, it aims at showing that the charge against prenatal diagnosis is groundless. The point of view presented in this article has been elaborated jointly by a geneticist and a philosopher. Besides a survey of the medical, bioethical, philosophical and social sciences literature on the topic, the methodology is founded on a joint analysis of geneticist's various consults. Evidence from office visits demonstrated that prenatal diagnosis leads to case-by-case decisions. As we have suggested, this conclusion does not mean that prenatal diagnosis is devoid of ethical issues, and we have identified at least two. The first is related to the evaluation of a decision to abort. The second line of ethical questions arises from the fact that the claim for "normality" hardly hides normative and ambiguous views about disability. As a conclusion, ethical dilemmas keep being noticeable in the field of reproductive medicine and genetic counselling, but an enquiry about eugenic tendencies probably does not allow us to understand them in the proper way.

  8. Prenatal diagnosis and the pediatric surgeon: the impact of prenatal consultation on perinatal management.

    PubMed

    Crombleholme, T M; D'Alton, M; Cendron, M; Alman, B; Goldberg, M D; Klauber, G T; Cohen, A; Heilman, C; Lewis, M; Harris, B H

    1996-01-01

    Pediatric surgeons are increasingly called on by obstetrical colleagues to counsel parents about the implications of a prenatal ultrasound finding. Our understanding of the natural history of many prenatally diagnosed surgical conditions has grown significantly in recent years. Whether prenatal surgical consultation can influence perinatal course had not been investigated. During an 21-month period, 12,865 prenatal ultrasound studies were performed on a total of 4,551 patients, and 221 prenatal surgical consultations were obtained through a newly established fetal treatment program at a tertiary care prenatal diagnostic center. To evaluate the impact of prenatal pediatric surgical consultation on perinatal course, the authors reviewed changes in management including termination of pregnancy, in utero intervention, and altered site, mode, or timing of delivery. Two hundred twenty-one fetuses were referred for consultation; their 234 congenital anomalies included genitourinary (36%), thoracic (16%), intraabdominal (14.5%), abdominal wall (10.6%), neurological (9%), skeletal (6%), and head and neck (2.5%) defects; 2.5% had tumors and 2.5% were twin pregnancies. Pregnancy was terminated in 9.5% of cases, because of patient request, chromosomal abnormality, or dismal prognosis. In 3.6%, the decision to terminate was changed as a result of consultation. Site of delivery was changed as a result of consultation in 37% to facilitate postnatal evaluation and initiate immediate treatment. Mode of delivery was changed in 6.8% to prevent dystocia, hemorrhage into a tumor, as in sacrococcygeal teratoma, or to provide an emergency airway, as in cervical teratoma. The timing of delivery was changed in 4.5% to avoid further damage to fetal organs in cases of obstructive uropathy, gastroschisis, sacrococcygeal teratoma with high-output failure, and hydrocephalus. Five percent (11) underwent treatment in utero for fetal hydrothorax, obstructive uropathy, twin-twin transfusion

  9. Prenatal Ultrasound Diagnosis of Congenital Talipes Equinovarus in Bogota (Colombia) Between 2003 and 2012

    PubMed Central

    Rosselli, Pablo; Nossa, Sergio; Huérfano, Elina; Betancur, Germán; Guzmán, Yuli; Castellanos, Cristal; Morcuende, Jose

    2015-01-01

    Introduction Congenital Talipes Equinovarus (CTEV) or clubfoot is one of the most common congenital abnormalities1,2. Early diagnosis by means of ultrasonography allows an opportune intervention and improves the deformity's correction prognosis. Goal To describe patients diagnosed with CTEV by means of prenatal sonographies between 2003 and 2012 in Bogotá (Colombia) at both the Institute de Ortopedia Infantil Roosevelt (IOIR) and one of the authors' private office. Methods A descriptive, retrospective study on the focus population was made. The equality of the data of the quantitative variables in distance measure was analysed by the Kolmogorov–Smirnov test. For the variables “prenatal diagnoses” and “days from the start of the treatment” the Mann–Whitney U test was used. Finally, an analysis was made by means of the SPSS Statistics software package, version 18.0. Results 178 patients met the selection criteria. 34.3% of the patients had a prenatal diagnosis by ultrasonography (n=61). Regarding the number of prenatal ultrasounds performed, there were statistically significant differences between the patients with a CTEV prenatal diagnoses and those whose diagnoses came after birth, being higher in the first group (p<0.001). The number of days before the treatment started once the pre or postnatal diagnosis was done was also a subject of study. Significant differences were found in the treatment start between patients with a prenatal diagnosis (mean of 9.9 days) and those diagnosed after birth (mean of 30 days) (p<0.001). Conclusions prenatal diagnosis by foetal ultrasonography contributes to an early detection of musculoskeletal abnormalities such as CTEV and promotes an early intervention of the patient. PMID:26361459

  10. Genetic counseling and prenatal diagnosis for hereditary hearing loss in high-risk families.

    PubMed

    Yin, Aihua; Liu, Chang; Zhang, Yan; Wu, Jing; Mai, Mingqin; Ding, Hongke; Yang, Jiexia; Zhang, Xiaozhuang

    2014-08-01

    Genetic counseling and prenatal diagnosis are very necessary and accurate to detect hereditary hearing loss, especially in high-risk families. Prenatal diagnosis is testing for diseases or conditions in fetuses before born, which gives parents the chance to prepare psychologically, financially and medically for the probable health and educational needs of the affected neonates. 54 unrelated families with children affected with non-syndromic sensorineural hearing loss were enrolled in the study and received genetic analysis with microarray and DNA sequencing technologies. Genetic counseling was provided to each participating families, and prenatal diagnosis was given to those at risk and would like to know their fetuses' genotypes and probable hearing statuses. Half the cases in the present study were diagnosed with confirmed pathogenic mutations and clear inheritance patterns. After receiving genetic counseling, 24 carrier couples with pathogenic mutations chose to proceed prenatal diagnosis, the results of which were in accordance with the pregnancy outcomes. Infants prenatally detected to be monoallelic mutation carriers and those harbored neither deafness-causing mutations form their parents passed newborn hearing screening and six-month follow-ups, while neonates prenatally detected to be carriers of diallelic or compound heterozygous mutations developed hearing loss after birth. With appropriate genetic counseling and support services provided, the genetic testing and the prenatal diagnosis of hearing loss were valued by carrier couples for the information provided for future family planning and probably the preparation for the health and educational needs of the affected neonates. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  11. Prenatal Ultrasound Diagnosis of Congenital Talipes Equinovarus in Bogota (Colombia) Between 2003 and 2012.

    PubMed

    Rosselli, Pablo; Nossa, Sergio; Huérfano, Elina; Betancur, Germán; Guzmán, Yuli; Castellanos, Cristal; Morcuende, Jose

    2015-01-01

    Congenital Talipes Equinovarus (CTEV) or clubfoot is one of the most common congenital abnormalities(1,2). Early diagnosis by means of ultrasonography allows an opportune intervention and improves the deformity's correction prognosis. To describe patients diagnosed with CTEV by means of prenatal sonographies between 2003 and 2012 in Bogotá (Colombia) at both the Institute de Ortopedia Infantil Roosevelt (IOIR) and one of the authors' private office. A descriptive, retrospective study on the focus population was made. The equality of the data of the quantitative variables in distance measure was analysed by the Kolmogorov-Smirnov test. For the variables "prenatal diagnoses" and "days from the start of the treatment" the Mann-Whitney U test was used. Finally, an analysis was made by means of the SPSS Statistics software package, version 18.0. 178 patients met the selection criteria. 34.3% of the patients had a prenatal diagnosis by ultrasonography (n=61). Regarding the number of prenatal ultrasounds performed, there were statistically significant differences between the patients with a CTEV prenatal diagnoses and those whose diagnoses came after birth, being higher in the first group (p<0.001). The number of days before the treatment started once the pre or postnatal diagnosis was done was also a subject of study. Significant differences were found in the treatment start between patients with a prenatal diagnosis (mean of 9.9 days) and those diagnosed after birth (mean of 30 days) (p<0.001). prenatal diagnosis by foetal ultrasonography contributes to an early detection of musculoskeletal abnormalities such as CTEV and promotes an early intervention of the patient.

  12. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

    PubMed Central

    Krakow, Deborah; Lachman, Ralph S.; Rimoin, David L.

    2010-01-01

    The osteochondrodysplasias, or skeletal dysplasias are a genetically heterogeneous group of over 350 distinct disorders, and many of them can present in the prenatal period as demonstrated by ultrasound. Differentiating these disorders in the prenatal period can be challenging because they are rare and many of the ultrasound findings are not necessarily pathognomic for a specific disorder. However, differentiating known lethal disorders from nonlethal disorders, providing differential diagnoses before delivery, determining postdelivery management plans and ultimately determining accurate recurrences risks to the at-risk couples improves patient care. These guidelines provide an approach to a fetus suspected of manifesting a skeletal dysplasia. PMID:19265753

  13. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias.

    PubMed

    Krakow, Deborah; Lachman, Ralph S; Rimoin, David L

    2009-02-01

    The osteochondrodysplasias, or skeletal dysplasias are a genetically heterogeneous group of over 350 distinct disorders, and many of them can present in the prenatal period as demonstrated by ultrasound. Differentiating these disorders in the prenatal period can be challenging because they are rare and many of the ultrasound findings are not necessarily pathognomic for a specific disorder. However, differentiating known lethal disorders from nonlethal disorders, providing differential diagnoses before delivery, determining postdelivery management plans and ultimately determining accurate recurrences risks to the at-risk couples improves patient care. These guidelines provide an approach to a fetus suspected of manifesting a skeletal dysplasia.

  14. Effect of surgeon-sonographer interaction on ultrasound diagnosis of rotator cuff tears: a five-year cohort study in 775 shoulders.

    PubMed

    Kurz, Adrian Z; Kelly, Matthew J; Hackett, Lisa; Murrell, George A C

    2016-09-01

    Ultrasonography for the diagnosis of rotator cuff tears has been a topic of debate for years. The literature shows promising results for the diagnostic utility of ultrasonography for rotator cuff tears. This study assessed the effect of a surgeon-sonographer interaction on the ability of ultrasonography to predict the presence or absence of rotator cuff tears. This study was a temporal cohort analysis of 775 patients to detect the diagnostic accuracy of ultrasonography at predicting a rotator cuff tear. The surgeon-sonographer interaction had three components: (1) presence of an ultrasound machine and ultrasonographer within a shoulder clinic, (2) the ultrasonographer attends shoulder operations, (3) and the ultrasonographer reviews patients preoperatively and postoperatively. Comparisons of 2 variables-presence and size of a tear-were made between the preoperative ultrasonographic findings with arthroscopic findings (gold standard). The diagnostic utility for the detection of rotator cuff tears by ultrasonography at the start of the study was 93% sensitive and 68% specific, and at the end of the study was 99% sensitive and 93% specific. There was an improvement in the correlation of the ability to estimate the size of rotator cuff tears from ultrasonography to surgery in both full- and partial-thickness tears. The surgeon-sonographer interaction improved the diagnostic utility of an office-based ultrasonographer over time, particularly with respect to the overall accuracy of ultrasonography for the detection of rotator cuff tears and for the ability to predict the size of full- and partial-thickness rotator cuff tears. Copyright © 2016. Published by Elsevier Inc.

  15. ALDP expression in fetal cells and its application in prenatal diagnosis of X-linked adrenoleukodystrophy.

    PubMed

    Ruiz, M; Coll, M J; Pampols, T; Girós, M

    1997-07-01

    X-linked adrenoleukodystrophy (X-ALD) is due to an impairment in the peroxisomal beta-oxidation of very long straight chain fatty acids (VLCFAs) and the gene involved encodes a 75 kD protein (ALDP). Prenatal diagnosis is usually made by measurement of VLCFAs in cultured amniotic fluid cells (CAF) and chorionic villus cells (CCV), but some misdiagnoses have been reported. For this reason, some authors suggest the use of more than one strategy to minimize the risk of pitfalls. In this study we show, by immunochemical techniques, that ALDP is expressed in chorionic villi and amniotic cells and can be used for prenatal diagnosis of X-ALD in kindreds where ALDP is absent (69-84 per cent), together with VLCFA determination. Moreover, we demonstrate that the culture medium modifies ALDP expression; therefore, it is a factor that must be taken into account when a prenatal diagnosis is done.

  16. Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers.

    PubMed Central

    Norman, A M; Floyd, J L; Meredith, A L; Harper, P S

    1989-01-01

    The close genetic linkage between the loci for apolipoprotein CII (ApoCII) and myotonic dystrophy makes presymptomatic detection and prenatal diagnosis feasible. We report three years' service experience of providing presymptomatic detection and prenatal diagnosis for myotonic dystrophy in 99 families. Careful clinical study of older family members remains important. The introduction of new probes (CKMM and BCL4) has helped to solve the problem of uninformativeness owing to unhelpful genotype distribution in a family. Nevertheless, informativeness cannot be guaranteed and families should be studied before pregnancy is undertaken whenever possible. Presymptomatic testing and prenatal diagnosis for myotonic dystrophy are soundly based. All affected subjects should have DNA banked for future use when other family members may require genotype information. PMID:2575669

  17. Prenatal 2-dimensional and 3-dimensional ultrasonography diagnosis and autoptic findings of isolated ectopia cordis.

    PubMed

    Bianca, S; Bartoloni, G; Auditore, S; Reale, A; Tetto, C; Ingegnosi, C; Pirruccello, B; Ettore, G

    2006-01-01

    Ectopia cordis is a very rare congenital malformation, commonly associated with intracardiac anomalies. It is due to a defect in fusion of the anterior chest wall resulting in an extrathoracic location of the heart. We report prenatal 2-dimensional (2D) and 3D ultrasonography diagnosis and postnatal autoptic findings of an isolated ectopia cordis with tricuspid atresia. Ectopia cordis prenatal diagnosis is easily made with ultrasound by visualizing the heart outside the thoracic cavity. 3D ultrasonography may add more detailed visualization of the heart anomaly even if the 2D ultrasonography alone permits the prenatal diagnosis. Obstetrical management should include a careful search for associated anomalies, especially cardiac, and the assessment of fetal karyotype. As this is considered a sporadic anomaly, the recurrence risk is low and no genetic origin is known. Copyright 2006 S. Karger AG, Basel.

  18. Rapid prenatal diagnosis of cytogenetic abnormalities by array CGH analysis

    USDA-ARS?s Scientific Manuscript database

    Array CGH analysis has been shown to be highly accurate for rapid detection of chromosomal aneuploidies and submicroscopic deletions or duplications on fetal DNA samples in a clinical prenatal diagnostic setting. The objective of this study is to present our "post-validation phase" experience with ...

  19. Prenatal molecular diagnosis of beta-thalassemia: report on the first two cases in Romania.

    PubMed

    Talmaci, R; Coriu, D; Dan, L; Cherry, L; Gavrila, L; Barbarii, L; Dogaru, M; Vladareanu, F; Vladareanu, R; Peltecu, G; Colita, D

    2008-01-01

    Thalassaemia major is a classical example of a disease that can be prevented by prenatal diagnosis. In Romania there are currently 300 patients with thalassaemia major under the management of specialized institutions. Prenatal diagnoses of thalassemia have offered a new dimension to the prevention of this disease, but in order to implement prenatal diagnosis, knowledge of mutations and of their incidence is essential. Molecular testing using Denaturing Gradient Gel Electrophoresis (DGGE) scanning and direct mutation detection with Amplificaton Refractory Mutation System-PCR (ARMS-PCR) and Restriction endonuclease Analysis of PCR fragments (PCR-RFLP) was performed by using amplified DNA from amniotic cells samples, while mutations in the parents were determined in advance. Using our experience in molecular diagnosis, we were able to perform the first prenatal diagnosis for two young couples at risk for thalassaemia major. Foetal samplings were collected by amniocentesis and chorionic villus sampling in the second trimester of the pregnancies. Maternal contamination of the foetal DNA was ruled out by STR genotyping. The prenatal diagnosis revealed affected foetuses with homozygous status of beta-thalassemia major. The IVSI-110 (G-A)/IVS II-745 (C-G) genotype in the first case foetus and ed 8 (-AA)/cd 8 (-AA) in the second case foetus were reported. The results of this study point to a successful future prenatal diagnosis of beta-thalassnemia in Romania, using a rapid and accurate molecular method. Together with the implementation of proper preventive health measures and the education of parents regarding their carrier status, we are hoping that this method will be used as the common application approach to decrease the incidence of thalassacmia major.

  20. Pregnancy termination following prenatal diagnosis of anencephaly or spina bifida: a systematic review of the literature

    PubMed Central

    Johnson, Candice Y.; Honein, Margaret A.; Flanders, W. Dana; Howards, Penelope P.; Oakley, Godfrey P.; Rasmussen, Sonja A.

    2015-01-01

    Background In regions where prenatal screening for anencephaly and spina bifida is widespread, many cases of these defects are prenatally diagnosed. The purpose of this study was to estimate the frequency of termination of pregnancy (TOP) following prenatal diagnosis of anencephaly or spina bifida and to investigate factors associated with TOP that might lead to selection bias in epidemiologic studies. Methods We included articles indexed in Medline and Embase between 1990 and May 2012 reporting the frequency of TOP following prenatal diagnosis of anencephaly or spina bifida with English-language abstracts, ≥20 prenatally diagnosed cases, and at least half of the study years in 1990 or later. We summarized the frequency of TOP across studies using random-effects meta-analysis and stratified results by fetal and study characteristics. Results Among the 17 studies identified, 9 included anencephaly and 15 included spina bifida. Nine were from Europe, 6 were from North America, and 1 each was from South America and Asia. The overall frequency of TOP following prenatal diagnosis was 83% for anencephaly (range: 59–100%) and 63% for spina bifida (range: 31–97%). There were insufficient data to stratify the results for anencephaly; TOP for spina bifida was more common when the prenatal diagnosis occurred <24 weeks gestation, with defects of greater severity, and in Europe versus North America. Conclusions Because underascertainment of birth defects might be more likely when the pregnancy ends in TOP and TOP is associated with fetal characteristics, selection bias is possible in epidemiologic studies of anencephaly or spina bifida. PMID:23097374

  1. Prenatal diagnosis of 45,X/46,XY mosaicism--a review and update.

    PubMed

    Hsu, L Y

    1989-01-01

    A total of 54 cases with prenatal diagnosis of 45,X/46,XY mosaicism was reviewed. Of 47 cases with information on phenotypic outcome, 42 cases (89.4 per cent) were reported to be associated with a grossly normal male phenotype. Three cases (6.4 per cent) were diagnosed as having mixed gonadal dysgenesis with internal asymmetrical gonads. Two other cases were questionably abnormal. In 40 cases with successful cytogenetic confirmatory studies, the overall rate of cytogenetic confirmation of 45,X/46,XY from tissues derived from fetus/liveborn/placenta was 70.0 per cent. This review shows a major difference in the phenotypic outcome between postnatal diagnosis and prenatal diagnosis. Due to the ascertainment bias, almost all known patients with postnatal diagnosis of 45,X/46,XY mosaicism are phenotypically abnormal. Therefore, caution must be used in translating information derived from postnatal diagnosis to prenatal diagnosis. This review calls for collection of more data on 45,X/46,XY mosaicism diagnosed prenatally, more long-term follow-up of liveborn infants, and pathological studies of all abortuses. Emphasis is placed also on the importance of genetic counselling, ultrasound examination, and cytogenetic confirmation.

  2. [Gene mutation analysis and prenatal diagnosis of four pedigrees with methymalonic aciduria].

    PubMed

    Pan, Yu-Chun; Liu, Yang; Wu, Wei-Qing; Xie, Jian-Sheng

    2016-10-01

    To study gene mutations in four pedigrees with methymalonic aciduria, as well as the feasibility of prenatal diagnosis of methymalonic aciduria. High-throughput sequencing was performed for related genes in the peripheral blood of children or parents who were diagnosed with methymalonic aciduria to identify the loci with mutations. Then amplification primers were designed for each locus, and PCR and direct sequencing were performed to validate the sequencing in the first generation in the four pedigrees. Whether the mutations were pathogenic were determined with reference to literature review and medical history. In the pedigrees 1, 3, and 4, ultrasound-guided chorionic villi biopsy was performed at weeks 11-13 of pregnancy to perform early prenatal diagnosis. In pedigree 1, c.656A>T and c.729-730insTT heterozygous mutations in the MUT gene were detected in the proband's father and mother, respectively. Early prenatal diagnosis showed c.656A>T and c.729-730insTT double heterozygous mutations in the fetus. The couple decided to terminate pregnancy. In pedigree 2, c.1106G>A and c.755-756insA double heterozygous mutations in the MUT gene were detected in the proband. c.1106G>A came from the father and c.755-756insA came from the mother. In pedigree 3, c.217C>T and c.609G>A double heterozygous mutations in the MMACHC gene were detected in the proband. c.217C>T came from the father and c.609G>A came from the mother. Prenatal diagnosis showed c.609G>A heterozygous mutation in the fetus. The baby was successfully delivered, and the result of umbilical cord blood testing was consistent with the prenatal diagnosis. In pedigree 4, c.609G>A and c.567dupT double heterozygous mutations in the MMACHC gene were detected in the proband. c.609G>A came from the father and c.567dupT came from the mother. Prenatal diagnosis showed c.567dupT heterozygous mutation in the fetus. The baby was successfully delivered, and the result of umbilical cord blood testing was consistent with the

  3. Fetal Cell Based Prenatal Diagnosis: Perspectives on the Present and Future

    PubMed Central

    Fiddler, Morris

    2014-01-01

    The ability to capture and analyze fetal cells from maternal circulation or other sources during pregnancy has been a goal of prenatal diagnostics for over thirty years. The vision of replacing invasive prenatal diagnostic procedures with the prospect of having the entire fetal genome in hand non-invasively for chromosomal and molecular studies for both clinical and research use has brought many investigators and innovations into the effort. While the object of this desire, however, has remained elusive, the aspiration for this approach to non-invasive prenatal diagnosis remains and the inquiry has continued. With the advent of screening by cell-free DNA analysis, the standards for fetal cell based prenatal diagnostics have been sharpened. Relevant aspects of the history and the current status of investigations to meet the goal of having an accessible and reliable strategy for capturing and analyzing fetal cells during pregnancy are reviewed. PMID:26237488

  4. 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.

  5. Attitudes of Mothers towards Their Child with Down Syndrome before and after the Introduction of Prenatal Diagnosis

    ERIC Educational Resources Information Center

    Lenhard, Wolfgang; Breitenbach, Erwin; Ebert, Harald; Schindelhauer-Deutscher, H. Joachim; Zang, Klaus D.; Henn, Wolfram

    2007-01-01

    In 1970, before the introduction of prenatal diagnosis of chromosome anomalies, an unpublished questionnaire study concerning the social and emotional situation of mothers of children with Down syndrome was conducted in southern Germany. To assess the psychosocial impact of the availability of prenatal diagnosis on parents of genetically…

  6. Attitudes of Mothers towards Their Child with Down Syndrome before and after the Introduction of Prenatal Diagnosis

    ERIC Educational Resources Information Center

    Lenhard, Wolfgang; Breitenbach, Erwin; Ebert, Harald; Schindelhauer-Deutscher, H. Joachim; Zang, Klaus D.; Henn, Wolfram

    2007-01-01

    In 1970, before the introduction of prenatal diagnosis of chromosome anomalies, an unpublished questionnaire study concerning the social and emotional situation of mothers of children with Down syndrome was conducted in southern Germany. To assess the psychosocial impact of the availability of prenatal diagnosis on parents of genetically…

  7. Tumoral calcinosis: sonographic sedimentation sign.

    PubMed

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

    2011-07-01

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

  8. How do the trends in the prenatal diagnosis of aneuploidy change after a non-invasive prenatal test becomes available? A Japanese single center study.

    PubMed

    Hasegawa, Junichi; Nakamura, Masamitsu; Sekizawa, Akihiko

    2015-04-01

    To clarify the trends in the use of the prenatal diagnosis of and screening for aneuploidy after a non-invasive prenatal test (NIPT) was made available at a single Japanese hospital. The subjects included consecutive pregnant females who visited our hospital for maternal checkups and delivery between January 2012 and April 2014. After the subjects were divided into those who desired a prenatal diagnosis or screening before the availability of NIPT and those who did after the availability of NIPT, the frequencies of various prenatal diagnosis and screening procedures were compared between the two groups. A total of 544 patients who visited the hospital before NIPT was available and 703 who visited the hospital after NIPT became available were analyzed. While only 16.2 % of pregnant females received a prenatal diagnosis or screening before the NIPT was available, 27.5 % of them considered undergoing a prenatal diagnosis or screening after the NIPT was available before genetic counseling, and 24.0 % ultimately received a prenatal diagnosis or screening following genetic counseling. Of these patients, 7.7 % underwent NIPT. First trimester ultrasound screening for chromosomal abnormalities was unlikely to be selected (from 12.9 to 10.5 %, p = 0.212), although the rate of amniocentesis significantly increased after genetic counseling (from 1.5 to 3.7 %, p = 0.021). Since NIPT became available in 2013, pregnant females have demonstrated a deep interest in obtaining a prenatal diagnosis and screening. Whereas some patients choose to forgo a screening after receiving genetic counseling, others prefer invasive diagnostic tests in contrast to screening.

  9. Embodied experiences of prenatal diagnosis of fetal abnormality and pregnancy termination.

    PubMed

    Pitt, Penelope; McClaren, Belinda J; Hodgson, Jan

    2016-05-01

    Pregnant women routinely undergo prenatal screening in Australia and this has become a common experience of motherhood. When prenatal screening or prenatal testing results in diagnosis of a serious fetal abnormality, women are presented with a decision to continue or terminate their pregnancy. Few recent studies have explored women's psychosocial experience of prenatal diagnosis and pregnancy termination for fetal abnormality, and within this small group of studies it is rare for research to consider the embodied aspect of women's experiences. This paper reports on qualitative findings from in-depth interviews with 59 women in Melbourne, Australia who received a prenatal diagnosis of a significant abnormality and decided to terminate the pregnancy. Interview transcripts were coded inductively through thematic analysis. Two themes about embodiment were generated from the interviews: transitioning embodiment, and vulnerable bodies in un/comfortable spaces. Theory of pregnant embodiment was drawn on in interpreting women's narratives. Recommendations arising from the analysis include health professionals recognising, acknowledging and accommodating the transitioning embodied state of women as they consider, prepare for, undergo and recover from pregnancy termination for fetal abnormality. Further recommendations address the connections and disconnections between this transitioning embodied state and the spaces of clinics, hospitals and home. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Prenatal diagnosis of congenital hallux varus deformity associated with pericentric inversion of chromosome 9.

    PubMed

    Gürel, Sebahat Atar

    2015-04-01

    Congenital hallux varus is a rare deformity of the great toe characterized by adduction of the hallux and medial displacement of the first metatarsophalangeal joint. Prenatal diagnosis of congenital hallux varus is presented herein. A 32-year-old woman was referred to our unit due to significant deviation of the fetal right great toe at 22(+2) weeks of pregnancy. Ultrasound examination revealed a thick and short great toe, which was significantly angulated medially on the right side. Amniocentesis was performed and the result was reported as inv(9) (p11;q12). After delivery, the clinical examination confirmed the prenatal diagnosis. To our knowledge, this is the first reported prenatal diagnosis of an isolated congenital hallux varus. Congenital hallux varus can be diagnosed easily in the prenatal period by 2-D and 4-D ultrasonography. Prenatal karyotyping should be taken into consideration, especially in the presence of associated anomalies, such as polydactyly and clubfoot. © 2014 The Author. Journal of Obstetrics and Gynaecology Research © 2014 Japan Society of Obstetrics and Gynecology.

  11. 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.

  12. Conservative management after prenatal ultrasound diagnosis of meconium periorchitis.

    PubMed

    Stupak, Aleksandra; Krzyzanowski, Arkadiusz; Semczuk-Sikora, Anna; Dymanowska-Dyjak, Izabela; Geca, Tomasz; Kondracka, Adrianna; Kwasniewska, Anna

    2014-10-01

    Meconium periorchitis is caused by the leakage of meconium from a bowel perforation into the peritoneal cavity via a patent processus vaginalis into the scrotal sac during fetal life or in the early postnatal period. Intrauterine meconium peritonitis causes sterile inflammatory response and calcification. Here, we describe a prenatally diagnosed case of meconium periorchitis. During the ultrasound scan at 29 weeks' gestation, enlargement of the scrotum with many small hyperechogenic masses and normal anatomy of testis was observed. Our case is the 11th prenatally diagnosed case presented in the worldwide literature and the first one described in Poland. This case confirms the latest tendency for the conservative management of meconium periorchitis and an asymptomatic postnatal course.

  13. 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.

  14. Prenatal diagnosis based on HPRT1 gene mutation in a Lesch-Nyhan family.

    PubMed

    Liu, N; Zhuo, Z-H; Wang, H-L; Kong, X-D; Shi, H-R; Wu, Q-H; Jiang, M

    2015-01-01

    We explored the feasibility of applying gene diagnosis in prenatal diagnosis by analysis of hypoxanthine-guanine phosphoribosyltransferase-1 (HPRT1) gene mutation in a Chinese Lesch-Nyhan family. A homozygous mutation of p.R170X (c.508C>T) in HPRT1 gene was detected in the proband, and a heterozygous mutation of p.R170X was detected in his mother. This mutation failed to be found in the 50 unrelated healthy individuals. Prenatal diagnosis indicated that the foetus was male and also carried p.R170X (c.508C>T) mutation, same as the proband. Parents of the foetus decided termination of pregnancy, and the result of gene analysis for the aborted tissue was consistent with that of prenatal diagnosis. We can see that Lesch-Nyhan syndrome (LNS) is caused by non-sense mutation p.R170X(c.508C>T)in HPRT1 gene in this family. Prenatal gene diagnosis is a valid strategy to prevent LNS because it can avoid the birth of LNS foetuses.

  15. [PAX3 gene mutation analysis for two Waardenburg syndrome type Ⅰ families and their prenatal diagnosis].

    PubMed

    Bai, Y; Liu, N; Kong, X D; Yan, J; Qin, Z B; Wang, B

    2016-12-07

    Objective: To analyze the mutations of PAX3 gene in two Waardenburg syndrome type Ⅰ (WS1) pedigrees and make prenatal diagnosis for the high-risk 18-week-old fetus. Methods:PAX3 gene was first analyzed by Sanger sequencing and multiplex ligation-dependent probe amplification(MLPA) for detecting pathogenic mutation of the probands of the two pedigrees. The mutations were confirmed by MLPA and Sanger in parents and unrelated healthy individuals.Prenatal genetic diagnosis for the high-risk fetus was performed by amniotic fluid cell after genotyping. Results: A heterozygous PAX3 gene gross deletion (E7 deletion) was identified in all patients from WS1-01 family, and not found in 20 healthy individuals.Prenatal diagnosis in WS1-01 family indicated that the fetus was normal. Molecular studies identified a novel deletion mutation c. 1385_1386delCT within the PAX3 gene in all affected WS1-02 family members, but in none of the unaffected relatives and 200 healthy individuals. Conclusions:PAX3 gene mutation is etiological for two WS1 families. Sanger sequencing plus MLPA is effective and accurate for making gene diagnosis and prenatal diagnosis.

  16. Molecular prenatal diagnosis of alpha and beta thalassemia in pregnant Hakka women in southern China.

    PubMed

    Zhao, Pingsen; Wu, Heming; Zhong, Zhixiong; Lan, Liubing; Zeng, Mei; Lin, Hualan; Wang, Huaxian; Zheng, Zhiyuan; Su, Luxian; Guo, Wei

    2017-08-03

    To date, there has been no systematic study of DNA-based prenatal diagnosis of thalassemia in pregnant Hakka women in southern China. A total of 279 pregnant Hakka women with confirmed cases of thalassemia who had been treated at the Meizhou People's Hospital in China's Guangdong Province from January 2014 to December 2016 were here enrolled. Genomic DNA was extracted from peripheral blood of couples and villus, amniotic fluid, or fetal cord blood. DNA-based diagnosis was performed on the tissues of fetuses whose parents had tested positive for α- and β-globin gene mutations were found using polymerase chain reaction (PCR) and flow-through hybridization technique. Follow-up visits were performed 6 months after the fetuses were born. Prenatal diagnosis was performed on 279 fetuses in at-risk pregnancies. Here, 211 α-thalassemia fetuses were confirmed, including 41 (19.43%) that tested positive for Bart's hydrops syndrome and 15 (7.11%) for Hb H disease. There were 103 (48.81%) heterozygotes. β-thalassemia was confirmed in 68 fetuses, including 23 (33.82%) with severe thalassemia and 27 (39.71%) heterozygotes. Another 12 cases were confirmed with α+β-thalassemia, including three cases of severe β-thalassemia. DNA-based testing prenatal diagnosis of thalassemia was found to be highly reliable. Our findings provide key information for clinical genetic counseling of prenatal diagnosis for major thalassemia in pregnant Hakka women in southern China. © 2017 Wiley Periodicals, Inc.

  17. 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

  18. Prenatal diagnosis of skeletal dysplasias: contribution of three-dimensional computed tomography.

    PubMed

    Ulla, Marina; Aiello, Horacio; Cobos, María Paz; Orioli, Iêda; García-Mónaco, Ricardo; Etchegaray, Adolfo; Igarzábal, María Laura; Otaño, Lucas

    2011-01-01

    To describe the contribution of 3-dimensional computed tomography (3D-CT) in the prenatal diagnosis of skeletal dysplasias (SD) in a cohort of patients with inconclusive diagnosis by ultrasound (US). Between May 2007 and February 2010, six pregnant women with suspected fetal SD on US examination but with no specific diagnosis were studied with 3D-CT. The images were evaluated by a multidisciplinary team who proposed a likely diagnosis. Further postnatal workup included clinical and radiological evaluation in all cases. Prenatal and postnatal diagnoses were compared. The use of 3D-CT provided a precise diagnosis confirmed postnatally in 5/6 patients. These included osteogenesis imperfecta type II (n = 2), osteogenesis imperfecta type III (n = 1), chondrodysplasia punctata (n = 1) and thanatophoric dysplasia type I (n = 1). A precise diagnosis could not be made in 1 case - either pre- or postnatally. Prenatal 3D-CT contributed to the diagnosis of the specific fetal SD in the majority of these cases. 3D-CT may have a complementary role to US where fetal SD is suspected, but no specific diagnosis can be made using US alone. Further studies on clinical performance and risk-benefit analysis are needed. Copyright © 2011 S. Karger AG, Basel.

  19. Pentalogy of Cantrell: Prenatal Diagnosis, Delivery, and Immediate Postnatal Surgical Repair

    PubMed Central

    Júnior, Edward Araujo; Carrilho, Milene Carvalho; Toneto, Bruno Rodrigues; Guilhen, José Cícero Stocco

    2017-01-01

    Pentalogy of Cantrell (PC) is a congenital anomaly characterized by a defect in the lower sternum, anterior diaphragm, and anterior abdominal wall; ectopia cordis; and congenital heart disease. It is a very rare congenital anomaly and the prenatal diagnosis is possible in the beginning of second trimester of pregnancy using the conventional ultrasonography. The prognosis is poor with high rates of perinatal mortality. We present a case report of prenatal diagnosis of PC at 22 weeks and 3 days of gestation. We emphasize the prenatal care follow up in a tertiary reference center, the parental counseling, the planning of delivery, and the management of newborn by a multidisciplinary team, including the description of immediate postnatal surgical repair. PMID:28770129

  20. Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21.

    PubMed

    Papageorgiou, Elisavet A; Karagrigoriou, Alex; Tsaliki, Evdokia; Velissariou, Voula; Carter, Nigel P; Patsalis, Philippos C

    2011-04-01

    The trials performed worldwide toward noninvasive prenatal diagnosis (NIPD) of Down's syndrome (or trisomy 21) have shown the commercial and medical potential of NIPD compared to the currently used invasive prenatal diagnostic procedures. Extensive investigation of methylation differences between the mother and the fetus has led to the identification of differentially methylated regions (DMRs). In this study, we present a strategy using the methylated DNA immunoprecipitation (MeDiP) methodology in combination with real-time quantitative PCR (qPCR) to achieve fetal chromosome dosage assessment, which can be performed noninvasively through the analysis of fetal-specific DMRs. We achieved noninvasive prenatal detection of trisomy 21 by determining the methylation ratio of normal and trisomy 21 cases for each tested fetal-specific DMR present in maternal peripheral blood, followed by further statistical analysis. The application of this fetal-specific methylation ratio approach provided correct diagnosis of 14 trisomy 21 and 26 normal cases.

  1. Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis

    PubMed Central

    Grati, Francesca Romana

    2014-01-01

    Chromosomal mosaicism is one of the primary interpretative issues in prenatal diagnosis. In this review, the mechanisms underlying feto-placental chromosomal mosaicism are presented. Based on the substantial retrospective diagnostic experience with chorionic villi samples (CVS) of a prenatal diagnosis laboratory the following items are discussed: (i) The frequency of the different types of mosaicism (confined placental, CPM, and true fetal mosaicisms, TFM); (ii) The risk of fetal confirmation after the detection of a mosaic in CVS stratified by chromosome abnormality and placental tissue involvement; (iii) The frequency of uniparental disomy for imprinted chromosomes associated with CPM; (iv) The incidence of false-positive and false-negative results in CVS samples analyzed by only (semi-)direct preparation or long term culture; and (v) The implications of the presence of a feto-placental mosaicism for microarray analysis of CVS and non-invasive prenatal screening (NIPS). PMID:26237479

  2. From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges

    PubMed Central

    Bianchi, Diana W

    2015-01-01

    Thus far, the focus of personalized medicine has been the prevention and treatment of conditions that affect adults. Although advances in genetic technology have been applied more frequently to prenatal diagnosis than to fetal treatment, genetic and genomic information is beginning to influence pregnancy management. Recent developments in sequencing the fetal genome combined with progress in understanding fetal physiology using gene expression arrays indicate that we could have the technical capabilities to apply an individualized medicine approach to the fetus. Here I review recent advances in prenatal genetic diagnostics, the challenges associated with these new technologies and how the information derived from them can be used to advance fetal care. Historically, the goal of prenatal diagnosis has been to provide an informed choice to prospective parents. We are now at a point where that goal can and should be expanded to incorporate genetic, genomic and transcriptomic data to develop new approaches to fetal treatment. PMID:22772565

  3. Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid.

    PubMed

    Zhang, Yao; Yang, Yan-ling; Hasegawa, Yuki; Yamaguchi, Seiji; Shi, Chun-yan; Song, Jin-qing; Sayami, Sujan; Liu, Ping; Yan, Rong; Dong, Jin-hua; Qin, Jiong

    2008-02-05

    Methylmalonic aciduria (MMA) is the most frequent disease of organic aciduria in China. Various biochemical strategies are followed for the prenatal diagnosis of MMA. However, since fetuses affected by MMA have decreased excretion of methylmalonic acid, the difficulties of prenatal biochemical diagnosis are obvious. Gas chromatography mass spectrometry (GC/MS) and tandem mass spectrometry (ESI/MS/MS) have allowed us to identify the disease in affected fetuses. The aim of this study was to determine the value of analysis of organic acids and total homocysteine in amniotic fluid in prenatal diagnosis of MMA. The clinical diagnoses and outcomes of nine probands with MMA and the prenatal diagnoses based on biochemical analysis of nine fetuses at risk for MMA were investigated. Amniotic fluid samples from pregnancies at risk for MMA and metabolically normal pregnancies were obtained at 16 - 24 weeks of gestation. Methylmalonic acid and methylcitric acid were measured by GC/MS, propionylcarnitine was analyzed by ESI/MS/MS, and total homocysteine was determined by fluorescence polarization immunoassay. In two pregnancies, high levels of methylmalonic acid, methylcitric acid, propionylcarnitine, and total homocysteine indicated combined MMA and homocysteinemia in the fetuses. One of the mothers continued pregnancy and received cobalamin supplement as prenatal treatment, and the other terminated her pregnancy. In one pregnancy, significantly elevated levels of methylmalonic acid, methylcitric acid, and propionylcarnitine, and normal level of total homocysteine was found indicating isolated MMA in the fetus; abortion was performed on this case. In the other six pregnancies, all the levels of the above mentioned metabolites were normal suggesting that the fetuses were not affected by MMA. The diagnoses were confirmed after delivery by testing urinary organic acids and plasma total homocysteine. The metabolic abnormalities of MMA occur early in gestation. The level of total

  4. Prenatal diagnosis of Meckel-Gruber syndrome in a pregnancy obtained with ICSI.

    PubMed

    Celentano, Claudio; Prefumo, Federico; Liberati, Marco; Gallo, Giuseppina; Di Nisio, Quirino; Rotmensch, Sigfried

    2006-06-01

    The association of occipital encephalocele, cleft palate, postaxial polydactyly, polycystic kidneys, and hepatic cysts is well known as Meckel-Gruber syndrome (MGS). Nowadays, the diagnosis of MGS is usually performed prenatally by ultrasound findings. MGS was previously described following in vitro fertilization. We report a case of MGS diagnosed at 17 weeks in a pregnancy obtained with intra-cytoplasmic sperm injection (ICSI).

  5. The Role of RNAs and microRNAs in Non-Invasive Prenatal Diagnosis

    PubMed Central

    Farina, Antonio

    2014-01-01

    In this paper, all possible clinical applications of circulating mRNA and miRNA for non-invasive prenatal diagnosis appearing in the medical literature so far are described. Data from the literature have also been reported and commented on along with some possible future applications. PMID:26237384

  6. Three-dimensional ultrasound in the prenatal diagnosis of osteogenesis imperfecta.

    PubMed

    Tsai, Pei-Yin; Chang, Chiung-Hsin; Yu, Chen-Hsiang; Cheng, Yueh-Chin; Chang, Fong-Ming

    2012-09-01

    Fetal osteogenesis imperfecta (OI) is a heterogeneous group of collagen disorders characterized by bone fragility, blue sclerae, deafness, and dentinogenesis imperfecta. Ultrasonography is acknowledged as a reliable diagnostic modality for the prenatal diagnosis of OI, especially type II. In the past, two-dimensional (2D) ultrasound (US) has been applied as the mainstay of prenatal diagnosis of OI. In this series, we report our work of detecting OI using three-dimensional (3D) US. We reviewed our computer database of prenatal diagnosis of OI at the National Cheng Kung University Hospital from April 1996 to July 2010. All the cases were scanned by 2D and 3D US. In total, six cases of fetal OI were diagnosed. Compared with 2D US, 3D US can detect fetal OI precisely, and provide additional vivid illustration after various modes of reconstruction that 2D US cannot. In conclusion, 3D US may contribute significantly to the detection of OI in utero and provide a novel visual depiction of this defect after reconstruction. The technique may thus substantially assist in prenatal diagnosis as well as consultations for fetal OI. Copyright © 2012. Published by Elsevier B.V.

  7. Influence of obstetricians' attitudes on their use of prenatal diagnosis for the detection of Down's syndrome.

    PubMed Central

    Lippman-Hand, A.; Cohen, D. I.

    1980-01-01

    Practising obstetricians were surveyed to determine the relation between their referral patterns and their knowledge and attitudes concerning prenatal diagnosis by amniocentesis for women aged 35 years and over. Although 82% had referred at least one eligible patient for prenatal diagnosis during the past year, almost none had used the available services for all appropriate patients. There was a statistically significant trend for increased referral as correct knowledge of the risks and accuracy of prenatal diagnosis increased. Moreover, a discriminant function combining risk and accuracy estimates, type and size of practice, and language distinguished the referrers from the nonreferrers (P = 0.0002), although there was considerable overlap between the physicians classified according to a high, moderate or low rate of referral. The data suggest that while knowledge and practice characteristics can distinguish obstetricians who refer patients for prenatal diagnosis from those who never do so, the frequency of referral may involve other factors, such as how physicians accept innovation and perceive risks. PMID:6455188

  8. Experiences of informational needs and received information following a prenatal diagnosis of congenital heart defect

    PubMed Central

    Bergman, Gunnar; Wadensten, Barbro; Mattsson, Elisabet

    2016-01-01

    Abstract Objective To explore the need for information and what information was actually received following prenatal diagnosis of a congenital heart defect, in a country where termination of pregnancy beyond 22 weeks of gestation is not easily possible because of legal constraints. Methods Twenty‐six Swedish‐speaking pregnant women (n = 14) and partners (n = 12) were consecutively recruited for semi‐structured telephone interviews following the prenatal diagnosis of a congenital heart defect. Data were analyzed using content analysis. Results Although high satisfaction with the specialist information was described, the information was considered overwhelming and complex. Objective, honest, and detailed information about multiple subjects were needed, delivered repeatedly, and supplemented by written information/illustrations. Eighteen respondents had used the Internet to search for information and identified issues involving searching difficulties, low quality, and that it was too complex, insufficient, or unspecific. Those who terminated their pregnancy criticized that there was a lack of information about termination of pregnancy, both from health professionals and online sources, resulting in unanswered questions and unpreparedness. Conclusion Individuals faced with a prenatal diagnosis of a congenital heart defect need individualized and repeated information. These needs are not all adequately met, as individuals are satisfied with the specialist consultation but left with unanswered questions regarding pregnancy termination. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. PMID:26991536

  9. [IDUA gene mutation analysis and prenatal diagnosis of two families affected with mucopolysaccharidosis type I].

    PubMed

    Yang, Xinyu; Mei, Shiyue; Kong, Xiangdong; Zhao, Zhenhua; Cai, Aojie; Yao, Jiameng; Li, Yiying; Qin, Zhi

    2017-06-10

    To analyze mutations of IDUA gene in two pedigrees affected with mucopolysaccharidosis type I and provide prenatal diagnosis for them. The 14 exons of the IDUA gene were subjected to PCR amplification and Sanger sequencing. For pedigree 1, the proband was found to harbor compound heterozygous mutations c.46-57delTCGCTCCTGGCC (p.Ser16_Ala19del) of exon 1 and c.1147delC (p.Arg383Alafs*57) of exon 8 of the IDUA gene, which were inherited from his father and mother, respectively. The latter was unreported previously. Prenatal diagnosis suggested that the fetus has carried a heterozygous c.46-57delTCGCTCCTGGCC mutation. For family 2, the proband was also found to carry compound mutations of the IDUA gene, namely c.721T to C (p.Cys241Arg) of exon 6 and c.1491delG (p.Thr497fs27) of exon 8, which were inherited from her mother and father, respectively. Neither mutation was reported previously. Prenatal diagnosis suggested that the fetus has carried a heterozygous c.721T to C mutation. Mutations of the IDUA gene probably underlie the MPS-I in both pedigrees. Above results have enriched the spectrum of IDUA gene mutations and facilitated prenatal diagnosis for both families.

  10. 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.

  11. Rapid prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography system.

    PubMed

    Shaw, Sheng-Wen; Cheng, Po-Jen; Chang, Shuenn-Dhy; Lin, Yu-Ting; Hung, Chia-Cheng; Chen, Chih-Ping; Su, Yi-Ning

    2008-01-01

    Use of Denaturing High-Performance Liquid Chromatography (DHPLC) in prenatal diagnosis of spinal muscular atrophy (SMA). Thirty-three members of 7 families participated in carrier test and disease detection of SMA. Prenatal genetic diagnosis was performed if both parents were carriers or any family members had SMA. DNA extracted from blood, chorionic villi and amniotic fluid was amplified and used for DHPLC. Twenty SMA carriers, seven SMA affected cases, and six normal individuals were identified. SMA status was demonstrated by genotyping and total copy number determinations of SMN1 and SMN2. Families 1-3 were classified as group one (SMA affecting previously born child). Group two, comprising families 4 and 5, had lost a child due to an unknown muscular disease. Group three (SMA-affected parent) comprised families 6 and 7; carrier testing was done. DHPLC prenatal genetic diagnosis was made in seven pregnancies, one in each family (affected, n=2; carrier, n=3; normal, n=2). Pregnancy was terminated for the two affected fetuses. The others were delivered uneventfully and SMA free. DHPLC prenatal diagnosis of SMA and determination of SMA status in adults is possible, and SMN1 and SMN2 copy numbers can be determined.

  12. Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment.

    PubMed

    Thuy, L P; Jurecki, E; Nemzer, L; Nyhan, W L

    1999-06-15

    Deficiency of holocarboxylase synthetase leads to multiple carboxylase deficiency, which is fatal in the absence of prompt diagnosis and treatment with biotin. In a pregnancy at risk for deficiency of holocarboxylase synthetase, prenatal diagnosis was performed by assay of the enzyme in chorionic villus material. The Km for biotin was 220.8 nmol/l, which was 33 times the control value of 6.6 nmol/l. Biotinyl AMP synthesis was undetectable in cultured chorionic villus material. Prenatal treatment of the mother was begun with 10 mg a day of biotin and continued through pregnancy. There was no accumulation of the characteristic metabolites in the urine at birth and prior to oral treatment of the newborn. Holocarboxylase synthetase activity was undetectable in lymphocytes and in fibroblasts of the newborn. Furthermore, the activities of all three carboxylases in fibroblasts of the infant were deficient. The newborn was clinically well and maintained on biotin treatment after birth at 20 mg per day. Carboxylase activities in lymphocytes were normal or slightly lower than the normal range.

  13. 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.

  14. Incidental Prenatal Diagnosis of Sex Chromosome Aneuploidies: Health, Behavior, and Fertility

    PubMed Central

    Pieters, J. J. P. M.; Kooper, A. J. A.; van Kessel, A. Geurts; Braat, D. D. M.; Smits, A. P. T.

    2011-01-01

    Objective. To assess the diagnostic relevance of incidental prenatal findings of sex chromosome aneuploidies. Methods. We searched with medical subject headings (MeSHs) and keywords in Medline and the Cochrane Library and systematically screened publications on postnatally diagnosed sex chromosomal aneuploidies from 2006 to 2011 as well as publications on incidentally prenatally diagnosed sex chromosomal aneuploidies from 1980 to 2011. Results. Postnatally diagnosed sex chromosomal aneuploidies demonstrated three clinical relevant domains of abnormality: physical (22–100%), behavior (0–56%), and reproductive health (47–100%), while incidentally prenatally diagnosed sex chromosomal aneuploidies demonstrated, respectively, 0–33%, 0–40%, and 0–36%. Conclusion. In the literature incidental prenatal diagnosis of sex chromosomal aneuploidies is associated with normal to mildly affected phenotypes. This contrasts sharply with those of postnatally diagnosed sex chromosomal aneuploidies and highlights the importance of this ascertainment bias towards the prognostic value of diagnosis of fetal sex chromosomal aneuploidies. This observation should be taken into account, especially when considering excluding the sex chromosomes in invasive prenatal testing using Rapid Aneuploidy Detection. PMID:22191050

  15. [Application study of droplet digital PCR to detect maternal cell contamination in prenatal diagnosis].

    PubMed

    Geng, J; Liu, C; Zhou, X C; Ma, J; Du, L; Lu, J; Zhou, W N; Hu, T T; Lyu, L J; Yin, A H

    2017-02-25

    Objective: To develop a new method based on droplet digital PCR (DD-PCR) for detection and quantification of maternal cell contamination in prenatal diagnosis. Methods: Invasive prenatal samples from 40 couples of β(IVS-Ⅱ-654)/β(N) thalassemia gene carriers who accepted prenatal diagnosis in Affiliated Women and Children's Hospital of Guangzhou Medical University from October 2015 to December 2016 were analyzed retrospectively. Specific primers and probes were designed. The concentration gradient were 50%, 25%, 12.5%, 6.25%, 3.125%, 1.562 5%. There were 40 groups of prenatal diagnostic samples. Comparing DD-PCR with quantitative fluorescent-PCR (QF-PCR) based on the short tandem repeats for assement of the sensitivity and accuracy of maternal cell contamination, respectively. Results: DD-PCR could quantify the maternal cell contamination as low as 1.562 5%. The result was proportional to the dilution titers. In the 40 prenatal samples, 6 cases (15%, 6/40) of maternal cell contamination were detected by DD-PCR, while the QF-PCR based on short tandem repeat showed 3 cases (7.5%, 3/40) with maternal cell contamination, DD-PCR was more accurate (P=0.002) . Conclusion: DD-PCR is a precise and sensitive method in the detection of maternal cell contamintation. It could be useful in clinical application.

  16. Evaluation of prenatal diagnosis of congenital anomalies diagnosable by prenatal ultrasound in patients in neonatal intensive care units of Cali, Colombia.

    PubMed

    Saldarriaga-Gil, Wilmar; Ruiz-Murcia, Fabián Andrés; Fandiño-Losada, Andrés; Cruz-Perea, Manuel Enrique; Isaza de Lourido, Carolina

    2014-01-01

    The study aim was to determine the frequency of prenatal ultrasound diagnosis of congenital anomalies in Newborns (NB) with birth defects hospitalized in two Neonatal Intensive Care Units (NICU) of Cali (Colombia) and to identify socio-demographic factors associated with lack of such diagnosis. It was an observational cross-sectional study. NB with congenital defects diagnosable by prenatal ultrasound (CDDPU), who were hospitalized in two neonatal intensive care units (NICU), were included in this study. A format of data collection for mothers, about prenatal ultra-sonographies, socio-demographic data and information on prenatal and definitive diagnosis of their conditions was applied. Multiple logistic and Cox regressions analyses were done. 173 NB were included, 42.8% of cases had no prenatal diagnosis of CDDPU; among them, 59.5% had no prenatal ultrasound (PNUS). Lack of PNUS was associated with maternal age, 25 to 34 years (Odds Ratio [OR]: 4.41) and 35 to 47 years (OR: 5.24), with low levels of maternal education (OR: 8.70) and with only a PNUS compared to having two or more PNUS (OR: 4.00). Mothers without health insurance tend to be delayed twice the time to access the first PNUS in comparison to mothers with payment health insurance (Hazard Ratio [HR]: 0.51). Among mothers who had PNUS, screening sensitivity of CDDPU after the 19(th) gestational week was 79.2%. The frequency of prenatal diagnosis is low and is explained by lack of PNUS, or by lack of diagnostic in the PNUS. An association between lack of PNUS and late age pregnancy and low level of maternal education was found. In addition, uninsured mothers tend to delay twice in accessing to the first PNUS in comparison to mothers with health insurance. It is necessary to establish national policies which ensure access to appropriate, timely and good quality prenatal care for all pregnant women in Colombia.

  17. Ectopia cordis with endocardial cushion defect: Prenatal ultrasonographic diagnosis with autopsy correlation

    PubMed Central

    Balakumar, K; Misha, K

    2010-01-01

    The prenatal ultrasonographic diagnosis of ectopia cordis associated with a complex intra-cardiac defect (common atrium, common atrioventricular valve with single ventricle) is illustrated in a 32-week gestation fetus. The fetus showed associated features of amniotic band disruption sequence. The cardiac autopsy findings correlated with the antenatal diagnosis. The association of ectopia cordis with amniotic band disruption is rare and infrequently reported in literature. PMID:21234197

  18. Ectopia cordis with endocardial cushion defect: Prenatal ultrasonographic diagnosis with autopsy correlation.

    PubMed

    Balakumar, K; Misha, K

    2010-07-01

    The prenatal ultrasonographic diagnosis of ectopia cordis associated with a complex intra-cardiac defect (common atrium, common atrioventricular valve with single ventricle) is illustrated in a 32-week gestation fetus. The fetus showed associated features of amniotic band disruption sequence. The cardiac autopsy findings correlated with the antenatal diagnosis. The association of ectopia cordis with amniotic band disruption is rare and infrequently reported in literature.

  19. 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.

  20. Prenatal diagnosis, birth location, surgical center, and neonatal mortality in infants with hypoplastic left heart syndrome.

    PubMed

    Morris, Shaine A; Ethen, Mary K; Penny, Daniel J; Canfield, Mark A; Minard, Charles G; Fixler, David E; Nembhard, Wendy N

    2014-01-21

    Most studies have not demonstrated improved survival after prenatal diagnosis of critical congenital heart disease, including hypoplastic left heart syndrome (HLHS). However, the effect of delivery near a cardiac surgical center (CSC), the recommended action after prenatal diagnosis, on HLHS mortality has been poorly investigated. Using Texas Birth Defects Registry data, 1999 through 2007, which monitored >3.4 million births, we investigated the association between distance (calculated driving time) from birth center to CSC and neonatal mortality in 463 infants with HLHS. Infants with extracardiac birth defects or genetic disorders were excluded. The associations between prenatal diagnosis, CSC HLHS volume, and mortality were also examined. Neonatal mortality in infants born <10 minutes from a CSC was 21.0%, 10 to 90 minutes 25.2%, and >90 minutes 39.6% (P for trend <0.001). Prenatal diagnosis alone was not associated with improved survival (P=0.14). In multivariable analysis, birth >90 minutes from a CSC remained associated with increased mortality (odds ratio, 2.03; 95% confidence interval, 1.19-3.45), compared with <10 minutes. In subanalysis, birth >90 minutes from a CSC was associated with higher pretransport mortality (odds ratio, 6.69; 95% confidence interval, 2.52-17.74) and birth 10 to 90 minutes with higher presurgical mortality (odds ratio, 4.45; 95% confidence interval, 1.17-17.00). Higher surgical mortality was associated with lower CSC HLHS volume (odds ratio per 10 patients, 0.88; 95% confidence interval, 0.84-0.91). Infants with HLHS born far from a CSC have increased neonatal mortality, and most of this mortality is presurgical. Efforts to improve prenatal diagnosis of HLHS and subsequent delivery near a large volume CSC may significantly improve neonatal HLHS survival.

  1. Trends in timing of prenatal diagnosis and abortion for fetal chromosomal abnormalities.

    PubMed

    Hume, Heather; Chasen, Stephen T

    2015-10-01

    Our objective was to evaluate changes in the timing of prenatal diagnosis and abortion for chromosomal abnormalities over the past 10 years. This retrospective review identified singleton pregnancies with fetal chromosomal abnormalities that were diagnosed from 2005-2014 and included Down syndrome, Trisomy 18, and Trisomy 13. The study period was divided into 3 intervals: 2005-2006; 2007-2011; and 2012-2014. Gestational ages at prenatal diagnosis and abortion were compared over these intervals. The 213 cases included 142 cases of Down syndrome (66.7%), 47 cases of Trisomy 18 (22.1%), and 24 cases of Trisomy 13 (11.3%). Two hundred one women (94.4%) chose to undergo abortion. The median gestational ages at prenatal diagnosis and abortion for Trisomy 18 or 13 were 12 weeks (interquartile range, 12-13 weeks) and 13 weeks (interquartile range, 12-15.5 weeks) and did not change over the study period. In contrast, in pregnancies with Down syndrome, the median gestational age at prenatal diagnosis (16, 13, and 12 weeks; P < .001) and abortion (17, 14, and 13 weeks; P < .001) both decreased significantly over the study intervals. In Down syndrome pregnancies, the proportion of women who underwent chorionic villus sampling significantly increased over the 3 study intervals (36%, 63%, and 86%; P < .001). Since 2005, the gestational ages at prenatal diagnosis and abortion for Down syndrome have declined significantly. These changes are likely attributable to improvements in early screening that leads to higher rates of chorionic villus sampling. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. Prenatal diagnosis of congenital heart defects: accuracy and discrepancies in a multicenter cohort.

    PubMed

    van Velzen, C L; Clur, S A; Rijlaarsdam, M E B; Pajkrt, E; Bax, C J; Hruda, J; de Groot, C J M; Blom, N A; Haak, M C

    2016-05-01

    To examine the accuracy of fetal echocardiography in diagnosing congenital heart disease (CHD) at the fetal medicine units of three tertiary care centers. This was a multicenter cohort study of tertiary echocardiography referrals between 2002 and 2012. Prenatal and postnatal diagnoses were compared and the degree of agreement was classified as 'correct' (anatomy correct and the postnatal diagnosis led to a similar outcome as expected), 'discrepant' (anatomical discrepancies present but the severity and prognosis of the defect were diagnosed correctly) or 'no similarity' (the pre- and postnatal diagnoses differed completely). We included 708 cases with CHD for which both prenatal and postnatal data were available. The prenatal diagnosis was correct in 82.1% of cases and discrepancies present were present in 9.9%; however, these did not result in a different outcome. In 8.1% there was no similarity between prenatal and postnatal diagnoses. Disagreement between pre- and postnatal diagnoses occurred significantly more frequently in cases that presented with a normal four-chamber view than in those with an abnormal four-chamber view (5.5% vs 1.9%). Incorrect identification of the outflow tracts and incorrect differentiation between unbalanced atrioventricular septal defect and hypoplastic left heart syndrome were relatively commonly encountered. In many cases with disagreement, trisomy 21, extracardiac anomaly or a high maternal body mass index was present. The prenatal diagnosis and estimated prognosis of fetal echocardiography in our tertiary referral centers were appropriate in 92% of cases. Some types of CHD remain difficult to diagnose or rule-out prenatally, therefore awareness and education are of considerable importance. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

  3. Usefulness of additional fetal magnetic resonance imaging in the prenatal diagnosis of congenital abnormalities.

    PubMed

    We, Ji Sun; Young, Lee; Park, In Yang; Shin, Jong Chul; Im, Soo Ah

    2012-12-01

    Our aim was to compare the value of fetal magnetic resonance imaging (MRI) with detailed ultrasound in the prenatal diagnosis of congenital abnormalities. This retrospective study reviewed the medical records of pregnant women and their neonates who, after ultrasound, were suspected to have congenital abnormalities. They then underwent a detailed ultrasound examination and a fetal MRI in our institutions. Fetal MRI was performed in 81 cases. Each prenatal presumptive diagnosis, based on detailed ultrasound examination and fetal MRI, was compared with the postnatal confirmed diagnosis. In 58 cases, the data collected were confirmed by the postnatal diagnosis. Supplemental information from fetal MRI was useful in 17 of the 22 cases involving the central nervous system (CNS), two of two cases involving the thorax, nine of nine cases involving the genitourinary system, two of eight cases involving the gastrointestinal system, and ten of ten cases involving complex malformations. Fetal MRI did not provide significantly useful information or facilitate a more accurate diagnosis except for CNS abnormalities. Fetal MRI was not superior to an ultrasound examination in the prenatal detection of congenital abnormalities. A detailed ultrasound examination performed by experienced obstetricians had satisfactory accuracy in the diagnosis of fetal abnormalities compared with fetal MRI. Fetal MRI might be useful in appropriate cases in Korea. Greater effort is required to increase the ultrasound knowledge and skill of competent obstetricians.

  4. Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series.

    PubMed

    Berceanu, Costin; Gheonea, Ioana Andreea; Vlădăreanu, Simona; Cîrstoiu, Monica Mihaela; Vlădăreanu, Radu; Mehedinţu, Claudia; Berceanu, Sabina; Ciortea, Răzvan; Brătilă, Elvira

    2017-01-31

    To present the systematic ultrasonographic assessment in fetal osteochondrodysplasias and to evaluate the fetal MRI intake, as a complementary exploration to US, in the prenatal diagnosis and perinatal prognosis of fetal nonlethal osteochondrodysplasias. Material and methods: In this tertiary multicentre study were included 37 cases diagnosed prenatally with various entities in the category of nonlethal fetal osteochondrodysplasias. The initial diagnosis was carried out by the routine or detailed ultrasound examination. Fetal MRI was accomplished for selected cases. Nonlethal skeletal dysplasia was suspected and then diagnosed after 17 gestational weeks. The suspicion of osteochondrodysplasia as a reference diagnosis element has required systematic and thorough ultrasound examination. Fetal MRI is a valuable exploration, complementary to prenatal ultrasound bringing in very useful details for the diagnosis of osteochondrodysplasias. The global diagnosis of skeletal dysplasia depends to a great extent on the genetic or biochemical abnormality that causes them. US is always the fundamental screening exploration for fetal assessment in nonlethal osteochondrodysplasias. The details brought by the fetal MRI are useful, and the exploration is harmless for the fetus and the mother. Certain diagnosis cannot be accurate and complete without the contribution of genetics, maternal and fetal medicine, obstetrics or radiology.

  5. Prenatal ultrasonic diagnosis and differential diagnosis of isolated right aortic arch with mirror-image branching.

    PubMed

    Gao, Junxue; Zhu, Jiaan; Pei, Qiuyan; Li, Jianguo

    2017-05-01

    This study sought to evaluate the fetal echocardiography features of isolated right aortic arch (RAA) with mirror-image branching and to improve the rate and accuracy of prenatal diagnosis of this condition. We reviewed fetal echocardiograms from all cases of isolated RAA with mirror-image branching diagnosed at our institution between August 2012 and December 2015 and classified these cases into normal and abnormal types of ductus arteriosus based on the course of the arterial duct arch. We confirmed the diagnoses by postnatal echocardiography. A total of 11 cases of isolated RAA with mirror-image branching, with the left ductus and the descending aorta located on the left side of the spine, were diagnosed using fetal echocardiography. Ten cases involved normal ductus arteriosus, with the left ductus connecting the left pulmonary artery to the descending aorta, five of which were referred to our institution for suspicions of double aortic aorta. 1 case involved abnormal ductus arteriosus, with the left ductus connecting the left pulmonary artery to the left innominate artery. RAA with mirror-image branching can be detected via fetal echocardiography, which can reveal the relationship between of the aortic arch and the trachea and can enable the identification of the course of brachiocephalic branching. The identification of isolated RAA with mirror-image branching is crucial for distinguishing this condition from other types of aortic arch anomalies, particularly double aortic aorta, which can have a rather different prognosis.

  6. Experiences of prenatal diagnosis and decision-making about termination of pregnancy: A qualitative study.

    PubMed

    Hodgson, Jan; Pitt, Penelope; Metcalfe, Sylvia; Halliday, Jane; Menezes, Melody; Fisher, Jane; Hickerton, Chriselle; Petersen, Kerry; McClaren, Belinda

    2016-12-01

    Advances in genetic technologies and ultrasound screening techniques have increased the ability to predict and diagnose congenital anomalies during pregnancy. As a result more prospective parents than ever before will receive a prenatal diagnosis of a fetal abnormality. Little is known about how Australian women and men experience receiving a prenatal diagnosis and how they make their decision about whether or not to continue the pregnancy. This qualitative study aims to describe parental experiences and examine how best to provide support after a prenatal diagnosis. Individual in-depth interviews were conducted with 102 women and men approximately six weeks post-diagnosis of fetal abnormality. Data were elicited using a narrative, chronological approach and women (n = 75) and a sample of male partners (n = 27) were separately interviewed. Thematic analysis, involving a rigorous process of qualitative coding, enabled iterative development and validation of emergent themes. Participants identified that the shock of the diagnosis can be lessened when good care is delivered, by provision of: clear, accurate and respectful communication; empathic, non-judgemental, professional support; timely access to further testing and appointments; seamless interactions with services and administration; appropriate choices about invasive testing; acknowledgment of the enormity and unexpected nature of the diagnosis, and of the subsequent decision-making challenges; and discussion of the myriad feelings likely to emerge throughout the process. This study has demonstrated the importance of providing timely access to accurate information and supportive, non-judgemental care for women and their partners following prenatal diagnosis of a fetal abnormality. © 2016 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  7. Current status of prenatal diagnosis in Cuba: causes of low prevalence of Down syndrome.

    PubMed

    Méndez-Rosado, L A; Hechavarría-Estenoz, D; de la Torre, M E; Pimentel-Benitez, H; Hernández-Gil, J; Perez, B; Barrios-Martínez, A; Morales-Rodriguez, E; Soriano-Torres, M; Garcia, M; Suarez-Mayedo, U; Cedeño-Aparicio, N; Blanco, I; Díaz-Véliz, P; Vidal-Hernández, B; Mitjans-Torres, M; Miñoso, S; Alvarez-Espinosa, D; Reyes-Hernández, E; Angulo-Cebada, E; Torres-Palacios, M; Lozano-Lezcano, L; Lima-Rodriguez, U; Mayeta, M; Noblet, M; Benítez, Y; Lardoeyt-Ferrer, R; Yosela-Martin, S; Carbonell, P; Pérez-Ramos, M; de León, N; Perez, M; Carbonell, J

    2014-11-01

    To analyze trends in cytogenetic prenatal diagnosis in Cuba and to analyze possible causes leading to a low Down syndrome prevalence in a country where the triple test is not available. An analysis of the Cuban program in prenatal cytogenetic diagnosis from 1984 to 2012 was conducted. Results are described, with particular emphasis on indications, abnormal results, types of invasive procedures, and terminations of pregnancy. Cytogenetic prenatal diagnostic analyses (n = 75,095) were conducted; maternal age was the indication for 77.9% of the amniocenteses and chorionic villus samplings. The detection rate of chromosomally abnormal pregnancies was 2.3% for maternal age and increased to 8-9% for other indications. When a chromosomal abnormality was identified, 88.5% terminated the pregnancy. In 2002, the live birth prevalence of Down syndrome was 8.4 per 10,000 live births, and in 2012, 7 per 10,000. Prenatal diagnosis in Cuba has contributed to a significant reduction in chromosomal aberrations. The impact increased because of the demographic trends of the population, the high index of terminations of pregnancy, and the establishment of a network of cytogenetic laboratories throughout Cuba. © 2014 John Wiley & Sons, Ltd.

  8. 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.

  9. Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.

    PubMed

    Cavicchi, C; Donati, M A; Funghini, S; la Marca, G; Malvagia, S; Ciani, F; Poggi, G M; Pasquini, E; Zammarchi, E; Morrone, A

    2006-01-01

    Genetic and biochemical prenatal diagnosis was performed at 11 weeks of gestation in a family with a proband affected by mut methylmalonic aciduria (MMA) and homozygotes for the MUT gene c.643G>A (p.Gly215Ser) mutation. Both chorionic villus and amniotic fluid samples were used. The presence of high levels of methylmalonic acid and propionylcarnitine determined by gas chromatography/mass spectrometry and LC/MS/MS analysis, respectively, and the identification of the p.Gly215Ser at a homozygous level in foetal DNA allowed a certain, rapid and early diagnosis. To our knowledge, this is the first mut MMA prenatal diagnosis carried out by genetic and biochemical approach.

  10. 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

  11. Role of 3D power Doppler sonography in early prenatal diagnosis of Galen vein aneurysm

    PubMed Central

    Ergenoğlu, Mete Ahmet; Yeniel, Ahmet Özgür; Akdemir, Ali; Akercan, Fuat; Karadadaş, Nedim

    2013-01-01

    Vein of Galen aneurysm malformation (VGAM) is a rare congenital vascular anomaly. Although the cause of VGAM remains to be elucidated, the current hypothesis is persistence of the embryonic vascular supply, which leads to progressive enlargement and formation of the aneurysmal component of a typical VGAM. Here, we present a 36-year-old woman at 23 weeks’ gestation (gravida 3, para 2) who was evaluated using 3D power Doppler sonography for the prenatal diagnosis of a vein of Galen aneurysm. Investigation using 3D power Doppler sonography allowed for a non-invasive yet diffuse and detailed prenatal assessment of VGAM. Thus, we suggest that prenatal sonography with 3D power Doppler may be an option in cases of VGAM. PMID:24592100

  12. Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign.

    PubMed

    Garel, Catherine; Dhouib, Amira; Sileo, Chiara; Cormier-Daire, Valérie; Ducou le Pointe, Hubert

    2014-03-01

    Metatropic dysplasia is a very rare form of osteochondrodysplasia with only one case of prenatal diagnosis described in the literature. It is characterized by marked shortening of the long bones with severe platyspondyly and dumbbell-shape metaphyses. We report a case of metatropic dysplasia that was diagnosed prenatally and describe the findings on US and CT. The pregnancy was terminated and the post-mortem radiographs are shown. The woman had been referred for short and bowed long bones. Severe metaphyseal enlargement was a misleading finding because it had been misinterpreted as limb bowing. Thus when abnormal curvature of the long bones is observed at prenatal US, attention should be drawn not only to the diaphyses but also to the metaphyses because severe metaphyseal enlargement might be responsible for pseudo-bowing.

  13. [Application of multiplex ligation-dependent probe amplification technique in prenatal diagnosis of α-thalassemia].

    PubMed

    Hao, Ying; Xu, Xiaoxin; Xu, Zhiyong; Jiang, Niping; Wu, Weiqing; Jin, Qing; Yin, Shanshan; Cai, Yun; Xie, Jiansheng

    2015-10-01

    OBJECTIVE To assess the application value of multiplex ligation-dependent probe amplification (MLPA) for the detection of gene deletion and prenatal diagnosis of α-thalassemia. METHODS MLPA was applied for 2 cases with α-thalassemia phenotype by whole blood cell counting and hemoglobin component detection but were ruled out by regular molecular diagnosis. Potential gene deletions and point mutations of α-thalassemia gene were detected with regular Gap-polymerase chain reaction (Gap-PCR) and reverse dot blotting (RDB) in 89 cases where one or both partners were carriers of α-thalassemia mutations. Meanwhile, MLPA was used for detecting α-globin gene deletion among the 89 samples. RESULTS For the 2 cases with α-thalassemia phenotype, no α globin gene deletion was detected by MLPA, but were subsequently confirmed as iron-deficiency anemia. The results of MLPA and Gap-PCR detection for the 88 cases were consistent, except for 1 fetal sample (chorionic villi) which could not be diagnosed by Gap-PCR and was confirmed to be - SEA/αα by MLPA. CONCLUSION MLPA can be applied to prenatal diagnosis of α-thalassemia as an effective supplement to Gap-PCR to reduce both misdiagnosis and missed diagnosis and improve the accuracy of prenatal diagnosis.

  14. Holoprosencephaly at prenatal diagnosis: analysis of 28 cases regarding etiopathogenic diagnoses.

    PubMed

    Petracchi, F; Crespo, L; Michia, C; Igarzabal, L; Gadow, E

    2011-09-01

    To assess the likelihood of finding an etiopathogenic cause in an ultrasonographic prenatal diagnosis of holoprosencephaly. From January 1996 to June 2010, 13 883 prenatal diagnoses through chorionic villus sampling or amniocentesis were made. Every fetus with holoprosencephaly at ultrasound was evaluated. Gestational age, additional ultrasound findings, and fetal karyotype were recorded. Molecular diagnosis and parental karyotype were studied, if relevant. Twenty-eight fetuses were diagnosed with holoprosencephaly (0.20%). All cases had additional ultrasound findings (100%). A definitive etiology was found in 23 cases (82.14%): karyotype was abnormal in 19 (67.9%) and normal in 8 (28.5%) cases. In the normal karyotype group, although molecular testing was performed in a few cases, one mutation of gene SIX 3 was diagnosed, one diagnosis of dysgnathia complex was made, and two fetuses presented Smith-Lemli-Opitz syndrome. No etiopathogenic diagnosis was made in five fetuses. Our results showed that a definitive etiology can be established in most cases of prenatal holoprosencephaly. Chromosomal anomalies were the most frequent finding. However, in euploid fetuses, molecular diagnosis is worthwhile, as different genes with different inheritance patterns may be responsible for this malformation. Thorough evaluation proved beneficial for assessing more accurate prognosis and recurrence risks. Copyright © 2011 John Wiley & Sons, Ltd.

  15. Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP).

    PubMed

    Francoual, Jeanne; Trioche, Pascale; Mokrani, Chahnez; Seboui, Hassen; Khrouf, Naïma; Chalas, Jacqueline; Clement, Marina; Capel, Liliane; Tachdjian, Gérard; Labrune, Philippe

    2002-10-01

    Crigler-Najjar syndrome type I (CN-I) is a rare and severe inherited disorder of bilirubin metabolism, caused by the total deficiency of bilirubin-UDP-glucuronosyltransferase (UGT) activity. Enzymatic diagnosis cannot be performed in chorionic villi or amniocytes as UGT is not active in these tissues. The cloning of the UGT1 gene and the identification of disease-causing mutations have led to the possibility of performing DNA-based diagnosis. Here we report DNA-based prenatal diagnosis of CN-I in two Tunisian families in whom CN-I patients were diagnosed. As we had previously shown that CN-I was, in Tunisia, associated with homozygosity for the Q357R mutation within the UGT1 gene, we were able to detect this mutation in both families and to show that it was easily recognized by single-strand conformation polymorphism (SSCP) analysis. In both cases, SSCP analysis of fetal DNA showed that the fetus was heterozygous for the Q357R mutation. In one family, the pregnancy was carried to term and a healthy baby was born, whereas, in the other family, the pregnancy is still continuing. Thus the prenatal diagnosis of CN-I is possible, provided disease-causing mutations have been identified. SSCP analysis of DNA prepared either from amniocytes or from chorionic villi is a simple, reliable and fast method for prenatal diagnosis. Copyright 2002 John Wiley & Sons, Ltd.

  16. Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome.

    PubMed Central

    Koeberl, D D; McGillivray, B; Sybert, V P

    1995-01-01

    The prognosis for 45,X/46,XX mosaicism diagnosed prenatally has yet to be established. We report our experience with 12 patients in whom prenatal diagnosis of 45,X/46,XX mosaicism was detected by amniocentesis for advanced maternal age or decreased maternal serum alpha-feto protein and compared them with 41 45,X/46,XX patients diagnosed postnatally. The girls in the prenatal group range in age from 3 mo to 10 years. All have had normal linear growth. Four had structural anomalies including: ASD (n = 1); ptosis and esotropia (n = 1); labial fusion (n = 1); and urogenital sinus, dysplastic kidneys, and hydrometrocolpos (n = 1). Gonadotropins were measured in seven; one had elevated luteinizing hormone/FSH at 3 mo of age. One has developmental delay and seizures as well as ophthalmologic abnormalities. None would have warranted karyotyping for clinical suspicion of Turner syndrome. The prevalence of 45,X/46,XX mosaicism is 10-fold higher among amniocenteses than in series of postnatally diagnosed individuals with Turner syndrome, which suggests that most individuals with this karyotype escape detection and that an ascertainment bias exists toward those with clinically evident abnormalities. The phenomenon of a milder phenotype for the prenatal group is similar to that observed for 45,X/46,XY diagnosed prenatally. Prenatal counseling for 45,X/46,XX in the absence of such ultrasound abnormalities as hydrops fetalis should take into account the expectation of a milder phenotype (except, possibly, with respect to developmental delay) than that of patients ascertained postnatally. The same does not hold true for 45,x diagnosed prenatally. PMID:7668295

  17. Cell-free fetal DNA in amniotic fluid supernatant for prenatal diagnosis.

    PubMed

    Soltani, M; Nemati, M; Maralani, M; Estiar, M A; Andalib, S; Fardiazar, Z; Sakhinia, E

    2016-04-30

    In widespread conviction, amniotic fluid is utilized for prenatal diagnosis. Amniotic fluid supernatant is usually discarded, notwithstanding being a good source of fetal DNA. The aim of the present study was to assess cell-free fetal DNA extracted from amniotic fluid supernatant for application in prenatal diagnosis such as gender determination and early diagnosis of β-thalassemia. Samples of amniotic fluid of 70 pregnant women were collected and went through routine tests along with tests for cell-free fetal DNA from amniotic fluid supernatant. The DNA in the amniotic fluid supernatant was extracted and analyzed for gender determination by PCR and Real-time PCR. ARMS-PCR was applied to test early diagnosis of IVS II-I mutation (common β-thalassemia mutation) and E7V mutation for sickle cell anemia using DNA extracted from the amniotic fluid supernatant. Using the cell-free fetal DNA extracted from the amniotic fluid supernatant, the sensitivity of PCR and Real-time PCR for gender detection was compared with the routine cytogenetic method. The fetus tested for sickle cell anemia and β-thalassemia was observed to be healthy but heterozygous for IVS II-I mutation. The findings indicated that cell-free fetal DNA from amniotic fluid supernatant can be a good source of fetal DNA and be used in early prenatal diagnosis since because of its fast and accurate application. Therefore, it would be suggested that the amniotic fluid supernatant's disposal is prevented because if the tests needs to be repeated, cell-free fetal DNA extracted from the amniotic fluid supernatant can be used as an alternative source for prenatal diagnosis.

  18. The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents' Experiences.

    PubMed

    van der Steen, S L; Riedijk, S R; Verhagen-Visser, J; Govaerts, L C P; Srebniak, M I; Van Opstal, D; Joosten, M; Knapen, M F C M; Tibben, A; Diderich, K E M; Galjaard, R J H

    2016-12-01

    Genomic microarray may detect susceptibility loci (SL) for neurodevelopmental disorders such as autism and epilepsy, with a yet unquantifiable risk for the fetus. The prenatal disclosure of susceptibility loci is a topic of much debate. Many health care professionals fear that reporting susceptibility loci may put a psychological burden on pregnant couples. It is our policy to disclose prenatal susceptibility loci as we recognize them as actionable for prospective parents. The aim of this report was to evaluate the psychological impact of disclosing a prenatal diagnosis of susceptibility loci. The psychological impact of disclosing susceptibility loci was evaluated in the first patients who received such results. Eight out of 15 women who had a susceptibility locus disclosed and four of their partners consented to share their experiences through a telephonic evaluation (n = 12). Follow-up time ranged from 3 to 15 months after their prenatal test result. The reporting of susceptibility loci was initially 'shocking' for five parents while the other seven felt 'worried'. Ten out of 12 participants indicated they would like to be informed about the susceptibility locus again, two were unsure. Most had no enduring worries. Participants unanimously indicated that pregnant couples should have an individualized pre-test choice about susceptibility loci (non)disclosure. We observed no negative psychological impact with the prenatal diagnosis and disclosure of SL on participants. A key factor in mitigating parental anxiety with SL disclosure appears to be post-test genetic counseling. Our report confirms that pregnant women and their partners prefer an individualized choice regarding the scope of prenatal testing.

  19. [Mutation screening and prenatal diagnosis of methylmalonic academia in a Chinese pedigree by Ion Torrent semiconductor sequencing].

    PubMed

    Li, Li; Ma, Dingyuan; Sun, Yun; Zhang, Jingjing; Wang, Yuguo; Jiang, Tao; Xu, Zhengfeng

    2016-04-01

    To identify pathogenic mutations in a Chinese pedigree affected with methylmalonic academia for genetic counseling and prenatal diagnosis. Molecular analysis of the MUT, MMACHC, MMAA and MMAB genes was performed for the proband with methylmalonic academia by Ion Torrent semiconductor sequencing. Candidate mutations were validated by Sanger sequencing. The couple was offered prenatal diagnosis via analyzing of the fetal DNA through amniocentesis. The proband was found to be compound heterozygous for c.609G>A (p.Trp203X) and c.658-660del AAG (p.Lys220del) mutations, which were inherited respectively from each of his parents. Prenatal diagnosis showed that the fetus has inherited two wild-type parental alleles. The targeted Ion Torrent PGM sequencing has detected pathogenic mutations in the Chinese pedigree affected with methylmalonic academia, which has provided molecular evidence for clinical diagnosis, genetic counseling and prenatal diagnosis for the family.

  20. [Mutation analysis of WASP gene and prenatal diagnosis of Wiskott-Aldrich syndrome].

    PubMed

    Liu, Ning; Shi, Huirong; Kong, Xiangdong; Wu, Qinghua; Xu, Xueju; Bai, Qiaoling; Feng, Yin; Zhao, Zhenhua

    2014-09-01

    Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by microthrombocytopenia, eczema, recurrent infections, and an increased incidence of autoimmunity and malignancies. The patients always have a severe clinical phenotype that can result in death if not diagnosed and treated early in life. The treatment of choice with the best outcome is hematopoietic stem cell transplantation, preferably from a matched related donor. But uncertain treatment effect and high treatment cost limit its clinical application. It is the best strategy that avoiding birth of a fetus with defect through prenatal diagnosis at present. This study aimed to analyze the mutation of WASP gene in 4 Chinese families with WAS and to provide prenatal diagnosis for the high-risk fetus. The probands of the four WAS families were all males, one of whom was deceased but had a family history and clinical datas integrated. All the patients were detected with blood routine tests, immunological tests and bone marrow examination. PCR and bilateral direct sequencing of PCR product was carried out in the regions of exon and exon-intron boundaries of WASP gene for 3 probands, 4 mothers and 100 unrelated healthy individuals as control. Prenatal diagnosis was provided for the two fetuses at the first trimester by mutation analysis. Four WASP gene mutations were detected: c.91A > G (p.E31K), c.665C > T (p.R211X), c.397G > A (p.E133K), c.952-953delCC (p. P317fsX18), among which c.952-953delCC (p. P317fsX18) was first reported. Mothers in Family 2, 3 and 4 were carriers of WASP gene mutation, but family 1 was considered as a de-novo mutation. None of the 100 unaffected subjects had the above mutants. Prenatal diagnosis indicated that the fetus in family 2 was male and carried the same mutation as the proband, so the fetus was presumably to be a patient. The parents decided to receive an induced abortion. Following the termination of the pregnancy, the result of gene analysis of the

  1. Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.

    PubMed

    Zong, Yanan; Liu, Ning; Zhao, Zhenhua; Kong, Xiangdong

    2015-07-07

    Combined methylmalonic aciduria and homocystinuria, cobalamin(cbl)C deficiency, is a rare disorder of intracellular vitamin B12(cbl) metabolism caused by mutations in the MMACHC gene. Both genetic and biochemical approach have been established to diagnose children and fetuses with cblC deficiency, while in China there is no report of prenatal genetic diagnosis of cblC deficiency. The aim of the present study was to characterize the mutational spectrum of cblC deficiency and investigate the feasibility of genetic-sequencing-based prenatal diagnosis for cblC deficiency. 10 pedigrees were recruited in this study with the probands clinically and biochemically confirmed combined methymalonic aciduria and homocystinuria. Peripheral blood samples were collected for MMACHC genetic test from the probands and their parents (4 probands had already dead) and 50 control subjects. The entire coding region and adjacent splice sites of MMACHC were sequenced. After the genotypes of the pedigrees were identified, chorionic villi sampling were performed for 3 high-risk pregnant women for prenatal genetic diagnosis. A total of 7 mutations were identified: c.217C > T (R73X), c.394C > T (R132X), c.463G > C (G155R), c.609G > A (W203X), c.616C > T (R206W), c.658-660delAAG (220delK), and c.567dupT (I190YfsX13), as well as 2 polymophsims: c.321G > A(V107V), c.-302G > T. And G155R is a novel mutation that haven't been reported in the literatures. All the 6 probands identified with compound heterozygous mutations or homozygous mutations of MMACHC gene, and all the parents of the probands were found to have one MMACHC mutation at a heterozygous level. Prenatal diagnosis of fetuses from 3 families with a child affected cblC deficiency showed that one fetus had the same compound heterozygous mutations as the proband, one did not have MMACHC mutation, and the third fetus had a mutation at a heterozygous level of MMACHC gene. Results from the follow-ups were consistent

  2. [Prenatal diagnosis of skeletal dysplasia in first trimester of pregnancy X-linked dominant chondrodysplasia punctata].

    PubMed

    Polák, P; Baxová, A; Křepelová, A; Balák, M

    2014-06-01

    Case report describes successful prenatal diagnosis of skeletal dysplasia in the first trimester of pregnancy in a female patient affected with X-linked dominat chondrodysplasia punctata (CDPX2). Her first pregnancy was terminated in the second trimester due to skeletal dysplasia of the foetus. The diagnosis in the following pregnancy was finished in the first trimester - before the end of the 13th gestational week. The diagnosis was established on the basis of ultrasonographic (US) examination and mutation analysis of the EBP gene in the material of chorionic villus sampling (CVS).

  3. Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects.

    PubMed

    Wilson, R Douglas

    2014-10-01

    To provide obstetrical and genetic health care practitioners with guidelines and recommendations for prenatal screening, diagnosis, and obstetrical management of fetal open and closed neural tube defects (OCNTD). This review includes prenatal screening and diagnostic techniques currently being used for the detection of OCNTD including maternal serum alpha fetoprotein screening, ultrasound, fetal magnetic resonance imaging, and amniocentesis. To improve prenatal screening, diagnosis, and obstetrical management of OCNTD while taking into consideration patient care, efficacy, cost, and care procedures. Published literature was retrieved through searches of PubMed or MEDLINE, CINAHL, and The Cochrane Library in November, 2013, using appropriate controlled vocabulary and key words (e.g., prenatal screening, congenital anomalies, neural tube defects, alpha fetoprotein, ultrasound scan, magnetic resonance imaging). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies published in English from 1977 to 2012. Searches were updated on a regular basis and incorporated in the guideline to November 30, 2013. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. An online survey of health care practitioners was also reviewed. The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table). This review will provide health care practitioners with a better understanding of the available prenatal screening methods for OCNTD and the benefits and risks associated with each technique to allow evidenced-based decisions on OCNTD screening, diagnosis, and obstetrical management.

  4. 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

  5. [Abdominal wall defects from 1961 to 2000--incidence, prenatal diagnosis and prevalence by maternal age].

    PubMed

    Sípek, A; Gregor, V; Horácek, J; Masátová, D

    2002-09-01

    Presentation of defects of the abdominal wall--omphalocele and gastroschisis--in the Czech Republic during 1961 to 2000. Analysis of the prevalence of these defects in different groups by maternal age. Retrospective demographic epidemiological study. Institute for the Care of Mother and Child, Prague. Data from the nationwide registration of congenital defects were used which are kept in the Institute for Health Information and Statistics of the CR and data on the prenatal diagnosis from different departments of medical genetics. Epidemiological analysis of the incidence of defects of the abdominal wall--omphalocele and gastroschisis, diagnosed pre- and postnatally in the Czech Republic in 1961-2000. For the mathematical and statistical analysis of the prevalence of these defects by maternal age the method of calculation of the 95% confidence interval of probability was used. In the Czech Republic during the period of 1961-2000 a total of 2293 cases of abdominal wall defects were registered. From this total number of notified defects 1915 cases were diagnosed after delivery, prenatal diagnosis was made in 378 cases and pregnancy was therefore terminated prematurely. From the total number of abdominal wall defects there were 1450 cases of omphalocele (incl. 136 prenatally diagnosed cases) and 843 cases of gastroschisis (incl. 242 cases diagnosed prenatally). The authors found a significant decrease in the incidence in the neonatal population of the Czech Republic due to the advances of prenatal diagnosis in the recent decade. As regards omphalocele there is a significantly higher risk in women older than 39 years, in the case of gastroschisis there is a higher risk for women under 18 years and women above 39 years.

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

    PubMed

    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

    2015-10-01

    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. 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. 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. 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. SZMC, Protalix Biotherapeutics Inc., and Centogene AG.

  7. 45,X/46,XY mosaicism: contrast of prenatal and postnatal diagnosis.

    PubMed

    Wheeler, M; Peakman, D; Robinson, A; Henry, G

    1988-03-01

    The process of prenatal diagnosis is unique in that the diagnosis and prognosis are made without seeing the patient. 45,X/46,XY mosaicism presents a special problem in this regard. The phenotype of 45,X/46,XY postnatally diagnosed children (pediatric group) was compared to that of 6 fetuses who were diagnosed from 7,000 amniocenteses (prenatal group). These amniocenteses were performed primarily because of an increased risk of chromosome abnormality. The pediatric group (age birth-18 yr) were all phenotypically abnormal, although none were mentally retarded. Seven patients presented with ambiguous genitalia, while 2 had primary amenorrhea. Sexual assignment was changed in 2. Abnormalities included rudimentary phallus, urogenital sinus, hypospadias, undescended testes, and short stature. All 9 patients required at least one surgical procedure. In contrast, the prenatally diagnosed fetuses (ages 3 months to 3 1/2 yr) were all phenotypically normal males. Four were noted to have male genitalia on ultrasonography. Thus, the phenotype of 45,X/46,XY mosaicism in prenatally diagnosed fetuses can be markedly different from that of individuals diagnosed postnatally. This must be considered when counseling patients.

  8. Non-invasive Prenatal Diagnosis for BRCA Mutations - a Qualitative Pilot Study of Health Professionals' Views.

    PubMed

    Bennett, Jade; Chitty, Lyn; Lewis, Celine

    2016-02-01

    Non-invasive prenatal diagnosis (NIPD) is a rapidly advancing approach that allows diagnostic testing based on analysis of cell free DNA in maternal plasma. This study aimed to explore the views of health professionals regarding the use of NIPD for BRCA1/2 mutations. Qualitative semi-structured interviews were conducted with eight participants. Whilst participants viewed NIPD in general as a positive step forward in prenatal testing, they were cautious about its use for BRCA testing. Significant ethical concerns emerged regarding testing prenatally for an adult onset condition, that is not fully penetrant, and the possibility of abrogating the rights of the future child to genetic autonomy. Nevertheless, participants did identify some situations whereby the test might be beneficial, such as for individuals with very negative and traumatic personal experiences of cancer desiring reassurance or wanting to prevent passing on the condition. NIPD was also seen as having benefits over invasive testing and pre-implantation genetic diagnosis, the only other options currently available to test prenatally for this condition. Exploring the views of a wider range of clinical specialties as well as patients at risk of hereditary breast cancer would be beneficial.

  9. [Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].

    PubMed

    Hu, Hao; Wang, Hua; Jia, Zhengjun; Xie, Qiong

    2014-08-01

    To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA). Direct sequencing of TYR and P genes was performed in two albino probands. Family members were screened for corresponding mutant alleles. Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through amniocentesis. No mutations were detected in the TYR gene in either probands, whereas 4 heterozygous mutations of the P gene were found, namely c.406C>T, c.535A>G, c.808-2A>G and c.2180T>C, among which c.535A>G and c.808-2A>G were novel. In the first round prenatal genetic testing, both fetuses were found to have the same genotypes as the probands. Both families had decided to terminate the pregnancy after genetic counseling. In the second round testing, neither of the fetuses was found to be affected by genotyping. The pregnancies continued and two healthy fetuses were born. OCA can be classified by genotyping, with which reliable prenatal diagnosis and feasible genetic counseling may be provided.

  10. Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4

    PubMed Central

    Cine, Naci; Erdemoglu, Mahmut; Atay, Ahmet Engin; Simsek, Selda; Turkyilmaz, Aysegul; Fidanboy, Mehmet

    2013-01-01

    Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0) referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH). However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb) and 4q35.2 (2.449 Mb). In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis. PMID:24455347

  11. Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.

    PubMed

    Tessier, Aude; Sarreau, Mélie; Pelluard, Fanny; André, Gwenaelle; Blesson, Sophie; Bucourt, Martine; Dechelotte, Pierre; Faivre, Laurence; Frébourg, Thierry; Goldenberg, Alice; Goua, Valérie; Jeanne-Pasquier, Corinne; Guimiot, Fabien; Laquerriere, Annie; Laurent, Nicole; Lefebvre, Mathilde; Loget, Philippe; Maréchaud, Martine; Mechler, Charlotte; Perez, Marie-Josée; Sabourin, Jean Christophe; Verloes, Alain; Patrier, Sophie; Guerrot, Anne-Marie

    2016-12-01

    Fraser syndrome (FS) is a rare malformation recessive disorder. Major criteria are cryptophtalmos, syndactyly, respiratory, genital and urinary tract anomalies. Few prenatal presentations have been reported. We analyzed the prenatal and postnatal fetal phenotype in 38 cases of FS, including 25 pregnancy termination cases, 8 intra-uterine death cases and 4 cases that died after birth. Including both prenatal and postnatal fetal phenotypic evaluation, all cases presented dysmorphic features with nose and ear dysplasia. Renal anomalies and syndactyly were present in 37/38 cases, cryptophtalmos in 36/38, airways anomalies in 30/37 and genital anomalies in 30/35 cases. Anomalies of the abdominal wall such as low set umbilicus and omphalocele were found in 31 cases. Among the 26 cases for which ultrasound data were available, detectable anomalies included oligohydramnios (22), ascites/hydrops (9), renal anomalies (20), evidence for high airways obstruction (11), ophthalmologic anomalies (4), ear dysplasia (2) and syndactyly (2). This study shows that the postnatal phenotype of FS is very specific, whereas oligohydramnios hampers the prenatal recognition of the cardinal FS diagnosis criteria. Association of oligohydramnios, kidney agenesis and CHAOS should lead to consider this diagnosis. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  12. 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.

  13. Accuracy of Prenatal Diagnosis in Elective Termination of Pregnancy: 385 Cases from 2000 to 2007

    PubMed Central

    Ramos, Fabiana; Maia, Sofia; Branco, Miguel; Raposo, Joana; Sá, Joaquim; Sousa, Sérgio; Venâncio, Margarida; Pina, Raquel; Galhano, Eulália; Ramos, Lina; Saraiva, Jorge

    2011-01-01

    Objective. To evaluate the quality of prenatal results in all cases of termination of pregnancy (TOP) due to fetal abnormalities in a tertiary prenatal diagnosis center. Material and Methods. Retrospective analysis of the 385 TOP performed on our department due to fetal abnormalities between January 1, 2000, and December 31, 2007. We compared all data for agreement between the ultrasound, genetic, and postmortem findings, regarding the abnormalities identified in the etiological diagnosis and its prognosis. Results. Chromosome abnormalities were the most common indication for TOP (39%), followed by abnormalities of CNS (20%), monogenic disorders (11%), sequences (9.6%), polimalformative syndromes (5.2%), and isolated congenital heart diseases (4%). Total agreement was 21%. Further abnormalities were identified in 79%. The data collected after TOP changed the etiologic diagnosis in 21% but the prognosis was changed in only one fetus. Discussion. This study corroborates the necessity of a multidisciplinary team in prenatal diagnosis centers. Their work remarkably improves the genetic counseling and represents an important aspect in quality control of the information given to a couple previously to a TOP. PMID:21637361

  14. 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.

  15. [Mass spectrometry combined with gene analysis for prenatal diagnosis of glutaric acidemia type Ⅰ].

    PubMed

    Han, F; Han, L S; Ji, W J; Chen, T; Xu, F; Wang, Y; Ye, J; Qiu, W J; Zhang, H W; Jiang, Y Z; Hou, C; Gu, X F

    2017-07-02

    Objective: To investigate the value of amniotic fluid metabolite detection by mass spectrometry combined with gene mutation analysis in the prenatal diagnosis of glutaric acidemia type Ⅰ (GA-Ⅰ). Method: From January 2009 to December 2016, Department of Pediatric Endocrinology and Genetic, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine carried out prenatal diagnosis for 24 cases of pregnant women with GA-Ⅰproband. 24 pregnant women without organic acidemia proband for conventional prenatal diagnosis at the same period were used as the control group. The pregnant women of the two groups had the amniocentesis at 16 to 20 weeks of gestation.The levels of glutaryl carnitine (C5DC) and octanoylcarnitine (C8) in amniotic fluid were detected by tandem mass spectrometry, and the levels of glutaric acid was determined by gas chromatography-mass spectrometry. All the amniotic fluid cells underwent GCDH gene testing. Result: A total of 4 cases of fetuses were diagnosed by gene mutation analysis combined with mass spectrometry detection, the levels of C5DC (1.58(0.89-2.85) μmol/L), C5DC/C8 (19.74(12.40-25.93))and glutaric acid (129.96 (90.09-66.02) mmol/mol Cr) were significantly higher than the upper limit of the reference, of which in one case with the proband only on mutation was detected, and in the amniotic fluid cells also only one mutation was detected, the diagnosis was made according to the significantly increased levels of amniotic fluid C5DC, C5DC/C8 and glutaric acid. Twenty cases of fetuses were identified as non-GA-Ⅰchildren, of whom in 2 cases of proband only one mutation was detected, and also in amniotic fluid cells one mutation was detected, in 2 cases the diagnosis was excluded because the normal levels of C5DC, C5DC/C8 and glutaric acid. There were 2 cases whose levels of C5DC or glutaric acid were slightly higher than the upper limit of the reference, but the diagnosis was excluded according to genetic testing

  16. Prenatal Diagnosis of Uhl Anomaly with Autopsy Correlation

    PubMed Central

    Philip, Saji; Bharati, Sarasa; Cherian, Kottureth Mammen; Bharati, Saroja

    2015-01-01

    Uhl anomaly is a rare form of congenital hypoplasia of the right ventricular myocardium. Here, we report, a rare finding in fetal cardiac ultrasound in a 33-year-old woman who presented at 20 weeks' of gestation. A diagnosis of Uhl anomaly was made. An autopsy was performed at 23weeks gestation after obtaining permission for medicolegal termination of pregnancy. Histopathological examination confirmed the diagnosis. Diagnosing Uhl anomaly in fetal life is essential since mortality and survival mainly depend on the severity of right ventricle dysfunction related to, the either partial or complete absence of the myocardium. Hence, surviving cases need to be followed up carefully and counselled accordingly. PMID:26929879

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2016-04-01

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

  19. 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.

  20. Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia

    PubMed Central

    Muro, S; Perez-Cerda, C; Rodriguez-Pombo, P; Perez, B; Briones, P; Ribes, A; Ugarte, M

    1999-01-01

    Propionic acidaemia (PA) is an autosomal recessive disease caused by a genetic deficiency of propionyl-CoA carboxylase (PCC). Defects in the PCCA and PCCB genes that code for the α and β subunits of PCC, respectively, are responsible for PA. A proband with PA was previously shown to carry the c1170insT mutation and the private L519P mutation in the PCCB gene. Here we report the prenatal diagnosis of an affected fetus based on DNA analysis in chorionic villus tissue. We have also assessed the carrier status in this PCCB deficient family, which was not possible with biochemical analysis.


Keywords: DNA; prenatal diagnosis; propionic acidaemia; PCCB PMID:10353789

  1. Evaluating the culture of fetal erythroblasts from maternal blood for non-invasive prenatal diagnosis.

    PubMed

    Chen, H; Griffin, D K; Jestice, K; Hackett, G; Cooper, J; Ferguson-Smith, M A

    1998-09-01

    Fetal erythroblasts circulating in maternal blood are important candidate cells for non-invasive prenatal diagnosis. We have cultured erythroblasts from 16 maternal blood samples, both with and without prior enrichment by magnetic activated cell sorting (MACS), in a semi-solid medium containing growth factors. Individual colonies were examined by PCR with sex chromosome-specific primers and microsatellite marker primers. No conclusive Y-chromosome specific amplification could be demonstrated in any of the 16 cases, even when the mother was confirmed to be carrying a male fetus. All colonies tested by microsatellite marker PCR were of maternal origin. Our results suggest that the probability of obtaining fetal colonies from fetal erythroblasts circulating in maternal blood is very low and that approaches for culturing fetal erythroblasts in vitro cannot yet be used reliably for prenatal diagnosis using current methods for fetal cell enrichment.

  2. [Prenatal diagnosis at 25 weeks gestation and neonatal management of a vallecular cyst].

    PubMed

    Cuillier, F; Testud, R; Samperiz, S; Fossati, P

    2002-11-01

    Due to the anatomical location, vallecular cyst is a rare but well-recognized cause of upper airway obstruction and death in newborn. This cyst can be accurately diagnosed by echography in utero and by MR imaging. Prenatal diagnosis allows for early consultation with surgical specialist, so that the time and place of the delivery can be addressed for neonatal preoperative planning. We report the first prenatal diagnosis of a vallecular cyst at 25 weeks of gestation. At birth, the cyst was drained and then marsupialized. We believed that, in cases of oropharyngeal tumors discovered in utero, elective delivery should be realised in a tertiary referral center in which emergency ventilation and tracheostomy are possible.

  3. Prenatal diagnosis and the transformation of the epistemic space of human heredity.

    PubMed

    Löwy, Ilana

    2013-01-01

    The introduction of new techniques of prenatal diagnosis in the 1960s transformed already back then, and continues to transform, the epistemic space of human heredity. These techniques - like karyotyping, amniocentesis, obstetrical ultrasound, and, more recently, analysis of free foetal DNA in maternal blood - modify the way in which people influence the transmission of traits to their offspring and thus have the potential to define what a "normal," "acceptable," or "valuable" human being is.

  4. [References for prenatal diagnosis of morphological defects including the central nervous system].

    PubMed

    Blohmer, J U; Caemmerer, C D; Bollmann, R; Bartho, S

    1993-02-01

    Clinical and autopsy records of 209 stillborn and 81 miscarried infants with 484 congenital defects of the central nervous system were analysed. Sets of more than one defect were retrospectively classified by pathogenetic criteria as syndrome, sequence, association and midline defects. Pathogenetic thinking makes the prenatal diagnosis of further defects easier if one has already been diagnosed. Statements regarding the most probable localisation of neural tube defects have been made.

  5. In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia.

    PubMed Central

    Rumsby, G; Honour, J W

    1990-01-01

    A simple, rapid, non-radioactive method for detecting homozygous deletions/conversions of the steroid 21-hydroxylase gene is described. In our experience this method will be useful for first trimester prenatal diagnosis of congenital adrenal hyperplasia in 17% of families of a child with the salt losing form. This test includes an internal control to monitor the success of amplification. Images PMID:2277381

  6. Prenatal diagnosis of pure partial monosomy 18p associated with holoprosencephaly and congenital heart defects.

    PubMed

    Yi, Zhou; Yingjun, Xie; Yongzhen, Chen; Liangying, Zhong; Meijiao, Shang; Baojiang, Chen

    2014-01-10

    We applied CMA to detect chromosomal variations during a prenatal diagnosis and detected a 4.5Mb pure microdeletion at 18p11.3 that was not detected by conventional karyotyping. Fluorescent in situ hybridization (FISH) analysis was performed to confirm the deletion. Accurate breakpoints of the deletion in this patient were used to build correlations between monosomy 18p and the concomitant phenotypes, particularly holoprosencephaly (HPE), which is rarely reported in monosomy 18p11.3.

  7. Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India.

    PubMed

    Tamhankar, Parag M; Agarwal, Sarita; Arya, Vandana; Kumar, Ravindra; Gupta, U R; Agarwal, S S

    2009-01-01

    To determine the feasibility and acceptability of premarital screening for beta thalassemia/related hemoglobinopathies followed by prenatal diagnosis in India. Premarital testing for thalassemia carrier state was carried out in (1) extended family members (EFM) of diagnosed cases of thalassemia/hemoglobinopathies, (2) unmarried adult cases of anemia attending the hospitals' outpatient department (OPD) and (3) adult college students (CG). Hemoglobin, red cell indices were measured by a cell counter and hemoglobin fractionation was carried out by high performance liquid chromatography (HPLC). In cases with HbA2>3.5%, or with variant hemoglobin, mutation screen was done by amplification refractory mutation system polymerase chain reaction (ARMS-PCR). In high-risk prospective couples, premarital genetic counseling was done and prenatal diagnosis possibilities were explained. The yield of carriers from EFM, OPD and CG groups was 78.17% (308/394), 19.51% (263/1348) and 4.04% (38/939), respectively. The number of prospective high-risk couples detected were 154, 48 and 2 from EFM, OPD and CG, respectively. As much as 99% of prospective carrier couples married even after knowing their high-risk status and opted for prenatal diagnosis. The program averted the birth of 33 thalassemic children; 28 in EFM group (by screening of 394 individuals), 4 in the OPD group (by screening 1348 anemic patients), and 1 in CG group (by screening of 939 students). Premarital screening in extended family members, followed by prenatal diagnosis is acceptable and the most effective strategy for control of thalassemia in developing countries like India. Copyright (c) 2008 John Wiley & Sons, Ltd.

  8. Mosaic small supernumerary marker chromosome 1 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review.

    PubMed

    Chen, Chih-Ping; Chen, Ming; Su, Yi-Ning; Huang, Jian-Pei; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chang, Shun-Ping; Chen, Yu-Ting; Lee, Chen-Chi; Chen, Li-Feng; Pan, Chen-Wen; Wang, Wayseen

    2013-10-15

    We present prenatal diagnosis and molecular cytogenetic analysis of mosaic small supernumerary marker chromosome 1 [sSMC(1)]. We review the literature of sSMC(1) at amniocentesis and chromosome 1p21.1-p12 duplication syndrome. We discuss the genotype-phenotype correlation of the involved genes of ALX3, RBM15, NTNG1, SLC25A24, GPSM2, TBX15 and NOTCH2 in this case.

  9. 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

  10. Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling.

    PubMed

    Chen, Chih-Ping; Su, Yi-Ning; Hsu, Chin-Yuan; Chern, Schu-Rern; Tsai, Fuu-Jen; Wu, Pei-Chen; Chen, Po-Tsang; Wang, Wayseen

    2010-12-01

    To present the perinatal findings and molecular genetic analysis of two siblings with Ellis-van Creveld (EvC) syndrome. A 33-year-old woman, gravida 3, para 1, was referred for genetic counseling at 18 gestational weeks because of recurrent fetal skeletal dysplasia. Two years previously, she had delivered a 1,316-g dead male baby at 28 gestational weeks with a karyotype of 46,XY, postaxial polydactyly of the hands, thoracic narrowness, endocardial cushion defects, transposition of the great arteries, shortening of the long bones, malposition of the toes, and hypoplastic nails. During this pregnancy, prenatal ultrasound at 18 gestational weeks revealed shortening of the long bones (equivalent to 15 weeks), postaxial polydactyly of both hands, thoracic narrowness, and endocardial cushion defects. The pregnancy was subsequently terminated, and a 236-g female fetus was delivered with a karyotype of 46,XX, postaxial polydactyly of the hands, thoracic dysplasia, endocardial cushion defects, shortening of the long bones, and malposition of the toes and hypoplastic nails. The phenotype of each of the two siblings was consistent with EVC syndrome. Molecular analysis of the EVC and EVC2 genes revealed heterozygous mutations in the EVC2 gene. A heterozygous deletion mutation of a 26-bp deletion of c.871-2_894del26 encompassing the junction between intron 7 and exon 8 of the EVC2 gene was found in the mother and two siblings, and a heterozygous nonsense mutation of c.1195C >T, p.R399X in exon 10 of the EVC2 gene was found in the father and two siblings. Prenatal sonographic identification of endocardial cushion defects in association with shortening of the long bones should alert clinicians to the possibility of EvC syndrome and prompt a careful search of hexadactyly of the hands. Molecular analysis of the EVC and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects

  11. 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

  12. [Prenatal diagnosis of Thailand deletion of α-thalassemia 1 families].

    PubMed

    Lin, N; Lin, Y; Huang, H L; Lin, X L; He, D Q; He, S Q; Guo, D H; Li, Y; Xu, L P

    2016-06-28

    To conduct analysis and prenatal diagnosis on 11 couples carrying Thailand deletion (--(THΑI)) α-thalassemia 1, so as to provide information for clinical genetic counseling on α-thalassemia 1. Altogether 11 Thailand deletion (--(THΑI)) α-thalassemia 1 families were collected from Fujian Maternal and Children Health Hospital from May 2009 to September 2015. Gap-polymerase chain reaction (gap-PCR) and reverse dot blot (RDB) technology were used to detect the thalassemia mutations in the couples and fetuses. In one family, Thailand deletion α-thalassemia 1 was detected in both the pregnant woman and her husband. In 10 families, Thailand deletion α-thalassemia 1 was detected in either the pregnant women or the husband, while the spouses had α-thalassemia heterozygote (1 combined with β thalassemia heterozygote). Thailand deletion α-thalassemia 1 family members all had lower mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH). In prenatal diagnosis of the 12 fetuses, 4 fetuses were found with hemoglobin(Hb) Bart's hydrops fetalis syndrome, 5 were with α-thalassemia heterozygote, and 3 were normal. For couples with positive hematological phenotype but normal results in routine genetic examination of α-thalassemia, attention should be paid especially for with a history of having babies of hydrops fetalis syndrome or hemoglobin H disease. It is necessary to consider the possibility of the rare Thailand deletion (--(THΑI)) α-thalassemia 1. Prenatal diagnosis for high-risk families plays an important role.

  13. Clinical value of color doppler ultrasound in prenatal diagnosis of umbilical cord entry abnormity

    PubMed Central

    Sun, Jiandong; Wang, Li; Li, Yinghui

    2016-01-01

    Objective: To study the clinical value of prenatal diagnosis of umbilical cord entry abnormity (UCEA) by means of color Doppler ultrasound (CDUS). Methods: Clinical data of sixty-four cases with confirmed umbilical cord entry abnormity were reviewed and the specific UCEA conditions and the outcomes of perinatal infants were analyzed. Results: Detection rates of marginal umbilical cord entry abnormity and velamentous umbilical cord entry abnormity by means of CDUS at second trimester were 94.1% and 93.8% respecdtively much higher than 80.0% and 68.8% which were those of third trimester. Discrepancy had statistical significance (P<0.05). True positive rate of prenatal diagnosis of UCEA by means of CDUS was 85.9% (55/64), and false negative rate was 14.1% (9/64). Among sixty four patients with UCEA, seventeen patients (26.6%) underwent selective caesarean delivery; twenty-six patients (35.9%) underwent emergency caesarean delivery and twenty-four patients (37.5%) had normal delivery. Conclusion: Prenatal diagnosis of UCEA by means of CDUS is intuitive and accurate. It provides an evidence for determination of the best time to diagnose UCEA, and also offers a proper advice for pregnant women about delivery mode to ensure the fetus survival rate, which is clinically valuable. PMID:28083036

  14. [The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family].

    PubMed

    Yan, Yousheng; Hao, Shengju; Yao, Fengxia; Sun, Qingmei; Zheng, Lei; Zhang, Qinghua; Zhang, Chuan; Yang, Tao; Huang, Shangzhi

    2014-12-01

    To characterize the mutation spectrum of phenylalanine hydroxylase (PAH) gene and perform prenatal diagnosis for families with classical phenylketonuria. By stratified sequencing, mutations were detected in the exons and flaking introns of PAH gene of 44 families with classical phenylketonuria. 47 fetuses were diagnosed by combined sequencing with linkage analysis of three common short tandem repeats (STR) (PAH-STR, PAH-26 and PAH-32) in the PAH gene. Thirty-one types of mutations were identified. A total of 84 mutations were identified in 88 alleles (95.45%), in which the most common mutation have been R243Q (21.59%), EX6-96A>G (6.82%), IVS4-1G>A (5.86%) and IVS7+2T>A (5.86%). Most mutations were found in exons 3, 5, 6, 7, 11 and 12. The polymorphism information content (PIC) of these three STR markers was 0.71 (PAH-STR), 0.48 (PAH-26) and 0.40 (PAH-32), respectively. Prenatal diagnosis was performed successfully with the combined method in 47 fetuses of 44 classical phenylketonuria families. Among them, 11 (23.4%) were diagnosed as affected, 24 (51.1%) as carriers, and 12 (25.5%) as unaffected. Prenatal diagnosis can be achieved efficiently and accurately by stratified sequencing of PAH gene and linkage analysis of STR for classical phenylketonuria families.

  15. [Early prenatal diagnosis for a family affected with X-linked spondyloepiphyseal dysplasia tarda family].

    PubMed

    Gao, Chao; Wang, Huaili; Kong, Xiangdong; Shang, Qing; Duan, Jiali; Luo, Qiang

    2014-04-01

    X-linked spondyloepiphyseal dysplasia tarda (SEDL) is a rare osteochondrodysplasia caused by mutations of SEDL gene, which usually onset in late childhood without systemic complications. In this study, we have provided prenatal diagnosis for an affected family with a combined strategy including direct sequencing, fetal-sex identification and microsatellite linkage analysis. Two amniotic fluid samples from carrier gravida and 7 blood samples from individuals in this SEDL pedigree were obtained. Genomic DNA was extracted from the samples using standard phenol-chloroform method. SRY and AMEL genes were employed to assess fetal sex. Microsatellite DXS16 was genotyped for linkage analysis. A pathogenic mutation of the SEDL gene was identified by bi-directionally direct sequencing of the third exon as well as its exon/intron boundaries. Two male fetuses were confirmed by fetal-sex assessment. The mutation of the SEDL gene was identified as a nucleotide substitution of the splice acceptor site in intron 2, IVS2-2A>C. DNA sequencing indicated that one fetus is hemizygote carrying the mutation, whilst another is not a carrier. Linkage analysis was identical with the sequencing results. Follow-up also confirmed the result of prenatal diagnosis. Fetal-sex assessment combined with microsatellite linkage analysis and bi-directionally direct sequencing is a more accurate and ready strategy for prenatal diagnosis of families affected with SEDL.

  16. Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).

    PubMed

    Loeys, B; Nuytinck, L; Van Acker, P; Walraedt, S; Bonduelle, M; Sermon, K; Hamel, B; Sanchez, A; Messiaen, L; De Paepe, A

    2002-01-01

    Marfan syndrome (MFS) is an autosomal dominant disorder with a prevalence of 2-3 per 10 000 individuals. Symptoms range from skeletal overgrowth, cutaneous striae to ectopia lentis and aortic dilatation leading to dissection. Prenatal diagnosis was until recently mainly performed in familial cases by linkage analysis. However, mutation detection has become available with thorough screening methods. The phenotypic variability observed in MFS makes reproductive options difficult, as molecular diagnosis cannot predict clinical severity of the disease. Data are presented on 15 prenatal and/or preimplantation genetic diagnoses (PGD) in nine families, originating from Belgium, the Netherlands, Spain and France. In four families data from linkage analysis were used, whereas in five other families the causative FBN1 mutation was characterised. Four PGD cycles in two couples led to one ongoing pregnancy. In addition, two amniocenteses and nine chorionic villus (CV) samplings were performed. In five pregnancies an affected fetus was diagnosed. In one of them, the couple chose to continue the pregnancy and an affected child was born, whereas the other four couples decided to terminate the pregnancy. It is expected that the greater availability of mutation testing of the FBN1 gene will increase requests for prenatal diagnosis. PGD appears to be an acceptable alternative for couples facing ethical reproductive dilemmas. Copyright 2002 John Wiley & Sons, Ltd.

  17. 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.

  18. Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report.

    PubMed

    Benaicha, A; Dommergues, M; Jouannic, J M; Jacquette, A; Alexandre, M; Le Merrer, M; Ducou Le Pointe, H; Garel, C

    2009-12-01

    Brachytelephalangic chondrodysplasia punctata is a rare congenital skeletal dysplasia. Within the heterogeneous group of chondrodysplasia punctata, the brachytelephalangic type is noteworthy because it has a better prognosis than do the other types. We report a case of brachytelephalangic chondrodysplasia punctata diagnosed by ultrasound imaging at 30 weeks' gestation; it was associated with polyhydramnios and a normal cervical spinal canal. Imaging features are described and differential diagnosis with other forms of chondrodysplasia punctata is discussed. Copyright 2009 ISUOG. Published by John Wiley & Sons, Ltd.

  19. Prenatal diagnosis of frontonasal dysplasia with anterior encephalocele

    PubMed Central

    Esmer, Aytul Çorbacıoğlu; Kalelioğlu, İbrahim; Kayserili, Hülya; Yüksel, Atıl; Has, Recep

    2013-01-01

    Frontonasal dysplasia is a rare congenital anomaly affecting the eyes, nose and forehead, and occurs sporadically in most of the cases. A 24-year-old woman was referred to our unit at 27 weeks gestation due to the preliminary diagnosis of encephalocele. The sagittal and axial sonography of the fetal face depicted a midline mass measuring 3.8 × 4.2 cm, projecting anteriorly between the fetal orbits and extending from the the upper aspects of the forehead to the nasal bridge, which was consistent with the frontal (anterior) encephalocele. There were prominent hypertelorism and two facial clefts, and the nostrils were extremely separated. Following genetic counseling, the couple requested termination of pregnancy. Fetal pathologic examination confirmed the diagnosis of frontonasal dysplasia and anterior encephalocele with no additional major malformation. The fetal karyotype was normal and no mutation in the ALX1 gene was found, excluding ALX1-related frontonasal dysplasia in the differential diagnosis. Fetuses with neural tube defect may suffer from associated syndromes and disorders, as with our case. The presence of frontonasal dyplasia should be considered when an anterior encephalocele is detected by ultrasonography. PMID:24592072

  20. Non-invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective study.

    PubMed

    Sotiriadis, Alexandros; Papoulidis, Ioannis; Siomou, Elisavet; Papageorgiou, Elena; Eleftheriades, Makarios; Papadopoulos, Vasilios; Alexiou, Maria; Manolakos, Emmanouil; Athanasiadis, Apostolos

    2017-06-01

    To calculate the proportion of array comparative genomic hybridization (aCGH) pathogenic results, that would not be detectable by non-invasive prenatal screening (NIPS). This is a comparative study using data from 2779 fetuses, which underwent invasive prenatal diagnosis, and the samples were analyzed using aCGH. The simulated NIPS assay would test for trisomies 21, 18, 13, monosomy X, 47, XXX, 47, XYY, and 47, XXY. Indications for invasive testing were grouped into categories and the absolute, relative rates of pathogenic/likely pathogenic results of aCGH analysis that would not be detectable by NIPS were calculated. The expected rate of aCGH-detected abnormalities that would not be detectable by NIPS was 28.0% (95% CI 14.3-47.6) for nuchal translucency (NT) 95 to 99th centile; 14.3% (95% 5.0-34.6) for NT > 99th centile; 34.2% (95% CI 21.1-50.1) for high-risk first-trimester results (regardless of NT); 52.4% (95% CI 32.4-71.7) for second-trimester markers; and 50.0% (95% CI 26.8-73.2) for advanced maternal age. The overall rate of aCGH pathogenic/likely pathogenic results was 5.0% and 44.0% (95% CI 36.0-52.2) of them would not be detected by NIPS. Approximately half of the abnormal aCGH results would not be detectable by standard NIPS assays, highlighting the necessity of pre-test counseling, and illustrating the limitations of NIPS. © 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

  1. [Eugenics' extension in the Spanish health care system through the prenatal diagnosis].

    PubMed

    Rodríguez Martín, Esteban

    2012-01-01

    The wide implantation of strategies of sifted or prenatal selection close to laws that protect the destruction of the human life before the childbirth in the whole world, they are giving place to an increasing number of eugenic abortions. In Spain, the law 2/2010 of the sexual and reproductive health and voluntary interruption of pregnancy there has supposed the liberalization of the eugenic abortion without term limit. In we make concrete, the sanitary national and international policies of prenatal selection of Down's Syndrome, which they chase to facilitate the total or partial destruction before the childbirth of this human group, submitting it to a few particular conditions of existence during his prenatal life in those who will be an object of a series of technologies of selection, they might be qualified of genocidal policies if we consider the definition of genocide given by United Nations. In consequence, the sanitary agent who takes part without objection in the above mentioned programs promoted by the principal agents, meets turned into a necessary cooperator of the abortion who justifies itself in the supposition of "foetal risk". We can conclude that we are present at an eugenic drift of the prenatal diagnosis that is opposite to the ethical beginning of the medical profession.

  2. The contribution of prenatal diagnosis to the understanding of malformative intracranial cysts: state of the art.

    PubMed

    Pierre-Kahn, A; Hanlo, P; Sonigo, P; Parisot, D; McConnell, R S

    2000-11-01

    This review evaluates the contribution of prenatal diagnosis to the understanding of intracranial cysts. We describe the outcome of 54 fetuses in which prenatal investigations indicated the presence of such lesions. The cysts were diagnosed between 20 and 30 weeks of gestation. Most (63%) were supratentorial and interhemispheric. There was only a single sylvian cyst. In the infratentorial compartment, median retrocerebellar cysts were predominant. Incisural cysts accounted for 14.8% of the series. Nine pregnancies were interrupted because of the presence of associated brain disorders. Forty-five children are alive. Thirty-four had neuropsychological tests. Cysts rarely progressed, most frequently stabilized and often regressed postnatally. Hydrocephalus was rare. In two cases delivery was precipitated at 36 weeks to allow urgent treatment of rapidly evolving cysts. Thirteen children (28.2%) were treated postnatally, in general for developing cysts. The median follow-up for the whole series exceeds 4 years. Behavior, neurological development, and intelligence are normal in 88% of the cases, and 91% have a normal neurological status. Prognosis at the time of the prenatal consultation was correct in 89% of the cases. We emphasize the value of prenatal magnetic resonance imaging and karyotype studies to limit risks of incorrect prognosis.

  3. 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.

  4. Prenatal diagnosis of polymorphic ventricular tachycardia using 64-channel magnetocardiography.

    PubMed

    Fukushima, Akimune; Nakai, Kenji; Matsumoto, Atsushi; Strasburger, Janette; Sugiyama, Toru

    2010-05-01

    We describe polymorphic ventricular tachycardia (VT) diagnosed using fetal magnetocardiography (FMCG). The fetus of a 33-year-old Japanese female at 24 weeks of pregnancy was diagnosed as bradycardia (60 beats/min) by fetal cardiotocography (CTG). Ultrasound findings indicated a diagnosis of an atrioventricular (AV) block involving extrasystole, but FMCG revealed a polymorphic VT followed by ventricular asystole. Standard ECG immediately after cesarean section at 37 weeks of pregnancy confirmed long QT syndrome followed by nonsustained polymorphic VT and an advanced AV block with wide QRS. Echocardiography demonstrated moderate left ventricular dysfunction in the neonate requiring implantation with a permanent pacemaker.

  5. Molecular prenatal diagnosis in 2 pregnancies at risk for spondyloepiphyseal dysplasia congenita.

    PubMed

    Xia, Xin-Yi; Cui, Ying-Xia; Huang, Yu-Feng; Pan, Lian-Jun; Feng, Yao; Yang, Bin; Li, Xiao-Jun; Zhu, Pei-Yuan; Shi, Yi-Chao; Liang, Quan

    2008-01-01

    Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant skeletal dysplasia characterized by short stature, abnormal epiphyses, and flattened vertebral bodies. Secondary prevention of SEDC can be achieved by prenatal diagnosis. Reports of antenatally-diagnosed SEDC fetuses have been very rare and molecular prenatal diagnosis even rarer. We previously reported a familial G504S mutation in the type II collagen (COL2A1) gene resulting in SEDC. In this study, molecular prenatal diagnosis was performed to 2 couples in this family with pregnancies at risk for SEDC. Amniotic fluid was sampled by amniocentesis under ultrasound guidance at 19+3 and 18+6 weeks' gestation, respectively. Karyotype and molecular genetic analysis were performed on cultured amniotic fluid cells. Maternal cell contamination was excluded by short tandem repeat (STR) analysis. Direct DNA sequencing and DHPLC were conducted to detect the potential mutation in exon 23 of COL2A1 gene. Both women underwent serial sonograms because they insisted that the molecular diagnosis should be confirmed by another method, although they had been informed that mutation analysis is predictive of the disease. Karyotype of both fetuses was normal and molecular genetic analysis revealed that fetus 1 carried a G504S mutation in exon 23, while fetus 2 was normal. In case 1, femur length of the fetus was markedly below the 5th centile at 23 weeks' gestation, which confirms the accuracy of molecular diagnosis. A medical termination was carried out at 27+5 weeks' gestation and a male fetus with a relatively large head and short limbs was delivered. The fetal radiograph demonstrated a number of features, including generalised platyspondyly, absent ossification of the vertebral bodies in the cervical region and significant shortening of the long bones. The diagnosis of SEDC was thus confirmed clinically. Ultrasound monitoring of fetus 2 showed that its femur length was normal for gestational age at repeated scans

  6. [Prenatal molecular diagnosis of a DMD carrier female fetus by chorionic villus sampling and linkage analysis].

    PubMed

    Alcántara Ortigoza, Miguel Angel; Aguinaga Ríos, Mónica; González del Angel, Ariadna; Zavaleta Abreu, Maria de Jesús; Acevedo Gallegos, Sandra; Mayén Molina, Dora Gilda; del Castillo Ruíz, Victoria

    2009-02-01

    Duchenne muscular dystrophy (DMD) is the most frequent inherited and lethal neuromuscular disorder in humans. Molecular prenatal diagnosis of DMD through amniocentesis is a real preventive reproductive option in our country, although experience with chorionic villus sampling is still limited (CVS). Perform the first prenatal diagnosis in an obligate DMD carrier woman in Mexico by CVS. CVS was performed in an obligate DMD carrier woman in which no partial intragenic deletions were present but a haplotype at-risk was identified. Cytogenetic analysis with GTG banding was performed and genomic DNA extraction from CVS sample was done without culture. Fetal gender assignment was achieved by ultrasonography at 12 weeks of gestation and confirmed by PCR amplification of two Y chromosome-linked loci (SRY and DYS389I/II). Identification of the DMD haplotype at-risk in the fetus was done through analysis of the intragenic markers pERT87.8/TaqI and pERT87.15/Xmnl. Absence of PCR products corresponding to Y chromosome-linked loci in DNA CVS sample was compatible with a female fetus; it was confirmed later by cytogenetic study and prenatal ultrasound follow-up. Linkage analysis reveals that the female fetus inherited the DMD haplotype at-risk. We did not identify any maternal DNA contamination in CVS molecular analysis and these results were postnatally confirmed in DNA obtained from buccal cells. Molecular prenatal diagnosis through chorionic villus sampling could be an early reproductive prevention strategy applicable to Duchenne/Becker muscular dystrophy carrier women in our country.

  7. Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals.

    PubMed

    Kanavakis, E; Efthymiadou, A; Strofalis, S; Doudounakis, S; Traeger-Synodinos, J; Tzetis, M

    2003-05-01

    Cystic fibrosis (CF) mutation analysis on 437 CF patients, characterized 80 different mutations (20 so far specific to our population) accounting for 91% of CF genes and generating 103 different genotypes. Eight mutations were common [F508del (53.4%), 621+1G>T (5.7%), G542X (3.9%), N1303K (2.6%), 2789+5G>A (1.7%), 2183AA>G (1.4%), E822X (1.4%), R1158X (1%)], 12 showed frequencies between 0.5% and 1%, while the remaining (60) were very rare (1 to 3 alleles). Denaturing gradient gel electrophoresis (DGGE) screening of 12 exons (3, 4, 7, 10, 11, 13, 14b, 16, 17b 20 and 21) detected 85.5% of CF alleles. Haplotypes for eight diallelic and three microsatellite markers have been characterized for the common, a few rare and novel Greek mutations. Results of 165 prenatal diagnoses (including 49 due to bowel hyperechogenicity), testing a total of 41 different parental genotypes, are reported. One hundred and sixteen prenatal tests resulted in 22 affected, 59 heterozygous, 34 normal fetuses and one incomplete diagnosis. Of the 49 echogenic bowel fetuses, 3 were heterozygotes. Carrier screening was initiated, with emphasis on individuals and couples in high-risk groups - with a family history of CF, one partner with CF, and couples with male infertility seeking in vitro fertilization (IVF). Mutation analysis on 672 individuals (120 couples, 91 unaffected CF siblings, 283 CF family relatives and 58 general population subjects), identified a total of 176 heterozygotes and 7 couples where both partners were CF heterozygotes. Prenatal diagnosis was performed in 4 cases and 3 were counseled on the availability of a prenatal test.

  8. Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

    PubMed

    Nahar, Risha; Puri, Ratna D; Saxena, Renu; Verma, Ishwar C

    2013-01-01

    Surveys of attitudes of individuals with deafness and their families towards genetic testing or prenatal diagnosis have mostly been carried out in the West. It is expected that the perceptions and attitudes would vary amongst persons of different cultures and economic background. There is little information on the prevailing attitudes for genetic testing and prenatal diagnosis for deafness in developing countries. Therefore, this study evaluates the motivations of Indian people with inherited hearing loss towards such testing. Twenty-eight families with history of congenital hearing loss (23 hearing parents with child/family member with deafness, 4 couples with both partners having deafness and 1 parent and child with deafness) participated in a semi-structured survey investigating their interest, attitudes, and intentions for using genetic and prenatal testing for deafness. Participants opinioned that proper management and care of individuals with deafness were handicapped by limited rehabilitation facilities with significant financial and social burden. Nineteen (68%) opted for genetic testing. Twenty-six (93%) expressed high interest in prenatal diagnosis, while 19 (73%) would consider termination of an affected fetus. Three hearing couples, in whom the causative mutations were identified, opted for prenatal diagnosis. On testing, all the three fetuses were affected and the hearing parents elected to terminate the pregnancies. This study provides an insight into the contrasting perceptions towards hearing disability in India and its influence on the desirability of genetic testing and prenatal diagnosis.

  9. Can we perform a prenatal diagnosis of vasa previa to improve its obstetrical and neonatal outcomes?

    PubMed

    Nohuz, E; Boulay, E; Gallot, D; Lemery, D; Vendittelli, F

    2017-04-01

    Vasa previa (VP) is defined as a condition in which the fetal blood vessels, unsupported by the placenta or the umbilical cord, run through the membranes of the lower uterine segment. It is associated with a high risk of stillbirth by exsanguination. This study aimed to assess the clinical context of diagnosis of VP in order to elaborate a strategy for its prenatal diagnosis and to improve its obstetrical and neonatal outcomes. This historical cohort study covered the period from January 1, 2011 to December 31, 2015. All women who gave birth at our obstetrics and gynecology department (level 3 university hospital) and who had a VP were included. Eight cases of VP among 18,152 deliveries were observed (0.04%). Transvaginal sonography (TVS) with color Doppler allowed a prenatal diagnosis of VP in all cases. The mean gestational age at diagnosis was 26 weeks. Placental abnormalities were noted in 7 cases (87.5%) as bipartita or low-lying placenta. In one case (12.5%), the placenta appeared normal while umbilical cord insertion was velamentous. In 2 cases (25%), concomitant placental and cord abnormalities were objectified. The mean gestational age at delivery was 37±2.1 weeks. Seven deliveries (87.5%) had been by caesarean sections, except one, which occurred by vaginal route at 33 weeks of gestation (twin pregnancy). No case of perinatal death was observed. Prenatal diagnosis of VP during screening ultrasounds appears easy to perform and can improve obstetrical and neonatal outcomes. For this purpose, TVS with color and pulsed Doppler remains essential, particularly when an anomaly of the umbilical cord insertion and/or placental location is diagnosed. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  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. Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants.

    PubMed

    Hu, Xuyun; Li, Hongdou; Gui, Baoheng; Xu, Yufei; Wang, Jin; Li, Niu; Su, Jiasun; Zhang, Shujie; Song, Yanning; Wang, Yi; Luo, Jingsi; Fan, Xin; Wang, Jian; Chen, Shaoke; Gong, Chunxiu; Shen, Yiping

    2017-09-29

    3-M syndrome is a clinically recognizable yet under-diagnosed primordial growth retardation disorder. Molecular testing for CUL7, OBSL1 or CCDC8 genes can provide confirmed diagnosis for patients at prenatal or early age. So far, the clinical and molecular features of Chinese 3-M syndrome patients have not been reported. In this article, the authors performed prenatal and early diagnosis of Chinese patients with 3-M syndrome by Next-Generation Sequencing. The authors reported six unrelated Chinese 3-M syndrome patients. Five of the six patients were diagnosed before two years of age including one prenatal case. The authors identified six novel pathogenic variants and five previously reported pathogenic variants. The authors' clinical evaluations indicated that Chinese 3-M syndrome patients share similar recognizable features as those reported in patients of other ethnic background. The authors noticed some uncommon features in this small cohort of Chinese patients such as delayed motor development at early ages, undelayed bone age and presence of lower eyelid fat pads. The authors' study of Chinese 3-M syndrome patients revealed novel mutations and clinical phenotypes. Copyright © 2017. Published by Elsevier B.V.

  12. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing.

    PubMed

    Chen, Eric Z; Chiu, Rossa W K; Sun, Hao; Akolekar, Ranjit; Chan, K C Allen; Leung, Tak Y; Jiang, Peiyong; Zheng, Yama W L; Lun, Fiona M F; Chan, Lisa Y S; Jin, Yongjie; Go, Attie T J I; Lau, Elizabeth T; To, William W K; Leung, Wing C; Tang, Rebecca Y K; Au-Yeung, Sidney K C; Lam, Helena; Kung, Yu Y; Zhang, Xiuqing; van Vugt, John M G; Minekawa, Ryoko; Tang, Mary H Y; Wang, Jun; Oudejans, Cees B M; Lau, Tze K; Nicolaides, Kypros H; Lo, Y M Dennis

    2011-01-01

    Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due to the lack of data from a large sample set. We studied 392 pregnancies, among which 25 involved a trisomy 13 fetus and 37 involved a trisomy 18 fetus, by massively parallel sequencing. By using our previously reported standard z-score approach, we demonstrated that this approach could identify 36.0% and 73.0% of trisomy 13 and 18 at specificities of 92.4% and 97.2%, respectively. We aimed to improve the detection of trisomy 13 and 18 by using a non-repeat-masked reference human genome instead of a repeat-masked one to increase the number of aligned sequence reads for each sample. We then applied a bioinformatics approach to correct GC content bias in the sequencing data. With these measures, we detected all (25 out of 25) trisomy 13 fetuses at a specificity of 98.9% (261 out of 264 non-trisomy 13 cases), and 91.9% (34 out of 37) of the trisomy 18 fetuses at 98.0% specificity (247 out of 252 non-trisomy 18 cases). These data indicate that with appropriate bioinformatics analysis, noninvasive prenatal diagnosis of trisomy 13 and trisomy 18 by maternal plasma DNA sequencing is achievable.

  13. Non-invasive prenatal diagnosis using cell-free fetal DNA technology: applications and implications.

    PubMed

    Hall, Alison; Bostanci, A; Wright, C F

    2010-01-01

    Cell-free fetal DNA and RNA circulating in maternal blood can be used for the early non-invasive prenatal diagnosis (NIPD) of an increasing number of genetic conditions, both for pregnancy management and to aid reproductive decision-making. Here we present a brief review of the scientific and clinical status of the technology, and an overview of key ethical, legal and social issues raised by the analysis of cell-free fetal DNA for NIPD. We suggest that the less invasive nature of the technology brings some distinctive issues into focus, such as the possibility of broader uptake of prenatal diagnosis and access to the technology directly by the consumer via the internet, which have not been emphasised in previous work in this area. We also revisit significant issues that are familiar from previous debates about prenatal testing. Since the technology seems to transect existing distinctions between screening and diagnostic tests, there are important implications for the form and process involved in obtaining informed consent or choice. This analysis forms part of the work undertaken by a multidisciplinary group of experts which made recommendations about the implementation of this technology within the UK National Health Service. Copyright 2010 S. Karger AG, Basel.

  14. X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies.

    PubMed

    Cirigliano, Vincenzo; Ejarque, Maijo; Fuster, Carme; Adinolfi, Matteo

    2002-11-01

    During the past few years, rapid prenatal diagnosis of chromosome aneuploidies has been successfully achieved by quantitative fluorescent PCR (QF-PCR) amplification of chromosome-specific small tandem repeats (STR). This approach has proven to be very useful in clinical settings, since it allows the detection of major numerical disorders in a few hours after sampling. For the detection of Turner's syndrome (45,X), several highly polymorphic STR on the X chromosome are needed in order to reduce the likelihood that a normal female might be homozygous for all sequences and, consequently, that the test could fail to discriminate between samples retrieved from a Turner's and a normal female fetus. Here we report a new method for rapid and accurate detection of X chromosome copy number in prenatal samples that does not depend on STR heterozygosity. The test is based on QF-PCR amplification of the X-linked HPRT together with the autosomal D21S1411 used as internal control for quantification. In the course of this study, this assay allowed the prenatal diagnosis of a rare case of a normal female homozygous for four selected highly polymorphic X chromosome STR, as well as the assessment of the normal chromosome complement of a fetus homozygous for five chromosome 21 markers.

  15. 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.

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

    PubMed Central

    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

    2015-01-01

    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. PMID:25052315

  17. Correlation between fetal autopsy and prenatal diagnosis by ultrasound: A systematic review.

    PubMed

    Rossi, A Cristina; Prefumo, Federico

    2017-03-01

    The objective of this study was to review literature about the correlation between fetal autopsy and ultrasound findings of fetal malformations. Search in PubMed, Medline, EMBASE, Clinicl trials.org, reference list was performed. Inclusion criteria for studies selection were: fetal autopsy performed after termination of pregnancy (TOP) or stillbirth, TOP for fetal anomalies, prenatal diagnosis of malformations, data reported as proportional rates. case reports, non English language, data reported in graphs or percentage. From each article: sample size, type of malformation, indication for TOP, autopsy findings. Fetal anomalies were grouped in central nervous system (CNS), genitourinary (GU), congenital heart defects (CHD), gastrointestinal (GI), thorax, limbs, skeleton, genetics (TOP for abnormal karyotype), multiples (TOP for multiple severe malformations for which a single indication for TOP/stillbirth could not be identified). Correspondence between autopsy and ultrasound was defined as agreement (same diagnosis), additional (additional findings undetected by ultrasound), unconfirmed (false positive and false negative ultrasound). PRISMA guidelines were followed. From 19 articles, 3534 fetuses underwent autopsy, which confirmed prenatal ultrasound in 2401 (68.0%) fetuses, provided additional information in 794 (22.5%) fetuses, and unconfirmed prenatal ultrasound in 329 (9.2%) fetuses. The latter group consisted of 3.2% false positive and 2.8% false negative cases. The additional findings changed the final diagnosis in 3.8% of cases. The most frequent indication for TOP/stillbirth was CNS anomalies (36.3%), whereas thorax anomalies represented the less frequent indication (1.7%). The highest agreement between autopsy and prenatal ultrasound was observed in CNS (79.4%) and genetics (79.2%), followed by GU anomalies (76.6%), skeleton (76.6%), CHD (75.5%), thorax (69.7%); GI (62.6%), multiple (37.0%), limbs (23.3%). In spite of the high agreement between prenatal

  18. Prenatal diagnosis of heterokaryotypic mosaic twins discordant for fetal sex.

    PubMed

    Schmid, O; Trautmann, U; Ashour, H; Ulmer, R; Pfeiffer, R A; Beinder, E

    2000-12-01

    The presence of a monozygotic twin gestation with discordant sex of the twins is a very rare constellation, which is referred to as heterokaryotypic monozygotic pregnancy. This constellation can develop either due to a chromosomal aberration after twinning or is - as in the following case - due to a mitotic error before twinning and an unequal distribution of mosaicism in both embryos. So far the diagnosis of heterokaryotypic monozygotic pregnancy has always been made postnatally, with only one exception (Gonsoulin et al., 1990). In this case we suspected the presence of monozygotic twins ultrasonically because of the chorionic and amniotic membrane characteristics. Surprisingly the sex of the fetuses was discrepant. As one of them had hydrops and a structural heart defect, we carried out an amniocentesis, which revealed mosaicism [45,X/46,X,i(Y)(p10)] of both fetuses. The female fetus with a predominant 45,X set of chromosomes and the typical intrauterine signs of the Ullrich-Turner syndrome (massive hygroma colli, hydrops fetalis and multiple cardiac defects) died during the 25th week of gestation due to cardiac decompensation. The other fetus appeared to be male with a predominance of a 46,X,i(Y)(p10) set of chromosomes and was born a few days after the intrauterine death of the hydropic fetus. In conclusion, our observation shows that ultrasonic evidence of discordant fetal sex in twins does not necessarily exclude monozygosity. Copyright 2000 John Wiley & Sons, Ltd.

  19. Prenatal diagnosis of a de novo inversion of chromosome (2)(p21q11).

    PubMed

    Hengstschläger, M; Mittermayer, C; Prusa, A R; Drahonsky, R; Repa, C; Deutinger, J; Bernaschek, G

    2003-08-01

    Prenatal diagnosis of "apparently balanced" chromosomal rearrangements, if not inherited from a parent, are problematic for genetic counsellors and families. Although the parents need to be informed about the increased risk of multiple congenital anomalies, the anomalies that the fetus is at risk can not be discussed unless a similar breakpoint and accompanying phenotype have been reported in the literature. In the reported case prenatal ultrasound examination revealed a massive hydrocephalus internus and IUGR. The karyotype of the fetus was inv(2)(p21q11) de novo. Postmortem examination revealed short palpebral fissures, hypertelorism, atypical nasiolabial configuration, microgenia, extended position of the fingers, atypical proximal inserted first toe, hydrocephalus internus, hypoplasia of the cerebellum and bulbi olfactorii, bilateral hypoplastic lungs, atrial septal defect II, small right ventricle, dysplasia of the pulmonary valve, hypoplastic pulmonary artery, right proximal ureterostenosis, hypoplastic gall bladder. This is the first description of a de novo inversion (2)(p21q11) in a fetus with multiple malformations.

  20. Preparing Heart and Mind Following Prenatal Diagnosis of Complex Congenital Heart Defect

    PubMed Central

    McKechnie, Anne Chevalier; Pridham, Karen

    2013-01-01

    Drawing on attachment and caregiving theory and the concept of motivation, the purpose of this descriptive study was to examine parents’ retrospective accounts of their prenatal experiences after receiving the diagnosis of a fetal heart defect. These parents constituted a subgroup of participants in a larger longitudinal study of parenting an infant with a complex congenital heart defect. Data were derived from 14 semistructured interviews with 13 mothers and 3 fathers in the home or hospital setting. A directed content analysis yielded a central category of preparing heart and mind for infant caregiving. Preparing heart and mind is a preliminary caregiving goal within the caregiving system that generates intentions and expectations indicative of specific caregiving motivations to relate to the baby, handle circumstances practically, and manage infant medical care. A theoretical model illustrates the prenatal process these parents engaged in to provide care to their infants with life-threatening medical conditions. PMID:22927700

  1. Fetal akinesia/hypokinesia sequence: prenatal diagnosis and intra-familial variability.

    PubMed

    Bacino, C A; Platt, L D; Garber, A; Carlson, D; Pepkowitz, S; Lachman, R S; Sharony, R; Rimoin, D L; Graham, J M

    1993-11-01

    Intrauterine fetal movement plays a key role in normal embryonic and fetal development (Moessinger, 1983). When movement is absent or decreased, abnormal development takes place which can be appreciated in newborns and/or fetuses with the fetal akinesia/hypokinesia sequence. This sequence is caused by a number of heterogeneous entities which result in decreased fetal movements by the action of intrinsic or extrinsic factors. Prenatal diagnosis of the akinesia/hypokinesia sequence may be possible during the second trimester through the use of real-time ultrasonographic evaluation of fetal movement. We report a family with three consecutive affected pregnancies in which the prenatal presentation of this sequence varied. Based on the phenotypic findings of the three affected fetuses, we believe that although they superficially resemble those features found in the New-Laxova syndrome, they are probably affected with a distinctly different lethal form of akinesia/hypokinesia transmitted in an autosomal recessive fashion.

  2. Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound.

    PubMed Central

    Castiñeyra, G; Panal, M; Lopez Presas, H; Goldschmidt, E; Sánchez, J M

    1992-01-01

    A girl with Wiedemann-Rautenstrauch syndrome was born to a non-consanguineous couple. During the pregnancy, growth retardation particularly in the biparietal and abdominal diameters but not the femoral length was detected through serial ultrasound scans. When the woman became pregnant again, in spite of having been assessed as having a 25% risk of recurrence, the prenatal findings seen in her previous pregnancy led us to suggest sequential echography and a similar pattern of growth retardation was shown. After termination, the male fetus was found to be affected by Wiedemann-Rautenstrauch syndrome. This case shows that ultrasound examination can be a useful tool in the prenatal diagnosis of this rare, autosomal recessive syndrome. Images PMID:1619643

  3. [Noninvasive prenatal diagnosis of trisomy 21, 18 and 13 using cell-free fetal DNA].

    PubMed

    Gorzelnik, Katarzyna; Bijok, Julia; Zimowski, Janusz G; Jakiel, Grzegorz; Roszkowski, Tomasz

    2013-08-01

    Trisomy 21, 18 and 13 are the most common trisomies diagnosed in newborns. Screening methods consist of ultrasound and maternal serum markers. High risk for fetal aneuploidies is an indication for routine karyotyping, which requires collection of fetal tissue through amniocentesis or chorionic villous sampling. They are invasive procedures and carry a potential risk of miscarriage. The discovery of cell free fetal DNA (cffDNA) in maternal blood offered new opportunities for noninvasive prenatal diagnosis. The fraction of cell-free fetal DNA in total pool of cell-free DNA in maternal plasma is very low, therefore the analysis of cffDNA is very challenging. The introduction of massive parallel sequencing has enabled the application of noninvasive prenatal testing in the clinical practice and a variety of recent studies have proven its high efficacy in diagnosing common aneuploidies.

  4. Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with congenital anomalies.

    PubMed

    Li, Ru; Fu, Fang; Zhang, Yong-Ling; Li, Dong-Zhi; Liao, Can

    2014-12-01

    The objective of this study was to characterize the genetic abnormalities in two fetuses with congenital anomalies in prenatal screening. The mother of Fetus 1 was 26 years old and had a second trimester serum screening that indicated the fetus was at low risk. The prenatal ultrasound and magnetic resonance imaging (MRI) at 28 weeks of gestation showed mild ventriculomegaly, microcephaly, and agenesis of the corpus callosum. The mother of Fetus 2 was 25 years old and also had a second trimester serum screening that indicated the fetus was at low risk. The prenatal ultrasound at 32 weeks of gestation showed the presence of hyperechogenic and enlarged kidneys with multicystic renal dysplasia bilaterally and a persistent left superior vena cava (PLSVC). Both pregnant women underwent cord blood samplings because of the abnormal imaging results. Karyotype analysis revealed normal results in the two fetuses. Chromosome microarray analysis (CMA) was then performed to provide genetic analysis of the cord blood and parental blood samples. Ultimately, the pregnancies were both terminated. CMA detected a 1.56-Mb duplication at 17q12 in Fetus 1 and a 1.93-Mb deletion of 17q12 in Fetus 2. Both the duplicated and deleted regions included the HNF1B and LHX1 genes. Neither the duplication nor deletion was inherited from the parents. This study is the first to report the prenatal diagnosis of a 17q12 duplication syndrome. Our results further confirmed that genes in this region, including HNF1B and LHX1, are essential for normal brain and kidney development, and also indicated some genes that may be associated with the cardiovascular abnormality. Combined with imaging examination, the use of CMA will improve the diagnosis of submicroscopic chromosomal aberrations in fetuses with congenital anomalies. Copyright © 2014. Published by Elsevier B.V.

  5. Prenatal diagnosis of fetal aneuploidies using QF-PCR: the egyptian study

    PubMed Central

    Atef, Shereen H.; Hafez, Sawsan S.; Mahmoud, Nermein H.; Helmy, Sanaa M.

    2011-01-01

    Background The most common chromosomal abnormalities identified at birth are aneuploidies of chromosome 21, 18, 13, X and Y. Prenatal diagnosis of fetal aneuploidies is routinely done by traditional cytogenetic culture; a major drawback of this technique is the long period of time required to reach a diagnosis. In this study we evaluated the QF-PCR as a rapid technique for prenatal diagnosis of common aneuploidies. Method This work was carried out on Sixty amniotic fluid samples taken from patients with one or more of the following indications: advanced maternal age (3 case), abnormal biochemical markers (6 cases), abnormal ultrasound (12 cases) or previous history of abnormal child (39 cases). Each sample was tested by QF-PCR and traditional cytogenetic. Aneuploidy screenings were performed amplifying four STRs on chromosomes 21, 18, 13, two pseudoautosomal, one X linked, as well as the AMXY and SRY. Markers were distributed in two multiplex QFPCR assays (S1 and S2) in order to reduce the risk of sample mishandling. Results All the QF-PCR results were successful, while there were two culture failures, only one of them was repeated. No discrepancy was seen between the results of both techniques. Fifty six samples showed normal patterns, three samples showed trisomy 21, successfully detected by both techniques and one sample showed normal pattern by QF-PCR but could not be compared to the cytogenetic due to culture failure, the pregnancy outcome of this case was a normal baby. Conclusion Our study concluded that QF-PCR is a reliable technique for prenatal diagnosis of the common chromosomal aneuploidies. It has the advantages over the cytogenetic culture of being faster with the results appearing within 24–48 hours, simpler, doesn’t need a highly qualified staff, less prone to failure and more cost effective. PMID:22905299

  6. Prenatal diagnosis of Duchenne and Becker muscular dystrophies: Underestimated problem of the secondary prevention of monogenetic disorders.

    PubMed

    Massalska, Diana; Zimowski, Janusz Grzegorz; Roszkowski, Tomasz; Bijok, Julia; Pawelec, Magdalena; Bednarska-Makaruk, Małgorzata

    2017-07-01

    The aim of this study was to analyze the influence of effective preconceptional testing for carrier status in women at risk for Duchenne and Becker muscular dystrophies (D/BMD) on the prenatal diagnosis. A retrospective analysis of 201 prenatal tests was performed in 169 Polish women at risk, in regard to time of testing for carrier status (prior to conception or during pregnancy) and carrier status of tested women, including confirmed D/BMD carriers (n = 78; 46.2%), D/BMD non-carriers - tested for germline mosaicism risk (n = 23; 13.6%), and women at risk with uncertain carrier status (n = 68; 40.2%). Only 52.7% of women were tested for D/BMD carrier status prior to conception and in these women prenatal diagnosis was carried out more frequently in the first trimester of pregnancy (64.7% vs 47.8%; P = 0.035). The results of prenatal testing in male fetuses in pregnancies of confirmed D/BMD carriers and D/BMD non-carriers - tested for germline mosaicism risk were conclusive in all cases, whereas in women with uncertain carrier status, only 60.0% of results were conclusive. Eighty-five of 103 female fetuses (82.5%) were tested prenatally and in 31.8% of them fetal carrier status was confirmed. Carrier status testing in women prior to conception has a positive impact on the frequency of first-trimester prenatal diagnosis and known D/BMD carrier status on the effectiveness of prenatal diagnosis. Due to the low percentage of women tested effectively prior to conception, carrier status testing in the families at risk should be propagated (including possibility of prenatal diagnosis of female fetuses). © 2017 Japan Society of Obstetrics and Gynecology.

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

    PubMed

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

    2016-08-01

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

  8. Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes

    PubMed Central

    Pereira, Daniela Cardoso; Bussamra, Luiz Claudio Silva; Drummond, Carolina Leite; Nardozza, Luciano Marcondes Machado; Moron, Antonio Fernandes; Aldrighi, José Mendes

    2013-01-01

    Treacher-Collins syndrome (TCS) is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS) is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS) has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis. PMID:23653874

  9. Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes.

    PubMed

    Pereira, Daniela Cardoso; Bussamra, Luiz Claudio Silva; Araujo Júnior, Edward; Drummond, Carolina Leite; Nardozza, Luciano Marcondes Machado; Moron, Antonio Fernandes; Aldrighi, José Mendes

    2013-01-01

    Treacher-Collins syndrome (TCS) is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS) is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS) has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis.

  10. [Screening for carrier and prenatal diagnosis of X-linked adrenoleukodystrophy].

    PubMed

    Wang, Ai-hua; Bao, Xin-hua; Xiong, Hui; Pan, Hong; Wu, Ye; Zhang, Yue-hua; Shi, Chun-yan; Qin, Jiong; Wu, Xi-ru

    2005-05-01

    X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder characterized by progressive demyelination of the central nervous system, adrenal cortex insufficiency and accumulation of saturated very long chain fatty acids (VLCFAs) in tissues and body fluids due to the impaired beta-oxidation in peroxisomes. X-ALD shows a wide range of phenotypic variation. Childhood cerebral form (CCER) is the most common phenotype with severe neurological symptoms and often the average interval from onset to total disability or death is 3 years. So far no effective treatment is available for the underlying defect. Screening for carriers of mutated relevant gene and prenatal diagnosis are very important for the prevention of the disease. In this study, the authors explored the method of carrier screening and prenatal diagnosis of X-ALD. The plasma VLCFAs levels of 83 suspected carriers for ALD were determined by using GC/MS and ABCD1 gene mutational analysis was performed in 31 of them. Amniocentesis was performed in 9 suspected carriers for ALD during 18 - 30 gestational weeks. The VLCFAs level of cultured amniocytes was tested with GC/MS. ABCD1 gene mutational analysis was performed on two cases (one was a male and the other a female) whose VLCFAs levels of amniocytes were found elevated. The plasma VLCFAs levels were measured in five of the nine prenatally diagnosed children when they were 1 day to 3.5 years old. Fifty-one of 83 suspected carriers had high plasma VLCFAs levels; 29 of 31 suspected carriers showed ABCD1 gene mutation. Among the nine fetuses, four were males and five were females. The VLCFAs levels of the cultured amniocytes were high in two cases, one was female and the other a male. ABCD1 gene mutational analysis of these two cases showed a 871G > A (E291K) mutation and a 726G > A (W242X) mutation, respectively, which confirmed the biochemical result. The VLCFAs levels were normal in the rest of cases and five of them were confirmed by postnatal

  11. Utility of ultrasound and magnetic resonance imaging in prenatal diagnosis of placenta accreta: A prospective study

    PubMed Central

    Satija, Bhawna; Kumar, Sanyal; Wadhwa, Leena; Gupta, Taru; Kohli, Supreethi; Chandoke, Rajkumar; Gupta, Pratibha

    2015-01-01

    Context: Placenta accreta is the abnormal adherence of the placenta to the uterine wall and the most common cause for emergency postpartum hysterectomy. Accurate prenatal diagnosis of affected pregnancies allows optimal obstetric management. Aims: To summarize our experience in the antenatal diagnosis of placenta accreta on imaging in a tertiary care setup. To compare the accuracy of ultrasound (USG) with color Doppler (CDUS) and magnetic resonance imaging (MRI) in prenatal diagnosis of placenta accreta. Settings and Design: Prospective study in a tertiary care setup. Materials and Methods: A prospective study was conducted on pregnant females with high clinical risk of placenta accreta. Antenatal diagnosis was established based on CDUS and MRI. The imaging findings were compared with final diagnosis at the time of delivery and/or pathologic examination. Statistical Analysis Used: The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated for both CDUS and MRI. The sensitivity and specificity values of USG and MRI were compared by the McNemar test. Results: Thirty patients at risk of placenta accreta underwent both CDUS and MRI. Eight cases of placenta accreta were identified (3 vera, 4 increta, and 1 percreta). All patients had history of previous cesarean section. Placenta previa was present in seven out of eight patients. USG correctly identified the presence of placenta accreta in seven out of eight patients (87.5% sensitivity) and the absence of placenta accreta in 19 out of 22 patients (86.4% specificity). MRI correctly identified the presence of placenta accreta in 6 out of 8 patients (75.0% sensitivity) and absence of placenta accreta in 17 out of 22 patients (77.3% specificity). There were no statistical differences in sensitivity (P = 1.00) and specificity (P = 0.687) between USG and MRI. Conclusions: Both USG and MRI have fairly good sensitivity for prenatal diagnosis of placenta accreta; however

  12. Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity.

    PubMed

    Jung, C; Sohn, C; Sergi, C

    1998-04-01

    Routine prenatal ultrasound of a massively obese mother at 21 weeks of gestation revealed short-limb dwarfism in the fetus. The proportionate shortening of tubular bones of about 50 per cent of the normal length, the absence of thoracic dysplasia, and a normal head circumference narrowed the diagnosis down to a severe but non-lethal skeletal dysplasia. Ulnar deviation of the hands and talipes made diastrophic dysplasia the most likely differential diagnosis. At post-mortem clinical examination, the diagnosis of diastrophic dysplasia was clearly apparent due to highly specific 'hitch-hiker thumbs', similarly luxated big toes, facial dysmorphism, and a cleft palate. Retrospective re-evaluation of the prenatal ultrasound videos revealed the misplaced thumbs, which together with the ulnar deviation of the wrist and suspected talipes, led to the conclusion that the definitive diagnosis can be established prenatally, even in a mother with massive obesity.

  13. Compressibility of gastrointestinal tract tumors during transabdominal sonographic examination: a clue to the diagnosis of gastrointestinal lymphoma.

    PubMed

    Fujii, Yasutomo; Taniguchi, Nobuyuki; Koibuchi, Harumi; Yasuda, Yoshikazu; Nagai, Hideo

    2008-02-01

    To evaluate the use of sonography in the assessment of compressibility of the affected bowel in the differential diagnosis of gastrointestinal (GI) lymphoma. Thirty-two cases of advanced gastric cancer, 28 cases of advanced colon cancer, 7 cases of gastric lymphoma, and 6 cases of colon lymphoma were included in the study. To assess the compressibility of the affected bowel, a transducer was used to exert external compression. Deformation of the tumor and its lumen by compression was considered to indicate positive compressibility. Compressibility was absent in advanced gastric and colon cancer but was present in 11/13 (85%) cases of GI lymphoma. In the diagnosis of GI lymphoma, compressibility showed 85% (11/13) sensitivity, 97% (58/60) specificity, and 95% (69/73) overall accuracy. Compressibility of the affected bowel is a useful clue in the diagnosis of GI lymphoma. (c) 2007 Wiley Periodicals, Inc.

  14. Prenatal diagnosis of citrin deficiency in a Chinese family with a fatal proband.

    PubMed

    Zhao, Xin-Jing; Tang, Xiao-Mei; Zha, Qing-Bing; Shi, Shan-Shan; Song, Yuan-Zong; Xiao, Xiao-Min

    2011-12-01

    Citrin deficiency (CD) is an autosomal recessive disorder with SLC25A13 as causative gene that encodes citrin, the liver-type aspartate/glutamate carrier isoform 2 (AGC2). Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), the major CD phenotype at pediatric age, has been previously reported as a self-limiting condition with clinical presentations resolving between 6 months and 1 year of life. We report the prenatal diagnosis of CD in a family with a fatal NICCD proband. The proband was a 10-month-old male presenting cough for 8 days and jaundiced skin 1 day. Physical examination revealed fever, dark jaundiced sclera and skin, hoarse breathing sounds, and hepatosplenomegaly. Laboratory tests uncovered elevated cholestatic indices, increased ammonia, and prolonged activated partial thromboplastin time and prothrombin time, and reduced fibrinogen. Sonography showed the features of liver cirrhosis. Metabolome analysis uncovered large quantity of 4-hydroxyphenyllactate and dicarboxylates in urine and increased citrulline and methionine in blood. The patient passed away due to liver failure at his age of 13.5 months. Mutation analysis revealed him a homozygote of 851del4, a four-base deletion in exon 9 of SLC25A13 gene. On request of the parents who had a second fetus, prenatal diagnosis of CD was performed by PCR-electrophoresis following amniocentesis and amniocyte culture, and demonstrated the fetus a carrier of the same mutation. The fatal proband in the present report has provided clinical evidence challenging the traditional concept on NICCD prognosis. Moreover, as the first trial on CD prenatal diagnosis, this study might open a novel area for clinical management of CD.

  15. First-trimester prenatal diagnosis of Ellis-van Creveld syndrome.

    PubMed

    Chen, Chih-Ping; Chen, Chen-Yu; Chern, Schu-Rern; Su, Jun-Wei; Wang, Wayseen

    2012-12-01

    To present the perinatal findings and first-trimester molecular and transabdominal ultrasound diagnosis of a fetus with Ellis-van Creveld (EvC) syndrome. A 35-year-old woman was referred for genetic counseling at 13 weeks of gestation because of a family history of skeletal dysplasia. She had experienced one spontaneous abortion, and delivered one male fetus and one female fetus with EvC syndrome. During this pregnancy, a prenatal transabdominal ultrasound at 13(+4) weeks of gestation revealed a nuchal translucency (NT) thickness of 2.0 mm, an endocardial cushion defect, postaxial polydactyly of bilateral hands, and mesomelic dysplasia of the long bones. Amniocentesis was performed at 13(+5) weeks of gestation. Results of a cytogenetic analysis revealed a karyotype of 46,XX and that of a molecular analysis revealed compound heterozygous mutations of c.1195C>T and c.871-2_894del26 in the EVC2 gene. Prenatal ultrasound at 16 weeks of gestation showed a fetus with short limbs, an endocardial cushion defect, and postaxial polydactyly of bilateral hands. The parents decided to terminate the pregnancy, and a 116-g female fetus was delivered with a narrow thorax, shortening limbs, and postaxial polydactyly of the hands. Prenatal diagnosis of an endocardial cushion defect with postaxial polydactyly should include a differential diagnosis of EvC syndrome in addition to short rib-polydactyly syndrome, Bardet-Biedl syndrome, orofaciodigital syndrome, Smith-Lemli-Opitz syndrome, and hydrolethalus syndrome. Copyright © 2012. Published by Elsevier B.V.

  16. Identification of fetal mesenchymal stem cells in maternal blood: implications for non-invasive prenatal diagnosis.

    PubMed

    O'Donoghue, K; Choolani, M; Chan, J; de la Fuente, J; Kumar, S; Campagnoli, C; Bennett, P R; Roberts, I A G; Fisk, N M

    2003-08-01

    Strategies for genetic prenatal diagnosis on fetal cells in the maternal circulation have been limited by lack of a cell type present only in fetal blood. However, the recent identification of mesenchymal stem cells (MSC) in first trimester fetal blood offers the prospect of targeting MSC for non-invasive prenatal diagnosis. We developed protocols for fetal MSC enrichment from maternal blood and determined sensitivity and specificity in mixing experiments of male fetal MSC added to female blood, in dilutions from 1 in 10(5) to 10(8). We then used the optimal protocol to isolate fetal MSC from maternal blood in the first trimester, using blood taken after surgical termination of pregnancy as a model of increased feto-maternal haemorrhage. In model mixtures, we could amplify one male fetal MSC in 2.5 x 10(7) adult female nucleated cells, yielding a 100% pure population of fetal cells, but not one fetal MSC in 10(8) nucleated cells. Fetal MSC were identified in one of 20 post-termination maternal blood samples and confirmed as fetal MSC by XY fluorescence in-situ hybridization (FISH), immunophenotyping and osteogenic and adipogenic differentiation. We report the isolation of fetal MSC from maternal blood; however, their rarity in post-termination blood suggests they are unlikely to have a role in non-invasive prenatal diagnosis. Failure to locate these cells routinely may be attributed to their low frequency in maternal blood, to sensitivity limitations of enrichment technology, and/or to their engraftment in maternal tissues soon after transplacental passage. We speculate that gender microchimerism in post-reproductive maternal tissues might result from feto-maternal trafficking of MSC in early pregnancy.

  17. Non-invasive prenatal diagnosis of single-gene disorders from maternal blood.

    PubMed

    Bustamante-Aragonés, Ana; Rodríguez de Alba, Marta; Perlado, Sara; Trujillo-Tiebas, María José; Arranz, Javier Plaza; Díaz-Recasens, Joaquín; Troyano-Luque, Juan; Ramos, Carmen

    2012-08-01

    Prenatal diagnosis (PD) is available for pregnancies at risk of monogenic disorders. However, PD requires the use of invasive obstetric techniques for fetal-sample collection and therefore, involves a risk of fetal loss. Circulating fetal DNA in the maternal bloodstream is being used to perform non-invasive prenatal diagnosis (NIPD). NIPD is a challenging discipline because of the biological features of the maternal blood sample. Maternal blood is an unequal mixture of small (and fragmented) amounts of fetal DNA within a wide background of maternal DNA. For this reason, initial NIPD studies have been based on the analysis of specific paternally inherited fetal tracts not present in the maternal genome so as to ensure their fetal origin. Following this strategy, different NIPD studies have been carried out, such as fetal-sex assessment for pregnancies at risk of X-linked disorders, RhD determination, and analysis of single-gene disorders with a paternal origin. The study of the paternal mutation can be used for fetal diagnosis of dominant disorders or to more accurately assess the risk of an affected child in case of recessive diseases. Huntington's disease, cystic fibrosis, or achondroplasia are some examples of diseases studied using NIPD. New technologies are opening NIPD to the analysis of maternally inherited fetal tracts. NIPD of trisomy 21 is the latest study derived from the use of next-generation sequencing (NGS). Copyright © 2012 Elsevier B.V. All rights reserved.

  18. Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography.

    PubMed

    Helfer, Talita Micheletti; Peixoto, Alberto Borges; Tonni, Gabriele; Araujo Júnior, Edward

    2016-09-01

    Craniosynostosis is defined as the process of premature fusion of one or more of the cranial sutures. It is a common condition that occurs in about 1 to 2,000 live births. Craniosynostosis may be classified in primary or secondary. It is also classified as nonsyndromic or syndromic. According to suture commitment, craniosynostosis may affect a single suture or multiple sutures. There is a wide range of syndromes involving craniosynostosis and the most common are Apert, Pffeifer, Crouzon, Shaethre-Chotzen and Muenke syndromes. The underlying etiology of nonsyndromic craniosynostosis is unknown. Mutations in the fibroblast growth factor (FGF) signalling pathway play a crucial role in the etiology of craniosynostosis syndromes. Prenatal ultrasound`s detection rate of craniosynostosis is low. Nowadays, different methods can be applied for prenatal diagnosis of craniosynostosis, such as two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), computed tomography (CT) scan and, finally, molecular diagnosis. The presence of craniosynostosis may affect the birthing process. Fetuses with craniosynostosis also have higher rates of perinatal complications. In order to avoid the risks of untreated craniosynostosis, children are usually treated surgically soon after postnatal diagnosis.

  19. Rapid prenatal diagnosis of sickle cell anemia by a new method of DNA analysis.

    PubMed

    Embury, S H; Scharf, S J; Saiki, R K; Gholson, M A; Golbus, M; Arnheim, N; Erlich, H A

    1987-03-12

    We have used a new method of DNA analysis for the rapid prenatal diagnosis of sickle cell anemia in two fetuses at risk for this disease. This method of detecting the sickle gene is a modification of standard restriction-enzyme techniques and requires only a small amount of DNA. The first step involves a 200,000-fold enzymatic amplification of the specific beta-globin DNA sequences that may carry the sickle mutation. This provides a sufficient quantity of DNA for the analysis. Next, a short radiolabeled synthetic DNA sequence homologous to normal beta A-globin gene sequences is hybridized to the amplified target sequences. The hybrid "duplexes" are then digested sequentially with two restriction endonucleases. The presence of beta A- or beta S-globin gene sequences in the amplified target DNA from the patient determines whether the beta A-hybridization probe anneals perfectly or with a single nucleotide mismatch. This difference affects the restriction-enzyme digestion of the DNA and the size of the resulting radiolabeled digestion products, which can be distinguished by electrophoresis followed by autoradiography. This method is sufficiently sensitive and rapid that the prenatal diagnosis of sickle cell anemia can be made on the same day that the fetal DNA is made available. It can also be applied to the diagnosis of hemoglobin C disease.

  20. Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis.

    PubMed

    Lakovschek, Ioana Claudia; Streubel, Berthold; Ulm, Barbara

    2011-11-01

    Trisomy 13, trisomy 18, and triploidy belong to the chromosomal abnormalities which are compatible with life, but which are also associated with a high rate of spontaneous abortion, intrauterine death, and a short life span. This study was conducted to analyze natural outcome after prenatal diagnosis of these disorders. Between January 1, 1999 and December 31, 2009, we investigated all amniocenteses and chorionic villus biopsies carried out at our department. All cases with fetal diagnosis of triploidy, trisomy 13, and 18 were analyzed, with a focus on cases with natural outcome. Overall, 83 (78%) cases of pregnancy termination and 24 (22%) patients with natural outcome (NO) were identified. The NO group included 15 cases of trisomy 18, six cases of triploidy, and three cases of trisomy 13. No case of triploidy was born alive. The live birth rate was 13% for trisomy 18 and 33% for trisomy 13. The three live-born infants with trisomy 13 and 18 died early after a maximum of 87 hr postpartum. Our data are consistent with the literature concerning outcome of triploidy, with none or only a few live births. Analyzes of trisomy 13 and 18 indicate a very short postnatal life span. Different study designs and diverse treatment strategies greatly affect the fetal and neonatal outcome of fetuses with triploidy, trisomy 13, and 18. More studies analyzing natural outcome after prenatal diagnosis of these chromosomal abnormalities are needed. Non-termination of these pregnancies remains an option, and specialists advising parents need accurate data for counseling.

  1. Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography

    PubMed Central

    Britto, Ingrid Schwach Werneck; Regina Silva Herbest, Sandra; Tedesco, Giselle Darahem; Drummond, Carolina Leite; Bussamra, Luiz Claudio Silva; Ruano, Rodrigo; Ruano, Simone Hernandez; Aldrighi, José Mendes

    2014-01-01

    We report on a prenatal diagnosis of ring chromosome 15 in a fetus with left congenital diaphragmatic hernia (CDH) and severe intrauterine growth restriction (IUGR). A 31-year-old woman, gravida 2 para 1, was referred because of increased nuchal translucency at gestational age of 13 weeks. Comprehensive fetal ultrasound examination was performed at 19 weeks revealing an early onset IUGR, left CDH with liver herniation, and hypoplastic nasal bone. Three-dimensional ultrasound (rendering mode) showed low set ears and depressed nasal bridge. Amniocentesis was performed with a result of a 46,XX,r(15) fetus after a cytogenetic study. A 1,430 g infant (less than third percentile) was born at 36 weeks. The infant presented with respiratory failure and died at 2 h of life. Postnatal karyotype from the umbilical cord confirmed the diagnosis of 15-ring chromosome. We described the main prenatal 2D- and 3D-ultrasound findings associated with ring chromosome 15. The interest in reporting the present case is that CDH can be associated with the diagnosis of 15-ring chromosome because the critical location of the normal diaphragm development is at chromosome 15q26.1-q26.2. PMID:25389503

  2. Prenatal diagnosis of a fetus with ring chromosomal 15 by two- and three-dimensional ultrasonography.

    PubMed

    Britto, Ingrid Schwach Werneck; Regina Silva Herbest, Sandra; Tedesco, Giselle Darahem; Drummond, Carolina Leite; Bussamra, Luiz Claudio Silva; Araujo Júnior, Edward; Ruano, Rodrigo; Ruano, Simone Hernandez; Aldrighi, José Mendes

    2014-01-01

    We report on a prenatal diagnosis of ring chromosome 15 in a fetus with left congenital diaphragmatic hernia (CDH) and severe intrauterine growth restriction (IUGR). A 31-year-old woman, gravida 2 para 1, was referred because of increased nuchal translucency at gestational age of 13 weeks. Comprehensive fetal ultrasound examination was performed at 19 weeks revealing an early onset IUGR, left CDH with liver herniation, and hypoplastic nasal bone. Three-dimensional ultrasound (rendering mode) showed low set ears and depressed nasal bridge. Amniocentesis was performed with a result of a 46,XX,r(15) fetus after a cytogenetic study. A 1,430 g infant (less than third percentile) was born at 36 weeks. The infant presented with respiratory failure and died at 2 h of life. Postnatal karyotype from the umbilical cord confirmed the diagnosis of 15-ring chromosome. We described the main prenatal 2D- and 3D-ultrasound findings associated with ring chromosome 15. The interest in reporting the present case is that CDH can be associated with the diagnosis of 15-ring chromosome because the critical location of the normal diaphragm development is at chromosome 15q26.1-q26.2.

  3. Prenatal diagnosis of trisomy 21, 18 and 13 by quantitative pyrosequencing of segmental duplications.

    PubMed

    Tong, H; Jin, Y; Xu, Y; Zou, B; Ye, H; Wu, H; Kumar, S; Pitman, J L; Zhou, G; Song, Q

    2016-11-01

    Chromosomal aberration mostly occurs in chromosomes 21, 18 and 13, with an incidence approximately 1 out of 160 live births in humans, therefore making prenatal diagnosis necessary in clinics. Current methods have drawbacks such as time consuming, high cost, complicated operations and low sensitivity. In this paper, a novel method for rapid and accurate prenatal diagnosis of aneuploidy is proposed based on pyrosequencing, which quantitatively detects the peak height ratio (PHR) of different bases of segmental duplication. A direct polymerase chain reaction (PCR) approach was undertaken, where a small volume of amniotic fluid was used as the starting material without DNA extraction. Single-stranded DNA was prepared from PCR products and subsequently analyzed using pyrosequencing. The PHR between target and reference chromosome of 2.2 for euploid and 3:2 for a trisomy fetus were used as reference. The reference intervals and z scores were calculated for discrimination of aneuploidy. A total of 132 samples were collected, within trisomy 21 (n = 11), trisomy 18 (n = 3), trisomy 13 (n = 2), and unaffected controls (n = 116). A set of six segmental duplications were chosen for analysis. This method had consistent results with karyotyping analysis, a correct diagnosis with 100% sensitivity and 99.9% specificity. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  4. Prenatal diagnosis of Chiari malformation with syringomyelia in the second trimester.

    PubMed

    Iruretagoyena, Jesus Igor; Trampe, Barbara; Shah, Dinesh

    2010-02-01

    Routine anatomic ultrasound performed in the second trimester has a detection rate of approximately 70-90% for fetal congenital abnormalities (Nyberg and Souter, J Ultrasound Med 2001;6:655-674). The central nervous system abnormalities are one of the most common ones detected. Chiari malformation is among the CNS abnormalities diagnosed in the fetal period (Bianchi et al., Fetology - diagnosis and management of the fetal patient, McGraw-Hill, 2000). The Arnold-Chiari malformation was first described in 1883 by Cleland (Romero et al., Prenatal diagnosis of congenital anomalies, Appleton and Lange, 1988). It is characterised by the prolapse of the hindbrain structures below the level of the foramen magnum. It can be associated with skeletal abnormalities and neurological dysfunction. In type I, a lip of cerebellum is downwardly displaced with the tonsils, but the fourth ventricle remains in the posterior fossa. This condition may coexist with syringomyelia, which is a cyst formation on the cervical portion of the spinal cord (Creasy et al., Maternal fetal medicine principles and practice, 2004). We present a case where Chiari type 1 and syringomyelia detected at 18 weeks of gestation. The reason for referral to our center was an abnormal inward posturing of both upper and lower extremities (minimal gross movement and almost inexistent range of motion on fetal joints). On further fetal evaluation, an abnormal brain ultrasound was identified. Prenatal diagnosis of Chiari type 1 malformation and syringomyelia is almost nonexistent when reviewing the literature is the reason why this case is presented.

  5. [Non invasive prenatal diagnosis. Fetal nucleic acid analysis in maternal blood].

    PubMed

    Sesarini, Carla; Argibay, Pablo; Otaño, Lucas

    2010-01-01

    Current prenatal diagnosis of monogeneic and chromosomal diseases, includes invasive procedures which carry a small but significant risk. For many years, analysis of fetal cells in maternal circulation has been studied, however it has failed its clinical use due to the scarcity of these cells and their persistance after delivery. For more than a decade, the presence of cell-free fetal DNA in maternal blood has been identified. These fetal DNA fragments would derive from the placenta and are not detected after delivery, making them a source of fetal material for carrying out diagnosis techniques using maternal blood. However, the vast majority of cell free DNA in maternal circulation is of maternal origin, with the fetal component contributing from 3% to 6% and rising towards term. Available methodologies do not allow separation of fetal from maternal cell free DNA, so current applications have been focused on the analysis of genes not present in the mother, such as Y chromosome sequences, or RHD gene in RhD-negative women, or paternal or de novo mutations. Also, the detection of cell-free fetal RNA in maternal blood offers the possibility of obtaining information regarding genetic expression profiles of embrionic tissues, and using genes expressed only at the feto-placental unit, controls for the presence of fetal material could be established, regardless of maternal genetic tissue. The present article describes the evidences regarding the passage of fetal nucleic acids to maternal circulation, its current prenatal diagnosis application and possible future perspectives.

  6. Terminating pregnancy after prenatal diagnosis--with a little help of professional ethics?

    PubMed

    Schmitz, Dagmar

    2012-07-01

    Termination of pregnancy after a certain gestational age and following prenatal diagnosis, in many nations seem to be granted with a special status to the extent that they by law have to be discussed within a predominantly medical context and have physicians as third parties involved in the decision-making process ('indication-based' approach). The existing legal frameworks for indication-based approaches, however, do frequently fail to provide clear guidance for the involved physicians. Critics, therefore, asked for professional ethics and professional institutions in order to provide normative guidance for the physicians in termination of pregnancy on medical grounds. After outlining the clinical pathway in an indication-based approach and the involved types of (clinical) judgements, this paper draws upon different understandings of professional ethics in order to explore their potential to provide normative guidance in termination of pregnancy on medical grounds. The analysis reveals that professional ethics will not suffice-neither as a set of established norms nor as internal morality-in order to determine the normative framework of indication-based approaches on termination of pregnancy. In addition, there seem to be considerable inconsistencies regarding the target and outcome between prenatal testing on the one hand and following termination of pregnancy on the other hand. A source of morality external to medicine has to be the basis of evaluation if a consistent and workable normative framework for termination of pregnancy and prenatal testing should be established.

  7. 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

  8. Information following a Diagnosis of Congenital Heart Defect: Experiences among Parents to Prenatally Diagnosed Children

    PubMed Central

    Carlsson, Tommy; Bergman, Gunnar; Melander Marttala, Ulla; Wadensten, Barbro; Mattsson, Elisabet

    2015-01-01

    Background Prenatal screening of pregnant women in Sweden has improved the detection of major congenital heart defects (CHD). The aim was to explore parental experiences and need for information following a prenatal diagnosis of CHD. Methods Semi-structured interviews conducted with six fathers and five mothers to seven prenatally diagnosed children. Data were analyzed through content analysis. Results Three themes and 9 categories emerged. Theme 1, Grasping the facts today while reflecting on the future, containing five categories: Difficulties sorting out information when in emotional chaos; Respectful information regarding termination of pregnancy; Early information is crucial; Understanding the facts regarding the anomaly; Preparing for the future. Theme 2, Personal contact with medical specialists who give honest and trustworthy information is valued, containing two categories: Trust in information received from medical specialists and Truth and honesty is valued. Theme 3, An overwhelming amount of information on the Internet, containing two categories: Difficulties in finding relevant information and Easy to focus on cases with a poor outcome when searching the Internet. Conclusion Early and honest information in line with individual preferences is crucial to support the decisional process regarding whether to continue or terminate the pregnancy. The use of illustrations is recommended, as a complement to oral information, as it increases comprehension and satisfaction with obtained information. Furthermore, the overwhelming amount of information on the Internet calls for compilation of easily accessible and reliable information sources via the Internet. PMID:25692879

  9. Attitudes towards prenatal diagnosis and termination of pregnancy for thalassaemia in pregnant Pakistani women in the North of England.

    PubMed

    Ahmed, Shenaz; Green, Josephine M; Hewison, Jenny

    2006-03-01

    Most births of children affected with beta-thalassaemia major in the United Kingdom are to parents of Pakistani origin. A popular explanation for this is that Pakistanis decline termination of pregnancy on religious grounds. However, various factors influence people's attitudes towards prenatal diagnosis and termination of pregnancy, which have not been investigated in a UK Pakistani sample. This study is aimed at exploring the attitudes of pregnant Pakistani women towards prenatal diagnosis and termination of pregnancy for beta-thalassaemia major in the North of England. Forty-three pregnant women tested for thalassaemia carrier status were interviewed following receipt of their test results. Interviews were analysed using the grounded theory approach. Findings showed: (1) women's awareness of and attitudes towards prenatal diagnosis; (2) the relationship between attitudes towards prenatal diagnosis and termination of an affected foetus; (3) the relationship between attitudes towards termination of pregnancy and religious beliefs, perceptions of severity of the condition, influence of significant others, and (4) the impact of gestational age at the time of the offer of termination of pregnancy. Pakistani women's attitudes towards prenatal diagnosis and termination of pregnancy are influenced by various factors, and therefore their religion should not be taken as a proxy for their attitudes either for or against termination of pregnancy. 2006 John Wiley & Sons, Ltd.

  10. Awareness and attitude toward prenatal diagnosis of chromosomal abnormalities in patients with no access to legal termination of pregnancy.

    PubMed

    Gadow, E; Petracchi, F; Igarzabal, L; Gadow, A; Quadrelli, R; Krupitzki, H

    2006-10-01

    To analyze variables affecting couples' decision making about prenatal cytogenetic diagnosis in patients with no access to legal termination of pregnancy (TOP). Patients undergoing invasive prenatal diagnosis were anonymously surveyed after counseling and before the procedure. The questionnaire enquired about sociodemographic features, medical history, knowledge of and attitudes toward genetic testing and TOP. Two genetic units distributed 372 questionnaires. Mean maternal age was 36 +/- 4 years. Access to prenatal genetic counseling was mainly patient's own initiative, or 'self-referral'. Most self-referred patients (87%) considered that 'receiving accurate information' was the main issue. Eighty-one per cent of all couples knew that TOP because of fetal anomalies was not legal. In case of a serious anomaly, 68.2% of patients would contemplate TOP, in spite of the risk of being exposed to an unsafe abortion. In many countries, prenatal genetic testing is offered, but TOP is not available. In the present study, although most of the couples who decided to undergo prenatal genetic testing were aware of this, they still chose to perform prenatal diagnosis. The main reason given was to obtain reliable information about fetal condition. Finally, if a fetal chromosomal abnormality were detected, most of them would consider TOP.

  11. Prenatal diagnosis and postnatal management of congenital laryngeal atresia in a preterm infant.

    PubMed

    Colnaghi, M; Condo, V; Gagliardi, L; Mirabile, L; Fumagalli, M; Mosca, F

    2007-05-01

    Laryngeal atresia is a rare congenital cause of high airway obstruction that can lead to death if not correctly recognized and treated at birth. Postnatal management is difficult and the prognosis is often poor. We report a case of prenatal diagnosis of laryngeal atresia in a fetus that was delivered preterm at 29 weeks of gestation. Tracheotomy was performed as an ex utero intrapartum treatment (EXIT) to guarantee patent airway, and laryngotracheoplasty was performed at 22 months of corrected age. A favorable ventilatory and neurodevelopmental outcome was observed at 33 months of age. Copyright (c) 2007 ISUOG.

  12. Prenatal Diagnosis of a Congenital Postaxial Longitudinal Limb Defect: A Case Report

    PubMed Central

    Pauleta, Joana; Melo, Maria Antonieta; Graça, Luís Mendes

    2010-01-01

    Introduction. Although congenital longitudinal fibular deficiency is one of the most common long bone deficiencies, there are few published cases of its prenatal diagnosis. Case report. A right longitudinal deficiency of the fibula associated with tibial shortening, foot equinovalgus, and absence of the fourth and fifth foot rays diagnosed at 22 weeks gestation is described. Sequential ultrasonographic surveillance was performed without obstetric complications. The anomaly was confirmed after birth, and conservative orthopaedic management was decided. Conclusion. Though rarely seen, postaxial longitudinal limb defect may be detected by ultrasound. The correct approach can only be decided after birth, when the functional impact of the anomaly can be fully evaluated. PMID:20592750

  13. 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.

  14. Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation.

    PubMed

    Kwee, M L; van de Sluijs, J A; van Vugt, J M G; Wijnaendts, L C D; Gille, J J P

    2004-08-01

    A grandmother, her three children, and three grandchildren had skeletal abnormalities consisting of a short stature, bilateral symmetrical very short, broad and bowed radii, very short and broad ulna, mildly short lower legs, short proximal end of fibula, abnormal ankles, abnormal calcaneus and talus and pes equinus. They had normal craniofacial features, normal intelligence and normal chromosomes. We concluded that this skeletal dysplasia resembles the autosomal dominant mesomelic dysplasia, Kantaputra type. Prenatal diagnosis by ultrasound examination early in the pregnancy was possible. We found no evidence for a SHOX gene deletion or point mutation. As far as we know this is the third reported family with this skeletal dysplasia.

  15. Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis

    PubMed Central

    David, Liji Sarah; Beck, Manisha Madhai; Bindra, Mandeep Singh; Arunachal, Gautham

    2015-01-01

    Harlequin Ichthyosis (HI) is an extremely rare genetic skin disorder. It is the most severe type of ichthyosis. It is characterized by thickened, dry, rough and armor like plates of skin with deep cracks in between. Alternative names for HI include- keratosis diffusafetalis, ichthyosis congenital, icthyosis fetalis, harlequin fetus and icthyosis congenital gravior. It is an autosomal recessive disorder with the majority of affected individuals being homozygous for mutation in the ABCA 12 gene. This condition presents with a wide range of severity and symptoms. Affected neonates usually do not survive beyond first few days of life. We are presenting prenatal diagnosis of a case of this rare condition. PMID:26675324

  16. Prenatal diagnosis of Langer-Giedion Syndrome confirmed by BACs-on-Beads technique.

    PubMed

    Piotrowski, Krzysztof; Halec, Wojciech; Wegrzynowski, Jerzy; Pietrzyk, Aleksandra; Henkelman, Małgorzata; Zajaczek, Stanisław

    2014-01-01

    Langer-Giedion Syndrome (LGS), with characteristic phenotypic features including craniofacial dysmorphic signs, postnatal growth retardation and skeletal abnormalities, mental impairment, urogenital malformations and heart defects, is caused by partial deletions of the long arm of chromosome 8. We present a case of a female fetus with LGS. The diagnosis was molecularly proven with the BACs on Beads method at 32 weeks of gestation. To the best of our knowledge, prenatal recognition of that genetic defect had previously been made in only one case. Also, it has never been described before.

  17. An Important Clue in the Sonographic Diagnosis of Internal Carotid Artery Agenesis: Ipsilateral Common Carotid Artery Hypoplasia

    PubMed Central

    Kaya, Omer; Yilmaz, Cengiz; Gulek, Bozkurt; Soker, Gokhan; Cikman, Gokalp; Inan, Ibrahim; Demirduzen, Selahaddin

    2014-01-01

    A 42-year-old female patient, who had been diagnosed with an occlusion of her left internal carotid artery (ICA) following Doppler ultrasonographic (US) and digitally-subtracted angiographic (DSA) examinations performed in an outer healthcare center in order to eliminate the underlying cause of her complaint of amorosis fugax, later applied to our hospital with the same complaint. At Doppler US performed in our hospital's radiology department, her right common carotid artery (CCA) was normal, but her left CCA was hypoplastic. The right internal artery (ICA) was validated as normal. At the left side, however, the ICA was apparent only as a stump and it did not demonstrate a continuity. The diagnosis of ICA agenesis was confirmed by the utilization of Doppler US, CT, and DSA imaging, and it was concluded also that ipsilateral CCA hypoplasia could be evaluated as an important clue to the diagnosis of ICA agenesis. PMID:25097789

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

    PubMed

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

    2017-09-15

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

  19. Feasibility of predicting the outcome of fetal infection with cytomegalovirus at the time of prenatal diagnosis.

    PubMed

    Leruez-Ville, Marianne; Stirnemann, Julien; Sellier, Yann; Guilleminot, Tiffany; Dejean, Anne; Magny, Jean-François; Couderc, Sophie; Jacquemard, François; Ville, Yves

    2016-09-01

    Congenital cytomegalovirus infection occurs in 0.7% of live births with 15-20% of infected children developing long-term disability including hearing loss and cognitive deficit. Fetal cytomegalovirus infection is established by viral DNA amplification by polymerase chain reaction in amniotic fluid obtained by amniocentesis following maternal seroconversion or after the diagnosis of ultrasound features suggestive of fetal infection. Severe brain ultrasound anomalies are associated with a poor prognosis. The prognosis of an infected fetus showing either no ultrasound features or nonsevere ultrasound anomalies is difficult to establish up until late in the second or third trimester of pregnancy. We sought to evaluate the prognostic value of fetal ultrasound, amniotic fluid, and fetal blood analysis at the time of prenatal diagnosis of fetal infection. We reviewed all cases of fetal cytomegalovirus infection with a sample of amniotic fluid positive for viral DNA and/or fetal blood analyzed in our laboratory from 2008 through 2013. Prenatal ultrasound features along with cytomegalovirus DNA loads in amniotic fluid and in fetal blood and fetal platelet counts were reviewed in relation to gestational age at maternal infection, neonatal examination, and postnatal follow-up or postmortem examination. In all, 82 fetuses were infected following maternal infection mainly in the first trimester. At the time of prenatal diagnosis at a median of 23 weeks, 19, 22, and 41 fetuses showed severe brain ultrasound abnormalities, nonsevere ultrasound features, and normal ultrasound examination, respectively. Nonsevere ultrasound features, higher DNA load in amniotic fluid, fetal platelet count ≤114,000/mm(3), and DNA load ≥4.93 log10 IU/mL in fetal blood were associated with a symptomatic status at birth in univariate analysis (P < .001, P = .001, and P = .018, respectively). Bivariate analysis combining ultrasound results and either adjusted viral load in amniotic fluid or fetal

  20. [Calcified portal vein thrombosis in the follow-up of surgical portocaval shunt: Sonographic findings and differential diagnosis].

    PubMed

    Danse, E; Horsmans, Y

    2006-11-01

    The case of a patient with large hepatic calcifications along the portal vascular network caused by long-standing portal vein thrombosis is presented. These calcifications appeared in extended portal thrombosis and were confirmed in follow-up for a surgical portocaval shunt related to portal hypertension. The differential diagnosis should distinguish these from hyperechoic patterns observed along the periportal vascular network, including intraductal biliary stones, portal venous gas, gas in the biliary tract, biliary comet tail artifacts, periportal fibrosis in parasitosis, and calcifications of the hepatic arteries.

  1. Sonographic diagnosis of acute mastoiditis and subsequent retroauricular abscess in a pediatric cochlear implant recipient: A case report.

    PubMed

    Sakaida, Hiroshi; Usui, Satoko; Matsuda, Yasunori; Masuda, Sawako; Takeuchi, Kazuhiko

    2017-10-01

    When acute mastoiditis occurs in cochlear implant recipients, it can progress to subsequent retroauricular abscess due to the absence of the external mastoid cortex resulting from mastoidectomy performed for cochlear implantation. The management goal is to control infection while preserving the implanted device. A 2-year-old boy with cochlear implants developed acute mastoiditis and a subsequent retroauricular abscess. The patient underwent a surgical intervention based on the diagnosis made utilizing gray-scale and power Doppler sonography. This case illustrates the diagnostic usefulness of sonography in this rare situation. © 2017 Wiley Periodicals, Inc. J Clin Ultrasound 45:515-519, 2017. © 2017 Wiley Periodicals, Inc.

  2. Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia

    PubMed Central

    Zhao, Rong; Ruan, Yan; Wang, Xin

    2015-01-01

    Objective: To investigate the feasibility of whole exome sequencing (WES) and whole genome re-sequencing (WGS) in the prenatal diagnosis of achondroplasia (ACH). Methods: Eleven highly suspected with ACH or hypochondroplasia (HCH) fetuses and their parents were enrolled in this study. Routine prenatal examinations were carried out in all pregnant women. WGS was performed for the detection of copy number variation (CNV). WES was conducted to determine the mutation of fibroblast growth factor receptor 3 (FGFR3) gene in one special family with rickets and dwarfism. Moreover, all subjects were performed Sanger sequencing for the screening of high frequent mutation sites in FGFR3 gene. Results: For ultrasound (US) examination, short femur was noted in all fetuses with FL less than 4SD and 2SD in 8 cases and one case compared with those of normal gestational weeks, respectively. CNV abnormality was identified in 5 cases, including heterozygous deletion in 4 cases and heterozygous duplication in one case. Among these variation, one case was acknowledged to be pathogenic, one case was identified as genomic polymorphism, while the pathogenicity remained unknown in other 3 cases. For the exome and Sanger sequencing, heterozygous mutation p.Tyr278Cys (833A>G) was noted in the fetus and husband of the special family, while homozygous c.1959+19G>A mutation was identified in another case. Conclusion: Multiple sequencing technologies may provide an additional diagnostic tool and facilitates genetic counseling in the patients with ACH. Further improvement of gene sequencing should be done in the prenatal diagnosis for the mutant screening in other genes. PMID:26770560

  3. Awareness among parents of β-thalassemia major patients, regarding prenatal diagnosis and premarital screening.

    PubMed

    Ishaq, Fouzia; Abid, Hasnain; Kokab, Farkhanda; Akhtar, Adil; Mahmood, Shahid

    2012-04-01

    To assess the knowledge among parents of thalassemia major patients about prenatal diagnosis, premarital screening for carrier detection and impact of consanguineous marriage on disease transmission. Descriptive study. The Thalassemia Centre, Sir Ganga Ram Hospital, Lahore, from July to September 2009. One hundred and fifteen parents of β-thalassemia major patients were enrolled in this study. A questionnaire was developed and parents were interviewed to assess their knowledge about preventive measures against thalassemia major. Parents of patients with all other types of blood disorder were excluded from the study. There were 74 male (64.3%) and 41 female (35.7) patients with mean age of 9.5 ± 5.1 years. Eighty-eight patients (76.5%) were accompanied by mothers and the rest by their fathers. Seventy-four parents (32.1%) were illiterate; among the literates only 7 were highly educated (3%). Ninety-four couples (81.7%) had consanguineous marriage. Fiftytwo parents (44.6%) knew that thalassemia is an inherited disorder. Thirty-eight (33%) had heard about the test for detecting thalassemia carrier. Premarital screening and prenatal diagnosis was known to 97 (84.3%) and 88 (76.5%) parents respectively. Ninety-nine parents (86.1%) knew about the termination of pregnancy on positive prenatal test but only 69 considered it acceptable religiously (60%). Major source of information to the parents were doctors. Parental knowledge about thalassemia and its preventive measures was inadequate; this requires intervention in the form of public health education programs concentrating on high risk/targeted population.

  4. Prenatal diagnosis and prevention of toxoplasmosis in pregnant women in Northern Vietnam: study protocol.

    PubMed

    Smit, G Suzanne A; Vu, Thi Lam Binh; Do, Trung Dung; Speybroeck, Niko; Devleesschauwer, Brecht; Padalko, Elizaveta; Roets, Ellen; Dorny, Pierre

    2017-05-25

    In Vietnam, no systematic prenatal toxoplasmosis screening is in place, and only few studies have assessed the prevalence and importance of this zoonotic parasite infection. In addition, no studies have been conducted to assess the risk factors associated with toxoplasmosis. This study protocol was developed to determine the seroprevalence of toxoplasmosis in pregnant women in Hanoi and Thai Binh, Northern Vietnam, and to evaluate the association with risk factors and congenital toxoplasmosis. The protocol was developed in a way that it could potentially evolve into a countrywide prenatal diagnosis and prevention program, with the main focus on primary prevention. The collaborating gynaecologists will invite eligible pregnant women attending antenatal care for the first time to participate in the study. At first consult, information about toxoplasmosis and its prevention will be provided. All participants will be asked to fill in a questionnaire, which is designed to analyse socio-demographic and biologically plausible risk factors associated with toxoplasmosis, and blood samples will be collected to determine the seroprevalence of toxoplasmosis in pregnant women. In case there is suspicion of a primary infection during pregnancy, the concerned women will be followed-up by the gynaecologists according to a predefined protocol. Every participant will be informed on her serological status, risk factors and prevention measures and is offered appropriate medical information and medical follow-up if required. The hypothesis is that congenital toxoplasmosis is an important but currently under-diagnosed public health problem in Vietnam. This study can strengthen sustainable control of toxoplasmosis in Vietnam, provide a protocol for prenatal diagnosis, boost overall awareness, improve the knowledge about toxoplasmosis prevention and can be essential for evidence-based health policy.

  5. Sonographic Diagnosis in a Rare Aetiology of Neonatal Scrotal Swellings: A Case Report of Congenital Nephrotic Syndrome

    PubMed Central

    Grover, Shabnam Bhandari; Kumar, Nishith; Grover, Hemal; Taneja, Dinesh Kumar; Katyan, Amit

    2016-01-01

    Summary Background Common etiologies of scrotal swelling in neonates include hydrocoele, inguinal hernia and testicular torsion; less common is epididymo-orchitis. Congenital nephrotic syndrome (CNS), a rare entity, is known to present as progressive renal failure and its leading presentation with scrotal involvement has not been reported. Material/Methods We report a rare case of CNS with primary clinical presentation as scrotal cellulitis and epididymo-orchitis. In this neonate, scrotal and abdominal ultrasound examination was performed and the laboratory data were obtained. Results Sonography revealed bilaterally enlarged echogenic kidneys, testis and epididymis with echogenic peritoneal fluid tracking into both scrotal sacs. Laboratory data revealed proteinuria and severe depletion of serum IgG. Culture of the peritoneal fluid showed gram-negative organisms. A final diagnosis of CNS, complicated with peritonitis tracking into the scrotal sacs was arrived at. Conclusions CNS may have a rare presentation with distracting symptoms of scrotal cellulitis and epididymo-orchitis, as seen in our patient. However, diligent use of abdomino-scrotal sonography, supported by relevant laboratory data can clinch the accurate diagnosis. PMID:27757175

  6. Spectrum of cystic fibrosis mutations in Serbia and Montenegro and strategy for prenatal diagnosis.

    PubMed

    Radivojevic, Danijela; Djurisic, Marina; Lalic, Tanja; Guc-Scekic, Marija; Savic, Jovan; Minic, Predrag; Antoniadi, Thalia; Tzetis, Maria; Kanavakis, Emmanuel

    2004-01-01

    We have screened 175 patients for molecular defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene using nondenaturing polyacrylamide gel electrophoresis (PAGE), denaturing gradient gel electrophoresis (DGGE), and sequencing. Six different mutations (F508del, G542X, 621+1G --> T, 2789+5G --> A, R1070Q, and S466X) accounted for 79.71% of CF alleles, with the F508del mutation showing a frequency of 72.28%. Another 12 mutations (R334W, 2184insA, I507del, 1525-1G --> A, E585X, R75X, M1I, 457TAT --> G, 574delA, 2723delTT, A120T, and 2907delTT) covered an additional 3.36%. A novel mutation (2723delTT) was found in one CF patient (F508del/2723delTT). Thus, a total of 18 mutations cover 82.57% of CF alleles. During our study, 72% of families at risk for having a CF child were found to be fully informative for prenatal diagnosis. Prenatal diagnosis was performed on 56 families; 76 analyses resulting in 16 affected, 38 carriers, and 22 healthy fetuses. These results imply that the molecular basis of CF in Serbia and Montenegro is highly heterogeneous, as is observed in other eastern and southern European populations. Because we detected more then 80% of CFTR alleles, results could be used for planning future screening and appropriate genetic counseling programs in our country.

  7. Prenatal diagnosis for beta-thalassemia major in the Iranian Province of Hormozgan.

    PubMed

    Nikuei, Pooneh; Hadavi, Valeh; Rajaei, Minoo; Saberi, Mozhgan; Hajizade, Fozieh; Najmabadi, Hossein

    2008-01-01

    beta-Thalassemias are a group of heterogenous recessive disorders common in many parts of the world. Despite the great advances in the treatment of thalassemia, there is so far no cure, but perhaps bone marrow transplantation (BMT) is a possibility. Prevention, using prenatal diagnosis and selective abortion in the cases where the fetus is found to be affected, should be considered as a sensible alternative. During the past 5 years, 112 couples have been referred to our Center for detection of their beta-thalassemia (beta-thal) carrier status. In this group, common and rare mutations were detected. Of these, 106 couples (94.6%) came for counseling during pregnancy and six (5.4%) came before becoming pregnant. Prenatal diagnosis was performed for the 106 couples at risk. Fetal DNA was obtained from both chorionic villus sampling (CVS) (99) and amniotic fluid (7). Using reverse hybridization, 64 (60.4%) were found to be heterozygous for a beta-thal mutation and 24 (22.6%) were normal. Eighteen (17.0%) were found to carry an affected fetus and these pregnancies were terminated.

  8. [Prenatal diagnosis of a case with X-linked spondyloepiphyseal dysplasia tarda].

    PubMed

    Cao, Fang; Wang, Qiu-wei; Yu, Bin; Huang, Rui-ping; Hu, Ya-li; Zhang, Xiao-qing

    2013-10-01

    To analyze TRAPPC2 gene mutation in a family with X-linked spondyloepiphyseal dysplasia tarda and to provide genetic counseling and prenatal diagnosis. All of 4 exons of the TRAPPC2 gene and their flanking sequences in the proband and her father were analyzed with polymerase chain reaction and direct DNA sequencing. Genomic DNA of the probands' fetus was extracted from amniotic fluid sampled at 18th gestational week. Gender of the fetus was determined by the presence of SRY gene. The sequence of fetal TRAPPC2 gene was also analyzed. A c.209G>A mutation was identified in exon 4 of the TRAPPC2 gene in the proband and her father. The fetus of was determined to be a male and also have carried the c.209G>A mutation. A c.209G>A mutation of TRAPPC2 exon 4 probably underlies the clinical manifestations in this family. The proband is a carrier, and her fetus is a male carrying the same mutation. Prenatal diagnosis is an effective method for the prevention of the disease.

  9. Prenatal diagnosis of abnormal umbilical cord insertion: a rare case of furcate insertion.

    PubMed

    Fujita, Yasuyuki; Yumoto, Yasuo; Kato, Kiyoko

    2017-04-01

    Furcate insertion (FI) is an extremely rare abnormality of umbilical cord insertion. One of the complications associated with FI is hemorrhage from the umbilical vein at the site of FI of the umbilical cord, which can cause sudden intrauterine fetal death. Because of its rarity, no prenatal diagnosis of FI has been reported. A 31-year-old woman at 34 weeks' gestation was referred to us for suspected abnormal cord insertion. Ultrasonography showed normal fetal growth and amniotic fluid volume, with no fetal anomalies. Although the umbilical cord contained three vessels inserted at the center of the placenta, the umbilical vessels separated from the cord substance before their insertion to the placenta. Based on these findings, the patient was diagnosed with FI. During labor at 37 weeks' gestation, fetal heart rate was normal and a healthy neonate was delivered. At macroscopic examination, the umbilical cord was inserted in the middle of the placenta, and the placental parenchymal tissue just under the cord insertion was deficient and had been changed to white, elastic hard tissue. Pathological examination of the white tissue revealed fibrin deposition and focal infarction. Although FI is a very rare condition, prenatal diagnosis can be achieved through detailed color Doppler ultrasound studies. Therefore, taking precautions and keeping in mind the poor fetal outcome associated with FI are preferred.

  10. [Prenatal diagnosis of Down syndrome: study of correlations between two types of blood collection tubes].

    PubMed

    Laudat, Antoine; Girard, Philippe; Burc-Struxiano, Laurence

    2015-01-01

    In the perspective of a future request of accreditation according to the NF EN 15189 standard of the sector of prenatal diagnosis of the trisomy 21 foetal, we compared the results obtained for AFP, hCG, free hCG, PAPP-A and for the risks, according to 2 types of blood collection tubes: sterile tube and sterile tube with inert gel barrier. For 107 patients, the study of the Passing-Bablok regressions between the results from the 2 kinds of tubes, showed perfect correlations for measured biochemical markers (AFP, hCG, free hCG and PAPP-A) as well as for the estimated risks. A patient who presented a higher risk of foetal trisomy 21 (risk at 1/244) for the serum from the sterile tube was not in the high-risk area for the serum from the sterile tube with inert gel barrier (risk at 1/295). The fact that these 2 values of risk are very close to the threshold fixed to 1/250 can probably explain the observed conflict. Working on sterile tube, this study confirms that the requests of prenatal diagnosis of the trisomy 21 foetal taken from tube with inert gel barrier which we receive of outer laboratories.

  11. Early and rapid prenatal diagnosis of monosomy 2q36.1 in trophoblast cells.

    PubMed

    Tachdjian, Gérard; Aboura, Azzedine; Brisset, Sophie; Dommergues, Marc; Gajdos, Vincent; Labrune, Philippe

    2006-01-01

    CVS is the earliest procedure for cytogenetic analysis but the quality of metaphases obtained does not allow the characterization of subtle chromosomal anomalies. We report the application interphase fluorescence in situ hybridization for the rapid prenatal diagnosis of a subtle structural chromosome anomaly in trophoblast cells. The foetus was karyotyped because of a paternal complex chromosomal anomaly 46,XY,inv(2)(q14.3q35),ins(10;2)(q25;q36.1q36.1). Fluorescence in situ hybridization analyses were performed on interphase nuclei and metaphase chromosomes from uncultured chorionic villi using bacterial artificial chromosomes specific for the 2q chromosomal region. Direct conventional cytogenetics showed an apparently normal male karyotype, whereas fluorescence in situ hybridization analysis showed a deletion of the chromosomal region 2q36.1 and a paracentric inversion of the chromosome 2q leading to a partial monosomy 2q36.1. This strategy allowed us to offer an early and rapid chromosomal analysis for this couple leading to a better management of the pregnancy. This report demonstrates that interphase fluorescence in situ hybridization can be used in direct CVS for a rapid and early prenatal diagnosis of complex chromosomal rearrangements. 2006 S. Karger AG, Basel

  12. Prenatal diagnosis by chorionic villus sampling in multiple pregnancies prior to fetal reduction.

    PubMed

    De Catte, L; Camus, M; Bonduelle, M; Liebaers, I; Foulon, W

    1998-05-01

    Ovulation induction and assisted-reproduction techniques have dramatically increased the incidence of high-risk multiple pregnancies over the past 10 years. Perinatal outcome may be improved by the use of multifetal reduction. The fetus to be reduced used to be selected only on technical grounds. We report on the results of prenatal diagnosis by chorionic villus sampling (CVS) during the first trimester in 32 multifetal pregnancies in which fetal reduction was requested. The mean gestational age at CVS was 10.5 weeks. Chromosomal analyses were available for all sampled fetuses, three of which were chromosomally abnormal. In 24 couples, fetal reduction to twin pregnancies was successfully carried out within 1 week after the CVS. In seven cases, the couples elected not to proceed with fetal reduction after receiving information that the chromosomal analysis was normal in all fetuses. Mean gestational ages at delivery were, respectively, 34.6 and 31.8 weeks in the reduced and the nonreduced groups (p = 0.04). No fetal losses occurred in either group; one neonatal death was observed after a preterm delivery because of preeclampsia in a twin pregnancy. Prenatal cytogenetic diagnosis during the first trimester in multiple pregnancies prior to fetal reduction appears to be feasible, accurate, and safe. Abnormal chromosomal results indicate the fetus(es) to be reduced. The parents' decisions not to proceed with the fetal reduction procedure, where chromosomal results in all the fetuses were normal, were unexpected.

  13. Evaluation of an in-house protocol for prenatal molecular diagnosis of SMA in Chinese.

    PubMed

    Zeng, Jian; Lan, Fenghua; Deng, Xiaojun; Ke, Longfeng; Tu, Xiangdong; Huang, Lianghu; Zheng, Dezhu; Zhu, Zhongyong

    2008-12-01

    Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn of the spinal cord, leading to symmetric muscle weakness and atrophy. About 95% of SMA patients have homozygous loss of SMN1 which can be detected by conventional PCR-RFLP testing. However, the method cannot distinguish heterozygous healthy carriers. A quantitative method named multiple ligation-dependent probe amplification (MLPA) was introduced in our protocol for prenatal molecular diagnosis of SMA in our laboratory. DNA was extracted from amniotic fluid cells of 13 fetuses from 11 Chinese SMA families. STR profiling was carried out to evaluate the contamination of amniotic DNA by maternal genomic DNA. Three methods, PCR-RFLP, allele-specific PCR and MLPA, were used to analyze SMN1 exon 7 of amniotic DNA. There was no contamination of amniotic DNA by maternal genomic DNA. In conventional PCR-RFLP, allele-specific PCR, and MLPA, homozygous loss of SMN1 was observed in 4 fetuses. Among the remaining 9 fetuses, 6 with 1 copy of SMN1 and 3 with 2 copies of SMN1 were showed by MLPA. This in-house protocol was reliable and efficient for prenatal molecular diagnosis of SMA.

  14. A case of major form familial hyperekplexia: prenatal diagnosis and effective treatment with clonazepam.

    PubMed

    Doria Lamba, Laura; Giribaldi, Gaia; De Negri, Emanuela; Follo, Roberta; De Grandis, Elisa; Pintaudi, Maria; Veneselli, Edvige

    2007-06-01

    Hyperekplexia (OMIM 149400) is an uncommon neurologic disorder characterized by exaggerated response to sensitive stimuli. It may be sporadic or familial. The disease is usually caused by mutations in the inhibitory glycine receptor alpha1-subunit. The authors report a male patient who is affected by the major form of familial hyperekplexia. He is currently 5 years old and is being successfully treated with clonazepam. Prenatal diagnosis was made owing to prior identification of point mutation K276E in his affected mother. Early diagnosis avoided complex and prolonged differential diagnostic procedures and allowed for early and effective intervention on severe neonatal symptoms: hypertonia, episodes of cyanosis, apneic spells, and massive myoclonic jerks. During his first year of life, the patient was treated with cycles of phenobarbital and diazepam and achieved partial clinical response. Subsequent therapy with low-dose clonazepam was highly effective in reducing myoclonic jerks and exaggerated startle reaction, and unlike previously used drugs, it was decisive in reducing hypertonia.

  15. Molecular approaches in the prenatal diagnosis and therapy of genetic disorders.

    PubMed

    Myrianthopoulos, N C

    1987-01-01

    During the last decade a new class of DNA markers, the restriction fragment length polymorphisms (RFLPs), has been developed by molecular genetic techniques. Genetic linkage studies using RFLPs have resulted in a large number of chromosome assignments of genes, making possible prenatal diagnosis and presymptomatic testing in many genetic disorders. Even so, of the estimated 100,000 genes that comprise the human genome fewer than 2,000, or 2%, have been mapped. Studies of the molecular basis of some of these mutant genes have brought to light a remarkable multiplicity and diversity of mutations that produce relatively few clinical phenotypes. Many genetic disorders including the thalassemias, familial hypercholesterolemia, Tay-Sachs disease, cystic fibrosis, and congenital adrenal hyperplasia, have been shown to be genetically heterogeneous. It is necessary, therefore, to know the precise mutation in order to make accurate diagnosis and restore proper enzyme or gene function.

  16. Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis.

    PubMed

    Libotte, Francesco; Bizzoco, Domenico; Gabrielli, Ivan; Mesoraca, Alvaro; Cignini, Pietro; Vitale, Salvatore Giovanni; Marilli, Ilaria; Gulino, Ferdinando Antonio; Rapisarda, Agnese Maria Chiara; Giorlandino, Claudio

    2016-12-01

    Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dysmorphism, pigmentary skin anomalies, epilepsy, and a variety of congenital malformations. Prenatally, PKS can be suspected in the presence of ultrasound anomalies: diaphragmatic hernia, rhizomelic micromelia, hydrops fetalis, fetal overweight, ventriculomegaly in the central nervous system, congenital heart defects, or absent visualization of the stomach. In all these cases, a detailed genetic study is required. PKS is diagnosed by prenatal genetic analysis through chorionic villus sampling, genetic amniocentesis, and cordocentesis. We report two cases of PKS with prenatal diagnosis of isochromosome 12p made by cytogenetic studies. The first case is of a 36-year-old pregnant woman who underwent genetic chorionic villus sampling at 13(th) weeks of gestation after 1(st) trimester prenatal ultrasound revealed clinical features of PKS: flat nasal bridge and fetal hydrops. The second case is of a 32-year-old pregnant woman with genetic amniocentesis at 17(th) weeks of gestation that showed mos46,XX[21]/47,XX,+i(12p) associated to PKS. New molecular cytogenetic techniques array comparative genomic hybridization and fluorescence in-situ hybridization in association with conventional karyotype are pivotal innovative tools to search for chromosomic anomalies and for a complete prenatal diagnosis, especially in cases such as PKS where array comparative genomic hybridization analysis alone could not show mosaicism of i(12p). Copyright © 2016. Published by Elsevier B.V.

  17. Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes.

    PubMed

    Chen, Chih-Ping; Huang, Jian-Pei; Chen, Yi-Yung; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Pan, Chen-Wen; Wang, Wayseen

    2013-09-25

    We present prenatal diagnosis of a de novo distal 18p deletion involving 14.06Mb at 18p11.32-p11.21 by aCGH using uncultured amniocytes in a pregnancy with fetal holoprosencephaly and premaxillary agenesis. QF-PCR analysis showed that distal 18p deletion was from maternal origin. Metaphase FISH analysis confirmed haploinsufficiency of TGIF. We discuss the functions of the genes that are deleted within this region. The present case shows the usefulness of applying aCGH on uncultured amniocytes for rapid aneuploidy diagnosis in cases with prenatally detected fetal structural abnormalities.

  18. Prenatal Counseling, Ultrasound Diagnosis, and the Role of Maternal-Fetal Medicine of the Cleft Lip and Palate Patient.

    PubMed

    James, Jeffrey N; Schlieder, Daniel W

    2016-05-01

    A multidisciplinary team is the standard of care and the cornerstone of management of cleft patients. With readily improving advanced diagnostic modalities, early prenatal diagnosis of cleft lip and palate increasingly becomes a topic of importance for both the team caring for and families of cleft patients. Maternal-fetal medicine is a fellowship subspecialty of obstetrics that can offer high-quality care and coordination to the cleft team. Both 3-D and 4-D sonography lead to early prenatal diagnosis of cleft patients; however, differences in training result in variations in its diagnostic accuracy.

  19. 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.

  20. Pulse oximetry screening and prenatal diagnosis play complementary roles in reducing risks in simple transposition of the great arteries.

    PubMed

    Bartos, Marie; Lannering, Katarina; Mellander, Mats

    2015-06-01

    This study quantified the contribution of pulse oximetry screening to an early diagnosis of simple transposition. We also estimated the proportion of neonates with this life-threatening cardiac defect who could benefit from prenatal diagnosis, even when pulse oximetry screening had been implemented. This population-based, retrospective, cohort study of cases born from 2003 to 2013 used data from surgical files, the Swedish Causes of Death Registry and the National Forensic Medicine database. The main outcome measures were early postnatal circulatory instability, pre-operative death, neurological morbidity and risk of discharge before diagnosis. We identified 89 cases, including three diagnosed prenatally. Hospitals using pulse oximetry screening diagnosed all 31 neonates before discharge, including seven as a result of screening, but 10 of 55 infants in the nonscreening hospitals were discharged undiagnosed (p = 0.017). Prenatal diagnosis could have decreased the risk of early circulatory instability, pre-operative death or neurological morbidity in 12 of the 72 infants born in referring hospitals (17%). There was one pre-operative death and no postoperative deaths at a mean follow-up of 4.7 years. Pulse oximetry screening minimised the risk of discharging infants with transposition, but prenatal diagnosis would have been necessary to avoid early circulatory instability in 17% of cases. ©2015 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.