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Prenatal Sonography (prenatal + sonography)
Selected AbstractsX-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findingsPRENATAL DIAGNOSIS, Issue 13 2006Shalini Umranikar Abstract Objective To report our experience of the prenatal diagnosis of X-linked dominant chondrodysplasia punctata (CDPX2) and highlight its variable phenotypic presentation. Methods We report the sonographic features of three female fetuses affected with CDPX2. The ultrasound, radiographic and pathological findings were compared. Results Family 1: Two affected pregnancies, both terminated. Fetus 1: Presented with epiphyseal stippling involving the vertebrae, upper and lower limbs, asymmetric shortening of the long bones and flat facial profile. Fetus 2: Prenatal findings included premature epiphyseal stippling, paravertebral cartilaginous calcific foci, mild shortening of the long bones and flat facies. Mutation analysis of the mother and both fetuses revealed mutation in the emopamil-binding protein (EBP) gene. Family 2: Prenatal sonography showed scattered epiphyseal stippling, minimal vertebral segmentation anomalies, mild asymmetric limb shortening and flat facies. Female infant delivered at 39 weeks of gestation. Biochemical analysis in all three fetuses showed increased levels of serum 8(9)-cholestenol consistent with delta (8), delta (7)-isomerase deficiency and CDPX2. Conclusion Prenatal diagnosis of CDPX2 is difficult because of marked phenotypic variation. Epiphyseal stippling, ectopic paravertebral calcifications, asymmetric shortening of long bones and dysmorphic flattened facies are crucial for prenatal diagnosis. DNA analysis of the CDPX2 gene and biochemical determination of the serum 8(9)-cholestenol level are important for diagnosis, especially if future pregnancies are planned. Copyright © 2006 John Wiley & Sons, Ltd. [source] Indications for fetal echocardiography from a tertiary-care obstetric sonography practiceJOURNAL OF CLINICAL ULTRASOUND, Issue 3 2004Lynn L. Simpson MD Abstract Purpose The present study was conducted to evaluate the indications for fetal echocardiography in a tertiary-care obstetric sonography practice and to determine the incidences of confirmed congenital heart disease for each primary indication. Methods A retrospective analysis of all pregnant women referred to a pediatric cardiology unit for fetal echocardiography by the tertiary-care sonography unit over a 2-year period was performed. The primary indications for referral for fetal echocardiography were obtained from the sonographers' reports. Outcome data were extracted from the fetal echocardiograms, postnatal echocardiograms or pathology and autopsy reports, and patient medical records. Results Of 6,002 pregnant women who had undergone prenatal sonographic examination during the study period, 275 (4.6%) had been subsequently referred for fetal echocardiography. The most common primary indication for referral had been abnormal cardiac findings on the prenatal sonographic examination, which had been present in 64 (23.3%) of the 275 cases. In 44 (69%) of those 64 cases, congenital heart disease had been confirmed. Among the 211 patients who had had normal cardiac findings on prenatal sonography but had been referred for fetal echocardiography owing to other primary indications, congenital heart disease had been confirmed in only 7 cases (3.3%). Conclusions An abnormal cardiac finding during prenatal sonographic examination is a common primary indication for fetal echocardiography and is more useful for identifying congenital heart disease than are other risk factors. Careful routine cardiac screening during routine prenatal sonographic examination may facilitate further investigation and treatment. © 2004 Wiley Periodicals, Inc. J Clin Ultrasound 32:123,128, 2004 [source] Epidemiology of holoprosencephaly: Prevalence and risk factors,AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 1 2010Ięda M. Orioli Abstract The wide variation in cerebral and facial phenotypes and the recognized etiologic heterogeneity of holoprosencephaly (HPE) contribute to the observed inter-study heterogeneity. High lethality during the early stages of embryonic and fetal development makes HPE detection age dependent. By reviewing 21 HPE epidemiologic articles, the observed prevalence rate differences can be largely explained by the pregnancy outcome status of the studied cohort: livebirth, stillbirth, and terminations of pregnancy (TOPs): lower than 1 per 10,000 when live and still births were included, higher when TOPs were included, and between 40 and 50 per 10,000 in two classical Japanese studies on aborted embryos. The increasing secular trend observed in some studies probably resulted from an increasing use of prenatal sonography. Ethnic variations in birth prevalence rates (BPRs) could occur in HPE, but the available data are not very convincing. Higher BPRs were generally observed in the less favored minorities (Blacks, Hispanics, Pakistanis), suggesting a bias caused by a lower prenatal detection rate of HPE, and consequently less TOPs. Severe ear defects, as well as microstomia, were part of the spectrum of HPE. Non-craniofacial anomalies, more frequently associated with HPE than expected, were genital anomalies (24%), postaxial polydactyly (8%), vertebral defects (5%), limb reduction defects (4%), and transposition of great arteries (4%). The variable female predominance, found in different HPE studies, could also depend on the proportion of early conceptions in each study sample, as males are more likely to be lost through spontaneous abortions. © 2010 Wiley-Liss, Inc. [source] Sonographic atypical vascular coiling of the umbilical cordPRENATAL DIAGNOSIS, Issue 1 2005Antonella Cromi Abstract Objective To investigate whether an atypical umbilical coiling pattern at prenatal sonography is associated with adverse pregnancy outcome. Methods A targeted sonographic evaluation of the umbilical cord (UC) was performed in 758 women with singleton gestation, and gestational age above 20 weeks. Atypical coiling was defined as the presence of a spring-shape UC (supercoiling) or an unusual, aperiodic coiling pattern (uncoordinated coiling). Umbilical artery Doppler assessment was conducted in cases with atypical coiling. Pregnancy and neonatal outcomes were investigated. Results Of the study population, 7 and 16 fetuses had an umbilical cord with uncoordinated coiling and supercoiling respectively. Three umbilical cords had a single umbilical artery. Eight patients delivered before 34 weeks of gestation. Eight fetuses were growth restricted. In seven cases, abnormal sonographic findings were detected (three meconium peritonitis, two severe hydronephrosis and two cardiac anomalies). One fetus affected by trisomy 18 presented multiple anomalies. Perinatal death occurred in three cases. Of the surviving newborns, eight were admitted to NICU. Umbilical artery Doppler waveforms presented a systolic notch in seven (30.4%) cases. Conclusions The presence of an atypical umbilical cord vascular coiling is associated with an increased risk of unfavourable pregnancy outcome. The identification of an umbilical artery notch at Doppler investigation is frequently associated with an atypical UC coiling pattern. Copyright © 2005 John Wiley & Sons, Ltd. [source] Complementary roles of prenatal sonography and magnetic resonance imaging in diagnosis of fetal renal anomaliesAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 3 2010Ibrahim A. ABDELAZIM Objectives:, This study was designed to assess the role of magnetic resonance imaging (MRI) in refining the diagnosis of prenatally suspected fetal renal abnormalities following screening ultrasound. Patients and methods:, Twenty pregnant women, with suspected fetal renal abnormality detected during screening ultrasound and more than 14 weeks' gestation, were included in this observational prospective study at Ain Shams University Maternity Hospital from March 2004 to March 2005 after informed consent and after approval of the study protocol by the institute ethics committee. Results:, The MRI could diagnose correctly 10 cases of hydronephrosis, one case of polycystic kidney disease (PCKD), one case of RA, two normal case and two cases of intra-abdominal masses (IA Mass) (16 of 18 cases). The prenatal ultrasound could diagnose correctly eight cases of hydronephrosis, one case of PCKD, one case of renal agenesis, one case of multicystic kidney disease and one case of IA Mass (12 of 18 cases). The prenatal ultrasound and MRI gave different diagnoses in eight cases and gave the same diagnosis in 12 cases. The MRI could diagnose the aetiology of congenital renal cysts in 10 of the 20 studied cases (50%). Conclusion:, Magnetic resonance imaging can be used as a complementary tool in the assessment of sonographically suspected fetal renal anomalies. [source] | |||||||||||||