Prenatal ultrasound
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Exome sequencing is now being incorporated into clinical care for pediatric and adult populations, but its integration into prenatal diagnosis has been more limited. One reason for this is the paucity of information about the clinical utility of exome sequencing in the prenatal setting.
14p vibransone 28-03-2024 5 2 Download
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Spontaneous perirenal hemorrhage (Wunderlich syndrome) in the fetus is a rare urinary system disease. Prenatal ultrasound diagnosis presents challenges due to the lack of specific clinical features.
4p vitiki 30-01-2024 3 2 Download
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Part 1 book "Anderson's pediatric cardiology" includes content: Terminology; anatomy; embryology of the heart; etiology of congenital cardiac disease; myocardium and development, physiology of the developing heart; magnetic resonance assessment of the fetal circulation in congenital heart disease; imaging and quantifying the fetal circulation in congenital cardiac disease ultrasound; pharmacologic intervention in the fetus; percutaneous intervention in the fetus, including postnatal management; the placenta in congenital heart disease; optimizing prenatal support of the mother and family.
2029p oursky03 28-08-2023 7 1 Download
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Neonatal abdominal ultrasound is usually performed in Nigeria to investigate neonatal symptoms rather than as a follow up to evaluate fetal abnormalities which were detected on prenatal ultrasound. The role of routine obstetric ultrasonography in the monitoring of pregnancy and identification of fetal malformations has partly contributed to lowering of fetal mortality rates.
7p virubber2711 21-03-2020 12 1 Download
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Prune belly syndrome is a rare congenital malformation of unknown aetiology and is characterised by abnormalities of the urinary tract, a deficiency of abdominal musculature and bilateral cryptorchidism in males.
6p vivalanbo2711 19-03-2020 16 2 Download
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Previous studies on the mortality rate of omphalocele are limited. The risk of death of non-isolated omphalocele and that of cases of omphalocele that are diagnosed prenatally by ultrasound are unclear. This study aimed to estimate the perinatal mortality of pregnancies with omphalocele.
7p vichengshin2711 29-02-2020 15 0 Download
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Double gallbladder is a rare biliary anomaly. Perinatal diagnosis of the disorder has been reported in only 6 cases, and in 5 of them the diagnosis was based on ultrasound imaging only.
4p vidr2711 19-02-2020 16 1 Download
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X-linked recessive chondrodysplasia punctate (CDPX1) is a rare congenital disorder of bone and cartilage development, caused by a mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. Although most of the affected men had mild symptoms, some had more severe symptoms, and had a poor prognosis.
6p virome2711 13-01-2020 11 0 Download
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Congenital megalourethra is a rare prenatal finding while prenatal diagnosis of imperforate anus poses high challenge. This is the first prenatally ultrasound diagnosed case which had congenital megalourethra and imperforate anus.
4p virome2711 13-01-2020 13 0 Download
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Prenatal diagnosis, traditionally used as a synonymous for invasive fetal testing and evaluation of chromosomal constellation, presently encompasses many other issues like pedigree analyses, fetal risk assessment, population screening, genetic counseling and fetal diagnostic testing as well. Ultrasound guided chorionic villus samling (CVS), amniocentesis and, to a lesser extent, fetal blood sampling are used routinely in fetal medicine units. Other fetal tissue biopsies such as skin, liver and muscle biopsy are used only rarely.
219p xunu1311 02-11-2012 60 4 Download