A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis
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DOI: 10.1002/jcla.22445
Abstract: To offer 4‐year clinical prenatal diagnosis experience of Duchenne muscular dystrophy (DMD). read more here.
Keywords: prenatal diagnosis; analysis; muscular dystrophy; duchenne muscular ... See more keywords
Development and validation of a haplotype‐free technique for non‐invasive prenatal diagnosis of spinal muscular atrophy
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DOI: 10.1002/jcla.23046
Abstract: To develop a technique for non‐invasive prenatal diagnosis of spinal muscular atrophy and validate its performance. read more here.
Keywords: diagnosis spinal; invasive prenatal; spinal muscular; prenatal diagnosis ... See more keywords
Early sonographic manifestation of fetal congenital lobar emphysema
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DOI: 10.1002/jcu.22674
Abstract: Advanced fetal sonographic equipment has contributed to the increase in prenatal diagnosis of congenital thoracic malformations. Among these anomalies is congenital lobar emphysema (CLE), a rare congenital anomaly characterized by over distention and overexpansion of… read more here.
Keywords: sonographic manifestation; congenital lobar; early sonographic; prenatal diagnosis ... See more keywords
Prenatal diagnosis of isolated frontonasal dysplasia: A case report
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DOI: 10.1002/jcu.22861
Abstract: We report a case of mild frontonasal dysplasia, a complex and rare malformation affecting the central portion of the face, especially the eyes, nose, and forehead, which was diagnosed at 20 weeks of gestation. The diagnosis… read more here.
Keywords: frontonasal dysplasia; case; prenatal diagnosis; report ... See more keywords
Lack of consensus among healthcare professionals at a large academic medical center on the use of exome sequencing for prenatal diagnosis
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1607
Abstract: Prenatal exome sequencing (ES) is increasingly used for prenatal diagnosis because emerging data indicate it has incremental diagnostic benefit in pregnancies with fetal anomalies without identified genetic abnormalities by karyotyping and chromosomal microarray analysis. The… read more here.
Keywords: sequencing prenatal; exome sequencing; use exome; prenatal diagnosis ... See more keywords
Prenatal Diagnosis of a Urinoma and Dilated Azygous Vein
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DOI: 10.1002/jum.14425
Abstract: Prenatal dilatation of the azygos vein is a marker for disruption of the embryologic formation of the cardiovascular system. We present a case of a dilated azygos vein due to obstruction of the inferior vena… read more here.
Keywords: vein; figure; azygos vein; prenatal diagnosis ... See more keywords
Prenatal diagnosis of a rare β‐thalassemia gene －90 (C>T) (HBB: c.‐140 C>T) mutation associated with deletional Hb H disease (‐‐SEA/‐α 4.2)
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1472
Abstract: Hemoglobin H (Hb H) disease can be caused by compound heterozygosity for two different mutations or from homozygotes for mutations, and conventional genetic methods may lead to misdiagnosis when Hb H disease is combined with… read more here.
Keywords: rare thalassemia; diagnosis rare; thalassemia gene; disease ... See more keywords
Noninvasive prenatal diagnosis based on cell-free DNA for tuberous sclerosis: A pilot study.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1952
Abstract: BACKGROUND Noninvasive prenatal diagnosis (NIPD) based on cell-free DNA (cfDNA) has been introduced into the clinical application for some monogenic disorders but not for tuberous sclerosis (TSC) yet, which is an autosomal dominant disease caused… read more here.
Keywords: dna; cell free; prenatal diagnosis; based cell ... See more keywords
Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders – genetic counseling and pregnancy outcome in 57 cases
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DOI: 10.1002/pd.4979
Abstract: Whole genome array testing not only provides an increased diagnostic yield of pathogenic causative findings, but it may also reveal so called susceptibility loci (SL) for neurodevelopmental disorders. The goal of this study was to… read more here.
Keywords: pregnancy; prenatal diagnosis; susceptibility loci; loci neurodevelopmental ... See more keywords
Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy
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DOI: 10.1002/pd.5019
Abstract: 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… read more here.
Keywords: prenatal diagnosis; muscular dystrophy; duchenne muscular; diagnosis ... See more keywords
Prenatal diagnosis and prognosis of isolated subependymal cysts: A retrospective cohort study
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DOI: 10.1002/pd.5177
Abstract: The objective of this study was to investigate the significance of prenatal diagnosis of subependymal cysts (SEC). Diagnoses were made by brain ultrasonography (bUS) and confirmed by fetal brain magnetic resonance imaging (MRI). read more here.
Keywords: subependymal cysts; diagnosis; prognosis isolated; study ... See more keywords