Diagnostic yield of exome sequencing in isolated fetal growth restriction: Systematic review and meta‐analysis
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DOI: 10.1002/pd.6339
Abstract: The aim of this study was to determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CMA) or karyotyping in fetuses with isolated fetal growth restriction (FGR). This was a… read more here.
Keywords: yield exome; diagnostic yield; exome sequencing; yield ... See more keywords
Diagnostic Yield of Exome Sequencing in Fetuses with Sonographic Features of Skeletal Dysplasias but Normal Karyotype or Chromosomal Microarray Analysis: A Systematic Review
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.37766/inplasy2023.5.0048
Abstract: Skeletal dysplasias are a group of diseases characterized by bone and joint abnormalities, which can be detected during prenatal ultrasound. Next-generation sequencing has rapidly revolutionized molecular diagnostic approaches in fetuses with structural anomalies. This review… read more here.
Keywords: yield exome; skeletal dysplasias; diagnostic yield; sonographic features ... See more keywords