Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward

Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward

ObjectiveTo assess the detection rate of exome sequencing (ES) in fetuses diagnosed as skeletal abnormalities (SKA) with normal karyotype or chromosomal microarray analysis (CMA) results.MethodsWe conducted electronic searches in four databases, focusing on studies involving ES in fetuses with SKA....

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Bibliographic Details
Main Authors: Mengting Jiang, Bin Zhang, Jing Wang, Cui Wei, Xiuzhen Mao, Bin Yu
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Genetics
Subjects:
exome sequencing
skeletal abnormalities
prenatal diagnosis
karyotyping
chromosomal microarray analysis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1502538/full
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