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Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies

Abstract Background Currently, whole exome sequencing has been performed as a helpful complement in the prenatal setting in case of fetal anomalies. However, data on its clinical utility remain limited in practice. Herein, we reported our data of fetal exome sequencing in a cohort of 512 trios to ev...

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Wedi'i Gadw mewn:
Prif Awduron: Pengzhen Jin, Jiawei Hong, Yuqing Xu, Yeqing Qian, Shuning Han, Minyue Dong
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMC 2024-09-01
Cyfres:BMC Pregnancy and Childbirth
Pynciau:
Fetal whole exome sequencing
Fetal anomalies
Recurrent phenotype
Frequent gene
Mynediad Ar-lein:https://doi.org/10.1186/s12884-024-06782-8
Tagiau: Ychwanegu Tag
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