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Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases

25 Oct 2023

Abstract excerpt

BACKGROUND: Whole-exome sequencing (WES) significantly improves the diagnosis of the etiology of fetal structural anomalies. This study aims to evaluate the diagnostic value of prenatal WES and to investigate the pathogenic variants in structurally abnormal fetuses. METHODS: We recruited 144 fetuses with structural anomalies between 14 and 2020 and 15 December 2021 in the study. Genetic screening was performed by...

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Genomics and Rare Diseases
Neurogenetic and Muscular Disorders Research
Prenatal Screening and Diagnostics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37880672
DOI: 10.1186/s12920-023-01697-3

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