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

ABSTRACT:

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 WES combined with karyotyping and chromosomal microarray analysis. The molecular diagnostic yield of prenatal WES for each type of fetal structural anomaly and the identified pathogenic genes and mutations were reported.

Results

In this study, we retrospectively analyzed the clinical and genetic data of 145 structurally anomalous fetuses. These cases were class

SUBMITTER: Qin Y 

PROVIDER: S-EPMC10601195 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature