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Article

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

BMC pregnancy and childbirth - 9 Sept 2024

Jin Pengzhen, Hong Jiawei, Xu Yuqing, Qian Yeqing, Han Shuning, Dong Minyue

Abstract excerpt

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 evaluate its diagnostic yield. METHODS: In this retrospective cohort study, the couples performing prenatal exome sequencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39251974
DOI: 10.1186/s12884-024-06782-8
PMCID: PMC11385820

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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