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Article

Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield.

Prenatal diagnosis - 1 Oct 2021

Zhang Xinyue, Ren Yuan, Song Rui, Wang Longxia, Xu Hong, Xie Xiaoxiao, Zhou Honghui, Sun Pei, Zhang Manli, Zhao Qingdong, You Yanqin, Gao Zhiying, Meng Yuanguang, Lu Yanping

Abstract excerpt

OBJECTIVE: To investigate the genetic etiology of skeletal dysplasia in highly selected fetuses during the first and second trimesters using deep phenotyping and exome sequencing (ES). METHOD: Fetuses with short femurs were identified using the established prenatal diagnostic approach. A multidisciplinary team reviewed fetal phenotypic information (prenatal ultrasound findings, fetal postmortem, and radiographs)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34091931
DOI: 10.1002/pd.5974

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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