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Article

Trio-whole-exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformations.

Human mutation - 1 Feb 2020

Guo Wei, Lai Yuchen, Yan Zhiqiang, Wang Yuqian, Nie Yanli, Guan Shuo, Kuo Ying, Zhang Wenxin, Zhu Xiaohui, Peng Mei, Zhi Xu, Wei Yuan, Yan Liying, Qiao Jie

Abstract excerpt

Whole-exome sequencing (WES) is widely used to detect genetic mutations that cause Mendelian diseases, and has been successfully applied in combination with preimplantation genetic diagnosis (PGD) to avoid the transmission of genetic defects. We investigated 40 nonconsanguineous families with unexplained, recurrent fetal malformations (two or more malformed fetuses) from May 2016 to December 2018. Using Trio-WES,...

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PMID: 31680349
DOI: 10.1002/humu.23935

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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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