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Article

A comprehensive PGT-M strategy for ADPKD patients with de novo PKD1 mutations using affected embryo or gametes as proband.

Journal of assisted reproduction and genetics - 1 Sept 2021

Wang Yuqian, Zhai Fan, Guan Shuo, Yan Zhiqiang, Zhu Xiaohui, Kuo Ying, Wang Nan, Zhi Xu, Lian Ying, Huang Jin, Jia Jialin, Liu Ping, Li Rong, Qiao Jie, Yan Liying

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease characterized by the development of renal cysts and progression to renal failure. Preimplantation genetic testing-monogenic disease (PGT-M) is an alternative option to obtain healthy babies. However, de novo PKD1 mutation of one of the spouses or the absence of a positive family history poses a serious challenge to...

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Identifiers

PMID: 33939064
DOI: 10.1007/s10815-021-02188-z
PMCID: PMC8490604

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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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