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The clinical application of affected-embryo-based SNP haplotype analysis for patients with de novo pathogenic mutations in PGT-M cycles.

Archives of gynecology and obstetrics - 1 Dec 2024

Wang Jie, Xing Jun, Chen Linjun, Diao Zhenyu, He Linlin, Wang Shanshan, Lin Fei, Zhang Ningyuan

Abstract excerpt

PURPOSE: In preimplantation genetic testing for monogenic/single gene disorders (PGT-M) cycles, direct detection of the pathogenic mutation combined with indirect haplotype analysis are recommended to achieve accurate diagnosis. However, it poses a challenge to conduct haplotype analysis for patients carried de novo pathogenetic mutations or without no identified haplotype in families. Herein, the strategy of...

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PMID: 39470770
DOI: 10.1007/s00404-024-07773-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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