Next-generation sequence-based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism.

doi:10.1002/mgg3.1662

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Article

Next-generation sequence-based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism.

Molecular genetics & genomic medicine - 1 May 2021

Hu Xiao, He Wen-Bin, Zhang Shuo-Ping, Luo Ke-Li, Gong Fei, Dai Jing, Zhang Yi, Wan Zhen-Xing, Li Wen, Yuan Shi-Min, Tan Yue-Qiu, Lu Guang-Xiu, Lin Ge, Du Juan

Abstract excerpt

BACKGROUND: Mosaicism poses challenges for genetic counseling and preimplantation genetic testing for monogenic disorders (PGT-M). NGS-based PGT-M has been extensively used to prevent the transmission of monogenic defects, but it has not been evaluated in the application of PGT-M resulting from mosaicism. METHODS: Four women suspected of mosaicism were confirmed by ultra-deep sequencing. Blastocyst trophectoderm...

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Identifiers

PMID: 33942572
DOI: 10.1002/mgg3.1662
PMCID: PMC8172198

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.