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

ABSTRACT:

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 cells and polar bodies were collected for whole genome amplification, followed by pathogenic variants detection and haplotype analysis based on NGS. The embryos free of the monogenic disorders were transplantable.

Results

Ultra-deep sequencing confirmed that the four women harbored somatic mosaic variants, with the proportion of variant cells at 1.12%, 9.0%, 27.

SUBMITTER: Hu X 

PROVIDER: S-EPMC8172198 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature