Abstract

Preimplantation genetic testing for aneuploidy (PGT-A) was developed to prevent transferring embryos with chromosomal abnormalities. However, current genetic testing is sensitive enough to detect mosaic abnormalities, or non-uniform chromosomal copy number differences within a subset of trophectoderm cells. An absolute threshold for clinically significant mosaicism remains poorly defined and clinics differ in their management of mosaic embryo results. Here we share our efforts to uncover clinically relevant features of mosaicism via in depth analysis of a multinational database.

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