Abstract

Errors during meiosis and fertilization can result in embryos gaining or losing an entire set of chromosomes and lead to blastocysts with abnormal ploidy (e.g. 23,X or 69,XXX) undetected by NGS PGT platforms. NGS misdiagnosis as euploid occurs when no additional aneuploidies or Y chromosomes are present (e.g. 69,XXX), leading to a false negative result. Additionally, false positive mosaicism diagnosis can occur when an embryo of abnormal ploidy contains additional aneuploidies (e.g., 68,XXX,-8).

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