What question did this study set out to answer?

To assess the misdiagnosis rates of different types of aneuploidies, particularly segmental aneuploidies, in preimplantation genetic testing.

April 10, 2026Archives of Gynecology and Obstetrics0 citationsOpen Access

Misdiagnosis of different types of aneuploidy in preimplantation genetic testing (PGT): a systematic review and meta-analysis

WJWeiqun Jiang ZHZhe Hu YHYouzhen Han

Key Points

To assess the misdiagnosis rates of different types of aneuploidies, particularly segmental aneuploidies, in preimplantation genetic testing.
Conducted a systematic review and meta-analysis of existing studies on PGT-A.
Analyzed data on misdiagnosis rates associated with segmental aneuploidies versus other types.
Evaluated the implications of trophectoderm biopsy results.
Embryos with segmental aneuploidies show a significantly higher risk of being misdiagnosed.
Caution is recommended when interpreting results from trophectoderm biopsy for segmental aneuploidies.
Misinterpretations can lead to the discard of potentially viable embryos.

Abstract

The results indicate that embryos with segmental aneuploidies have a significantly higher risk of misdiagnosis, especially in the PGT-A population. This highlights the need for caution when interpreting trophectoderm (TE) biopsy results involving segmental aneuploidies, to avoid misdiagnosis and the inadvertent discard of potentially viable embryos.

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