Published online by Cambridge University Press: 26 April 2023
Chromosomal aneuploidies mainly affect blastocysts produced from advanced maternal age women (≥35yr). Nevertheless, also in younger patients the aneuploidy rate is ~30%. If one of the partners is carrier of a structural rearrangement, the risk of producing aneuploid gametes is high, independently of woman age. Moreover, ~2% of the couples are carrier of an inheritable monogenic disease. To circumvent the risk of transferring affected and/or chromosomally-abnormal embryos, pre-implantation genetic testing has been introduced in IVF. Throughout the last 30 years, three biopsy approaches have been implemented: blastomere biopsy at the cleavage stage, polar body biopsy from oocytes/zygotes, and trophectoderm biopsy from the blastocyst. The latter is the current gold standard. Here we describe the three approaches along with tips and troubleshooting inherent to trophectoderm biopsy, to correctly perform it, optimize its outcomes, and cope with peculiar situations.
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