Case report: re-biopsy rescues a to-be-discarded segmental aneuploid embryo resulting in a healthy pregnancy with normal prenatal testing results.

Abstract

This case report describes the strategy for reclassifying embryos initially diagnosed as segmental aneuploid through preimplantation genetic testing for aneuploidy (PGT-A), potentially rescuing those embryos for clinical use. A couple undergoing IVF, facing a lack of viable embryos, opted to re-biopsy a previously tested uniform (non-mosaic) segmental aneuploid embryo. The repeat PGT-A analysis produced a euploid result. Following thorough consultation with a genetic counselor and the treating physician, and after signing an informed consent detailing the associated risks, the couple proceeded with the embryo transfer. The pregnancy was confirmed, and prenatal testing by amniocentesis produced euploid results. This case highlights the potential of re-biopsy to more accurately assess embryos initially diagnosed as segmental aneuploid, helping to avoid the unnecessary discard of viable embryos while minimizing the clinical risks associated with constitutive segmental aneuploidies.