Viotti Manuel, Margulis Ketty, Victor Andrea R, Murphy Alex E, Barnes Frank L, Zouves Christo G
Zouves Foundation for Reproductive Medicine, Foster City, CA, USA.
Kindlabs, Kindbody, New York, NY, USA.
J Assist Reprod Genet. 2025 May 7. doi: 10.1007/s10815-025-03494-6.
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.
本病例报告描述了通过植入前非整倍体基因检测（PGT-A）对最初诊断为节段性非整倍体的胚胎进行重新分类的策略，这有可能挽救这些胚胎以供临床使用。一对接受体外受精的夫妇面临着缺乏可存活胚胎的问题，他们选择对之前检测为一致（非嵌合）节段性非整倍体的胚胎进行再次活检。重复的PGT-A分析产生了整倍体结果。在与遗传咨询师和主治医生进行充分咨询，并签署了一份详细说明相关风险的知情同意书后，这对夫妇进行了胚胎移植。妊娠得到确认，羊水穿刺产前检测结果为整倍体。本病例强调了再次活检在更准确评估最初诊断为节段性非整倍体的胚胎方面的潜力，有助于避免不必要地丢弃可存活胚胎，同时将与组成性节段性非整倍体相关的临床风险降至最低。
