On the reproductive capabilities of aneuploid human preimplantation embryos

In IVF cycles, the application of aneuploidy testing at the blastocyst stage is quickly growing, and the latest reports estimate almost half of cycles in the US undergo preimplantation genetic testing for aneuploidies (PGT-A). Following PGT-A cycles, understanding the pre-dictive value of an aneuploidy result is paramount for making informed decisions about the embryo's fate and utilization. Compelling evidence from non-selection trials strongly supports that embryos diagnosed with a uniform whole-chromosome aneuploidy very rarely result in the live birth of a healthy baby, while their transfer exposes women to significant risks of miscarriage and chromosomally abnormal pregnancy. On the other hand, embryos displaying low range mosaicism for whole chromosomes have shown reproductive capabilities somewhat equivalent to uniformly euploid embryos, and they have comparable clinical outcomes and gestational risks. Therefore, given their clearly distinct biological origin and clinical consequences, careful differentiation between uniform and mosaic aneuploidy is critical in both the clinical setting when counseling individuals and in the research setting when presenting aneuploidy studies in human embryology. Here, we focus on the evidence gathered so far on PGT-A diagnostic predictive values and reproductive outcomes observed across the broad spectrum of whole-chromosome aneuploidies detected at the blastocyst stage to obtain evidence -based conclusions on the clinical management of aneuploid embryos in the quickly growing PGT-A clinical setting.

Automated summary

The use of aneuploidy testing in IVF cycles is increasing, with almost half of cycles in the US undergoing PGT-A. Evidence shows that embryos diagnosed with uniform whole-chromosome aneuploidy rarely result in live births, while embryos with low-level mosaicism for whole chromosomes have reproductive capabilities similar to euploid embryos. Differentiating between uniform and mosaic aneuploidy is crucial in clinical and research settings for proper management of aneuploid embryos.