Births from aneuploid embryos: where is the evidence?

Background Preimplantation genetic testing for aneuploidy (PGT-A) is used principally to identify embryos with whole chromosome aneuploidy, which are generally considered non-viable. Reports of healthy live births following transfer of embryos classified as fully aneuploid are therefore extraordinary and require rigorous verification. Methods This commentary evaluates how claims of live births from embryos diagnosed as fully aneuploid by PGT-A are generated, interpreted and reported. We examine prevailing evidentiary standards and highlight key sources of potential error, including lack of genetic identity confirmation, natural conception, laboratory or clerical error and misclassification of mosaic or segmental aneuploid embryos. Results To date, no published report has included DNA-based confirmation demonstrating that a healthy child originated from an embryo diagnosed as fully aneuploid. Failure to clearly distinguish whole chromosome aneuploidy from mosaic or segmental aneuploidy, which retain the potential to result in live birth, further complicates interpretation and risks overstating the implications of such reports. Conclusion In the absence of genetic identity confirmation, claims of live births from embryos classified as fully aneuploid cannot be considered evidentiary. As interest in this topic grows, rigorous genetic validation and standardised reporting should be required to ensure scientific credibility, support accurate patient counseling and guide responsible interpretation of these reports.