At the recent ESHRE meeting in London the ASPIRE Reproductive Genetics SIG highlighted the growing need to expand PGT beyond chromosome copy-number analysis by integrating genotype analysis into routine embryo testing.
Genotype-integrated PGT can:
- detect clinically important abnormalities that conventional PGT may miss including triploidy and genome-wide uniparental disomy (gwUPD) and prevent sample/embryo mismatch; and
- provide more comprehensive embryo genetic evaluation within a single workflow by a genotyping-integrated PGT platform (PGT-Plus)
Clinical implications
Integrating genotype analysis with conventional PGT has the potential to broaden embryo genetic screening, improve embryo selection and identify the parental origin of triploidy. This can provide a better understanding of the complications and risk for maternal gestational trophoblastic disease.
A recent study from the Chinese University of Hong Kong demonstrated the clinical feasibility of PGT-Plus. Outcomes included:
- improved diagnostic yield: PGT-Plus identified an additional 2.2 per cent of genetic abnormalities compared with conventional PGT; and
- explaining implantation failure. Among embryos previously classified as "euploid" by standard testing, but resulting in failed implantation, more than 3 per cent were subsequently found to harbor triploidy (0.8 per cent) or gwUPD (1.4 per cent).
(https://academic.oup.com/hropen/article/2026/3/hoag044/8687831)
