How Sensitive Is niPGT-A Regarding Segmental Deletions/Duplications, and Mosaicism?

Interestingly. niPGT might not need to be regarded as a one-to-one substitute of ТЕ biopsy-based PGT-A. It might serve as a low-resolution screening tool for laboratories that choose not to perform ТЕ biopsy, or it can be done in parallel with the ТЕ analysis. One study shows that concordant euploidy in paired SM-TE samples predicts better likelihood of implantation for an embryo than when its ТЕ biopsy is euploid but its SM shows aneuploidy (52.9% vs. 16.7%, respectively) [175]. Recently a new kit specifically for niPGT-A has been released by Perkin Elmer, and we await large studies in its sensitivity.

Owing to the uncertainty and confusion generated by the detection and reporting in the absence of clinical data, some might argue that looking at the content of SM may be a better evaluation of the embryo than an individual trophectoderm biopsy. This is a rapidly evolving field and, if successful, will revolutionize the PGT-A landscape.

Morphokinetics and Time-Lapse for Aneuploidy Detection

Another avenue being explored to evaluate embryos in a noninvasive way is the continuous monitoring via time-lapse imaging technology during culture. Some studies have indicated that embryos exhibit different kinetic behavior in cell division patterns according to their ploidy [178-181]. Other reports have refuted that claim [182-184]. Another set of studies has explored the correlation between morphokinetic patterns and implantation potential, rather than strict ploidy state, with promising results [185,186].

Time-lapse monitoring must not necessarily need to replace PGT-A altogether but might instead offer an added benefit, as the two technologies can be performed in parallel. For instance, morphokinetic patterns might help rank embryos classified by PGT-A as euploid with highest chance of implantation and decreased chance of miscarriage, as has recently been attempted with some success [84,187]. Future work will need to address this point.

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