Preimplantation genetic testing for aneuploidy: challenges in clinical practice

Preimplantation genetic testing for aneuploidy (PGT-A) has been used widely during in vitro fertilization procedures in assisted reproductive centers throughout the world. Despite its wide use, concerns arise from the use of PGT-A technology in clinical decision-making. We address knowledge gaps in PGT-A, summarizing major challenges and current professional guidelines. First, PGT-A is a screening test and not a diagnostic test. Second, mosaicism is much higher in the blastocyst stage from PGT-A than had been recognized previously and a mosaic embryo may not accurately represent the genetic disease risk for future fetal disorders. Third, PGT-A was not validated clinically before use in patients; the best use of this technology for selected age-groups remains uncertain. Given these gaps, we believe that current professional policies relying on industry-self-regulation are insufficient. In the USA, the Food and Drug Administration may be the most appropriate agency to provide more definitive guidelines and regulations that are needed for better practice.

Automated summary

Preimplantation genetic testing for aneuploidy is widely used in IVF procedures worldwide, but there are concerns about its use in clinical decision-making. Challenges include the test being a screening rather than diagnostic tool, high rates of mosaicism in blastocysts, and lack of clinical validation before use in patients. Current professional policies relying on industry self-regulation are deemed insufficient, and more definitive guidelines and regulations are needed.