Preimplantation genetic testing for aneuploidy: challenges in clinical practice

Abstract

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.

Increased blastomere number in D3 embryos is associated with higher live birth rates in vitrified– thawed single blastocyst transfer cycles

“…Currently, time-lapse embryo imaging[16], preimplantation genetic testing [17], and culture media analysis [18] have been used to evaluate embryo quality.…”

The Assessment of Methods for Preimplantation Genetic Testing for Aneuploidies Using a Universal Parameter: Implications for Costs and Mosaicism Detection

“…We suggest that the median noise parameter introduced in this study could also serve as a common quantitative indicator of practices in fertility centers. Since success rates in different centers widely differ 41,42 , this robust parameter can be instrumental for improving the practices either via selfregulation or with involvement of a government agency 51 .…”

Preimplantation genetic testing: A remarkable history of pioneering, technical challenges, innovations, and ethical considerations

“…PGT emerged after these early studies pointed the way forward. Many excellent reviews in recent years provide laudable summaries of the status of the PGT field (e.g., Greco et al, 2020; Kuliev & Rechitsky, 2017; Lee et al, 2023; De Rycke & Berckmoes, 2020; Takeuchi, 2021; Yang et al, 2022), and provide to the reader descriptions of an impressive and ever‐expanding array of methods for sampling, methods for genetic analysis, and types of genetic alterations that can be discerned.…”