Preimplantation genetic testing for aneuploidy: challenges in clinical practice

Springer Science and Business Media LLC - Tập 16 - Trang 1-5 - 2022
Hui Yang1, Andrew Thomas DeWan1,2, Mayur M. Desai1,3, Sten H. Vermund2,3,4
1Yale School of Public Health, Advanced Professional MPH Program, New Haven, USA
2Yale Center for Perinatal, Pediatric and Environmental Epidemiology, Chronic Disease Epidemiology, Yale School of Public Health, New Haven, USA
3Yale School of Public Health, New Haven, USA
4Department of Pediatrics, Yale School of Medicine, New Haven, USA

Tóm tắt

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.

Tài liệu tham khảo

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