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

Abstract

Preimplantation genetic testing (PGT) has emerged as a powerful companion to assisted reproduction technologies. The origins and history of PGT are reviewed here, along with descriptions of advances in molecular assays and sampling methods, their capabilities, and their applications in preventing genetic diseases and enhancing pregnancy outcomes. Additionally, the potential for increasing accuracy and genome coverage is considered, as well as some of the emerging ethical and legislative considerations related to the expanding capabilities of PGT.

Keywords: embryo; oocyte; preimplantation genetic screening; preimplantation genetic testing.