Optimizing use of existing prenatal genetic tests: Screening and diagnostic testing for aneuploidy

Abstract

Screening and diagnostic testing for detection of fetal aneuploidy has been an integral part of prenatal care for over three decades. The recent introduction of new technologies, such as cell free DNA (cfDNA) screening and preimplantation genetic screening, has created increased complexity for obstetrical care providers. Inconsistencies among the professional society recommendations have caused confusion and disparities in practice. As we work to responsibly incorporate new technologies, clear guidelines with consensus among relevant professional societies are needed. In January of 2017, a workshop was convened during the Society for Maternal-Fetal Medicine Pregnancy Meeting. Representatives from many stakeholder groups were present with the goal to develop a framework for introduction of new genetic tests into clinical practice. This paper provides consensus recommendations from this workshop on the use of existing prenatal screening and diagnostic testing for aneuploidy.