Chapter 14 - Prenatal testing in low-risk populations: After routinization

Abstract

In 2011 cell-free fetal DNA (cffDNA or cfDNA) screening for fetal aneuploidy became clinically available in the United States. At first recommended only for high-risk obstetric populations, cell-free DNA was made available to the general (low-risk) obstetric population in 2015. The possibility of extending this screening test to the general population generated an extensive literature about the ethics of routinizing cell-free DNA screening. Here we offer an analysis of two professional organizations’ decisions to extend the test to low-risk populations and review several challenges related to cell-free DNA’s uncritical use in prenatal care. In light of the recent FDA warning (2022) about cell-free DNA screening tests, as well as the increasing number of genetic conditions offered by commercial laboratories, we ask what can be learned from the history of its routinization and what steps can be taken to implement measures that mitigate attendant ethical issues.