Expanding Use of cfDNA Screening in Pregnancy: Current and Emerging Ethical, Legal, and Social Issues

In 2011, screening platforms became available in the US that detect and analyze fragments of cell-free placental DNA (cfDNA) in maternal blood serum. Marketed as noninvasive prenatal tests (NIPT), cfDNA screening is more accurate than previously available serum screening tests for certain aneuploidies. The combination of a noninvasive procedure, high specificity and sensitivity, and lower false positive rates for some aneuploidies (most notably Down's syndrome) has led to broad clinician and patient adoption. New ethical, legal, and social issues arise from the increased use and expanded implementation of cfDNA in pregnancy.

Recently, several professional associations have amended their guidelines on cfDNA, removing language recommending its use in only "high-risk" pregnancies in favor of making cfDNA screening an available option for women with "low-risk" pregnancies as well. At the same time, commercial cfDNA screening laboratories continue to expand the range of available test panels. As a result, the future of prenatal screening will likely include a broader range of genetic tests in a wider range of patients.

This article addresses the ethical, legal, and social issues related to the shift in guidance and expanded use of cfDNA in pregnant women, including concerns regarding routinized testing, an unmet and increasing demand for genetic counseling services, social and economic disparities in access, impact on groups living with disabling conditions, and provider liability.