Cell-Free DNA-Based Noninvasive Prenatal Testing and Society

Discussions on ethical and social issues have accompanied the emergence of prenatal testing and screening since the 1970s. While genetic testing originally allowed families with severe congenital disorders to make reproductive decisions, Down syndrome screening became the focal point of public discussion after testing became available for all pregnant women. In many countries prenatal screening policies developed including procedures enabling informed decision-making and clarifying the aim of prenatal screening to allow for reproductive options. Cell-free (cf) DNA based noninvasive prenatal testing (NIPT) has been heralded to solve problems of inaccurate screening tests for aneuploidies and unnecessary invasive diagnostic testing, thereby reducing procedure-related miscarriages. Precisely these advantages caused concern about further routinization, expecting women to opt for screening by default. The rapid introduction of cfDNA NIPT, its widening scope beyond aneuploidies, and strong commercial interests challenge existing policies and call for intensified debate on how to organize responsible services in private practice and public health care systems.