Some of these tests are screening tests, and some are diagnostic tests. For many years there were only diagnostic tests available to detect chromosomal abnormalities- amniocentesis (“amnio”) and chorionic villus sampling (CVS). Notably, more accurate technology called cell-free DNA screening, also referred to as non-invasive prenatal screening (NIPS), was developed that could detect pieces of placental/fetal DNA in the maternal serum from a simple blood draw. Even though screening and testing are not synonymous, the terms were conflated throughout the NYTimes article and the podcast. Another clinical prenatal genetic counselor, Carly Bennett, points out that improvements in NIPS have led to an overall decrease in invasive, diagnostic testing.

Source: New York Times January 06, 2022 20:29 UTC