New ACOG Guidelines Recommend cfDNA-Based NIPT for All Pregnancies, Not Just Risky Ones

The American College of Obstetricians and Gynecologists (ACOG) has revised its position on noninvasive prenatal testing (NIPT) and is now recommending prenatal aneuploidy screening for all pregnant patients regardless of age or other risk factors. ACOG previously recommended use of screening only in individuals 35 and older or with other known risk factors. The Diagnostic Challenge NIPT analyzes the free-floating cell-free DNA (cfDNA) fragments from the blood of a pregnant woman to estimate the risk that the fetus will be born with certain genetic abnormalities, the most common target being chromosomal disorders like Down syndrome that are caused by the presence of an extra or missing copy (aneuploidy) of a chromosome. Because the only blood drawn comes from the pregnant woman, the test poses no risk to the fetus. Concerns about its predictive value has chilled utilization of NIPT for average-risk pregnancies. NPIT is used as a screening test estimating whether risks of certain genetic conditions are increased or decreased and cannot provide a definitive answer about whether a fetus actually has the condition, creating the need for confirmatory follow-up tests like amniocentesis. And as with other screening tests, NIPT carries the potential for false positives and false negatives—although the […]