Noninvasive prenatal testing (NIPT) performed with massively parallel sequencing of cell-free DNA (cfDNA) in maternal plasma came into use in clinical prenatal care in the US in late 2011. As a result of multiple clinical validation studies, organizations such as ACOG, SMFM, and NSGC published committee opinions stating that cfDNA testing could be offered to pregnant women at high risk for fetal aneuploidy as a screening option after counseling.
Over time, however, questions surrounding NIPT performance for low-risk pregnancies have emerged. Previous studies have been conducted in low-risk populations, and the findings are encouraging. However, the examined populations were narrowly defined, and the screening algorithms were not representative of the approaches currently used in the US.
In contrast, the CARE study (Comparison of Aneuploidy Risk Evaluations) is a prospective, blinded multicenter observational study comparing the results of NIPT for fetal autosomal aneuploidy with the results of conventional screening for trisomies 21 and 18 in a general obstetric population. In this webinar, Lawrence D. Platt, MD, director of the Center for Fetal Medicine and Women’s Ultrasound, will review the study’s conclusion that NIPT had significantly lower false positive rates and higher PPV for T21 and T18 compared to standard screening.