Enhanced Detection of Down Syndrome Using Noninvasive Prenatal Testing

A comprehensive study evaluating prenatal screening methods has found that noninvasive prenatal testing (NIPT) significantly surpasses second-trimester serum screening (STSS) in both accuracy and cost-effectiveness for detecting Down syndrome (trisomy 21). Conducted on a large cohort of 140,472 pregnant women between March 2018 and December 2020, the research highlights that NIPT identifies twice as many Down syndrome cases as traditional STSS. The study, led by researchers from Changsha Hospital for Maternal & Child Health Care, Hunan University, and BGI Genomics, demonstrates that NIPT offers superior sensitivity, specificity, and positive predictive value across all age groups, markedly reducing false positives and negatives. Importantly, universal NIPT screening enables earlier and more reliable detection, which can minimize the need for invasive diagnostic procedures and optimize resource utilization. The findings suggest that NIPT should be considered as the first-line screening tool for Down syndrome, providing an effective balance of effectiveness and affordability. The research, published in 'Frontiers in Public Health,' underscores the potential for widespread adoption of NIPT to enhance prenatal care and screening accuracy.