A groundbreaking study has demonstrated that noninvasive prenatal testing (NIPT) significantly outperforms second-trimester serum screening (STSS) in both accuracy and cost-effectiveness for detecting Down syndrome (DS). According to the research, NIPT identifies twice as many DS cases as traditional STSS, marking a pivotal advancement in prenatal care.
The large-scale study, conducted by experts from Changsha Hospital for Maternal & Child Health Care, Hunan University’s School of Public Administration, and BGI Genomics in China, was published this month in Frontiers in Public Health. It analyzed screening data from 140,472 pregnant women between March 2018 and December 2020, providing a comprehensive real-world evaluation of the two screening strategies.
Central to the research was an assessment of NIPT’s sensitivity, specificity, and positive predictive value in detecting trisomy 21, the chromosomal abnormality responsible for most DS cases. The results clearly showed that NIPT’s accuracy significantly exceeds that of STSS, with a notably lower rate of false positives and false negatives across all maternal age groups.
The universal NIPT screening strategy—offering the test to all pregnant women—emerged as the most effective method, delivering a net benefit far greater than STSS while maintaining lower incremental costs. This approach detected 163 DS cases with a cost-effectiveness ratio of RMB 1:9.53, outperforming combined strategies that pair STSS with NIPT, which identified fewer cases at higher expense.
Moreover, the study highlights that NIPT reduces the necessity for invasive diagnostic procedures, such as amniocentesis, thereby minimizing associated risks and optimizing healthcare resources. Given these findings, the researchers advocate for adopting NIPT as the first-tier screening method for Down syndrome.
This research underscores a critical shift in prenatal screening protocols, offering compelling evidence that NIPT not only improves detection rates but also provides substantial cost savings. The study’s conclusions pave the way for broader implementation of NIPT, promising enhanced prenatal care accessibility and better outcomes for expectant families worldwide.
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