Noninvasive prenatal testing identifies twice as many Down syndrome cases as second-trimester serum screening

A novel examine has analyzed the cost-effectiveness of various Down syndrome (DS) screening methods. The end result confirms that noninvasive prenatal testing (NIPT) outperforms second-trimester serum screening (STSS) in accuracy and cost-effectiveness, as NIPT identifies twice as many DS instances as STSS.

The examine was performed by researchers from Changsha Hospital for Maternal & Youngster Well being Care, Faculty of Public Administration, Hunan College in China, and BGI Genomics. The paper was printed within the journal Frontiers in Public Well being early this month.

Carried out on a big scale, involving 140,472 pregnant ladies from March 2018 to December 2020, this real-world evaluation evaluates the efficiency of NIPT in comparison with conventional STSS. The researchers aimed to evaluate which screening technique would provide the very best stability between effectiveness and price, making certain that prenatal care may be each superior and accessible.

Key to the examine was its examination of the sensitivity, specificity, and optimistic predictive worth of NIPT in detecting trisomy 21—one of many key indicators of DS. NIPT confirmed considerably increased sensitivity and specificity in comparison with STSS, and NIPT identifies twice as many DS instances as STSS, making it a much more dependable choice.

The common NIPT screening technique, which includes providing NIPT to all pregnant ladies, was discovered to be the simplest in detecting DS instances, with a web profit far exceeding that of STSS. Not solely did NIPT detect extra instances, nevertheless it did so at a decrease incremental value, establishing it as a powerful contender for widespread implementation.

NIPT as first-tier screening methodology for DS

On this examine, NIPT exhibited considerably increased sensitivity, specificity, and optimistic predictive worth in comparison with STSS for DS. NIPT additionally demonstrated decrease false optimistic and false damaging charges. Throughout all age teams of pregnant ladies, NIPT constantly maintained wonderful sensitivity and specificity, outperforming STSS in all detection metrics.

NIPT successfully diminished the necessity for invasive prenatal diagnostic procedures, thereby optimizing useful resource utilization and minimizing the dangers related to invasive methods. Given its superior detection efficiency, researchers prompt that NIPT needs to be thought-about as a first-tier screening methodology for Down syndrome.

The evaluation discovered that common NIPT screening led to the detection of 163 DS instances with a cost-effectiveness ratio of RMB 1:9.53. Compared, a mixed STSS and NIPT technique detected fewer instances, albeit at a better value. The common method affords an accessible but extremely efficient answer for prenatal screening.

This examine proves that NIPT has superior testing efficiency in comparison with STSS, signaling a major step towards higher prenatal care. It gives clear proof that NIPT not solely enhances the accuracy of Down syndrome screening but in addition affords substantial value financial savings, making it a possible choice for widespread adoption.

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BGI Genomics