Simple Blood Test Screens Pregnant Women for Serious Genetic Diseases in Fetuses

The new test, named desNIPT, was developed by a research team from the University of Southern Denmark (Odense, Denmark) and has been proven capable of detecting mutations in fetal genes, which are often the root of serious congenital diseases. This new test builds upon the foundations of the first-generation NIPT, significantly enhancing its capabilities. Unlike traditional methods that require invasive procedures, desNIPT can be conducted with a simple blood draw from the pregnant woman, offering analysis before the child is born. This technique examines fetal DNA circulating in the mother's bloodstream, a breakthrough that has revolutionized the potential for prenatal disease screening in recent times. Even when the amount of fetal DNA present in the mother's blood is relatively low, the heightened sensitivity of the desNIPT test allows for the detection of genetic abnormalities in the fetus.

In a research study, 36 pregnant women were monitored, with blood samples collected during their first or second trimester. Each pregnancy had been flagged by ultrasound scans as potentially carrying a serious genetic disease in the fetus. From these 36 pregnancies, de novo disease-causing mutations were identified in 11 cases through the desNIPT analysis. The findings from desNIPT were then cross-referenced with results from traditional exome sequencing obtained via chorionic villus sampling or amniocentesis. The researchers found that the new method successfully detected all the disease-causing gene variants that were identified through the invasive prenatal tests, proving its efficacy. This innovative test paves the way for more comprehensive genetic screenings in the future, including the detection of conditions that might not be visible via ultrasound scans.

“We are highly optimistic as the study indicates that the desNIPT test is remarkably accurate. In the examined pregnant women, we did not observe any false-positive results,” said Martin Larsen, project leader and associate professor at the University of Southern Denmark. “Presently, our focus is on validating the test through a larger study, as well as refining and scaling the methodology.”

Related Links:
University of Southern Denmark