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

Currently, the first-generation Non-Invasive Prenatal Test (NIPT) is used widely to screen fetuses for common chromosomal disorders, mainly focusing on conditions like Down syndrome and other anomalies resulting from significant chromosomal changes. However, many congenital disorders stem from more subtle alterations in fetal DNA. To detect these, a comprehensive examination of all the genes in the fetal genome, known as exome sequencing, is necessary. Typically, this level of screening is reserved for pregnancies where ultrasound scans suggest abnormalities. This is due to the invasive nature of the required tests, such as chorionic villus sampling or amniocentesis, which are accompanied by discomfort and a slight risk of miscarriage. Consequently, many severe genetic conditions remain undetected until after birth. Now, an innovative test uses a blood sample from expectant mothers to analyze all the genes in the fetus, making it possible to screen pregnant women for serious genetic diseases in their unborn children.

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.”

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