The desNIPT test can detect genetic abnormalities even with minimal fetal DNA in the blood

In the future, pregnant women may be able to screen their unborn children for serious genetic diseases using a simple blood test. Researchers from Odense University Hospital and the University of Southern Denmark have developed a new screening test that examines all the genes in the fetus using a blood sample from the expectant mother.

Published in the New England Journal of Medicine, the study analyzed blood samples from 36 pregnant women. The results showed that the new test, called desNIPT, effectively identifies changes in fetal genes, which are often linked to severe congenital diseases.

“This new approach allows us to screen for most serious genetic disorders using a blood test from the pregnant woman, eliminating the need for invasive procedures like chorionic villus sampling or amniocentesis,” explains Ieva Miceikaité from the University of Southern Denmark.

The desNIPT test builds upon the first-generation Non-Invasive Prenatal Test (NIPT) method but with significant improvements. It analyzes fetal DNA in the mother’s bloodstream without the need for invasive procedures and can detect genetic abnormalities even with minimal fetal DNA in the blood.

Currently, the first-generation NIPT is used to screen for common chromosomal disorders like Down syndrome. However, many congenital diseases result from subtle changes in fetal DNA, which require examining all genes in the fetal genome.

The desNIPT test combines the benefits of NIPT and exome sequencing, providing comprehensive insights through a simpler test. It has been successful in identifying disease-causing gene variants in pregnant women, with results comparable to invasive procedures.

The test shows promise for screening many more genetic diseases in the future, including those undetectable by ultrasound scans. Researchers believe it could be used alongside ultrasound examinations to provide more thorough screening before childbirth.

One challenge with screening tests is their accuracy, often leading to unnecessary follow-up diagnostic tests. However, the desNIPT test has shown remarkable accuracy in the study, with no false-positive results observed.

While this study is a proof-of-concept, further validation in larger studies is needed before the test can be widely available to pregnant women. Researchers are focused on refining and scaling the methodology to ensure its effectiveness and reliability.