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Proof-of-concept study presents a blood test that can identify genetic diseases in fetuses

A research team from Odense University Hospital and the University of Southern Denmark has developed an innovative screening test. With a blood sample from the expectant mother, they can scrutinize all the genes in the fetus.

In the recently published results of the research project in the New England Journal of Medicine, the researchers analyzed blood samples from 36 pregnant women. The findings indicate that the new test, named desNIPT, has demonstrated effectiveness in identifying alterations in fetal genes—a leading factor in severe congenital diseases.

“With our novel approach, we can now screen for the majority of known serious genetic syndromes using a simple blood test from the pregnant woman. Typically, this would otherwise require resorting to chorionic villus sampling or amniocentesis,” states Ieva Miceikaité from the Department of Clinical Research, University of Southern Denmark.

“This implies that we now possess enhanced opportunities to pinpoint the genetic cause of developmental issues in the fetus,” she adds.

First-generation NIPT test
desNIPT represents an evolution of the first-generation NIPT (Non-Invasive Prenatal Test) method, enhancing it with significant improvements. NIPT involves conducting the test without requiring chorionic villus sampling or amniocentesis, and it is administered prior to childbirth.

In this approach, the fetal DNA found in the bloodstream of the pregnant woman is scrutinized, fundamentally transforming the capacity to screen for diseases in unborn children in recent years.

DNA is released into the mother’s bloodstream through the placenta. Thanks to the remarkable sensitivity of the desNIPT test, researchers can now identify genetic abnormalities in the fetus even when the quantity of fetal DNA in the mother’s blood is minimal.

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