Scientists challenge understanding of fetal DNA — News-Medical
An international group of scientists led by the University of Adelaide analyzed decades of research into fetal DNA in the blood of pregnant women. The authors of the study, published in Science Advances, believe that a better understanding of the origin, structure, and movement of this DNA could help improve non-invasive prenatal testing.
News-Medical reports on the review's findings. The researchers revisited established assumptions about how fetal DNA fragments enter the mother's bloodstream and which biological structures they may be associated with afterward.
What NIPT tests for
Non-invasive prenatal testing, or NIPT, is a blood test used to screen for genetic conditions during pregnancy. The method examines small fragments of placental DNA circulating in the mother's blood. Since 2011, millions of women worldwide have used the test because it is a safer alternative to invasive procedures, including amniocentesis.
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At the same time, study author Kieran Sparks of the University of Adelaide's Future Industries Institute noted that a NIPT result indicating a high risk of a chromosomal condition requires confirmation through an invasive diagnostic procedure. According to him, such results are rare, but in 47% of cases, a high-risk result proves to be a false alarm.
Origin of DNA fragments
Fetal DNA is generally believed to originate from the placenta, but the exact cell types that release it have not yet been established. It is also unknown whether it travels in the blood associated with biological particles, including extracellular vesicles, or with other molecular structures.
The authors believe that answers to these questions could help increase the proportion of fetal DNA available for analysis. This measure, known as the fetal fraction, is described as one of the key challenges for current prenatal screening technologies. The scientists also suggest that future developments could expand the list of genetic disorders detectable from a blood sample, as well as contribute to the early detection of pregnancy complications such as preeclampsia.
