This week, the New England Journal of Medicine published the results of a clinical trial conducted by a team of scientists working on a non-invasive prenatal screening (NIPS) test to identify chromosomal abnormalities. The team is led by Dr. Diana W. Bianchi, General Manager of the Mother Infant Research Institute at the Tuft Medical Center.
According to the results, the cfDNA test is 10 times more accurate than other NIPS tests designed to highlight chromosomal abnormalities such as Down syndrome or Edwards’s syndrome. The results also show that this test is reliable for all pregnant women and not just those who are deemed to be at risk based on the current screening test (serum markers). In fact, from 2011 onwards, the NIPS technique was initially used for women at risk. This test is the first to be carried out in a population of pregnant women with no established risks.
Dr. Bianchi nevertheless added a few qualifiers. She emphasised the fact that more research must be carried out before the cfDNA test replaces the tests currently applied to low-risk women. She also added that the cost of the test was a problem, ranging from $500 to $2,000.