The Latest Fetal DNA Test for Down Syndrome: More Accurate but less dependable according to experts.



A new fetal DNA assessment known as the Roche blood test is used to assess fetuses for Down Syndrome that can be much more efficient than typical prenatal assessments in low-risk women, investigators stated on Wednesday. This latest research was publicized in the New England Journal of Medicine, and is the biggest research to show the precision of fetal DNA assessments.

Dr. Mary Norton of the University of California, San Francisco, together with the other investigators assessed approximately 16,000 participants with an average age of 30 and evaluated Roche’s Harmony assessment to the typical prenatal assessment within the cluster of women. Typical assessment consists of a fetal ultrasound and relies on biomarkers in the blood.

In the pregnant women assessed, thirty cases of Down Syndrome were known through the typical assessment while thirty-eight cases were known through the Roche test. The typical assessment had a false positive rate of 5.4 percent, however the Roche assessment had a rate of 0.06 percent.

Even though the assessment’s outcome can be precise, specialists notified women who assess positive to still authenticate the outcome with a more persistent diagnostic assessment, and that’s amniocentesis.

The assessment is enormous for identifying Down Syndrome and it is a “major advance” says Dr. Norton. However, she said that the test “doesn’t detect everything” and it does not always “provide a result.”

According to Reuters, due to lack of fetal DNA in each woman’s blood, about 500 of the women didn’t obtain any outcome from the fetal DNA assessment. Consequently, additional assessments concluded that almost 2.7 percent of the fetuses had chromosomal deficiencies that couldn’t have been identified using the fetal DNA assessment.

A letter by Ankita Patel and colleagues of Baylor College of Medicine and the Chinese University of Hong Kong was publicized in the New England Journal of Medicine  states that women shouldn’t end pregnancies based on these screenings. Patel stated that women believed the fetal DNA assessment is diagnostic “because it’s genetic.”

The FDA is planning into ordering the assessments. Patel believes that ordering the assessments is an excellent plan because it would “give women more disclaimers” so that they are conscious of “what they are getting into.”




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