New Down Syndrome Prenatal Test Is Noninvasive, Surge In Testing Predicted

Only 2 percent of all pregnant women in the United States currently undergo Down syndrome prenatal testing. However, a new noninvasive Down syndrome prenatal test may result in a surge of testing among more expectant mothers, reports the Canadian Medical Association Journal.

The new prenatal test dubbed MaterniT21 PLUS can detect Down syndrome as well as trisomy 13 and trisomy 18. Unlike the currently available prenatal tests, chorionic villus sampling (CVS) and amniocentesis, the MaterniT21 PLUS Down syndrome test is noninvasive, requiring only a blood sample from the mother.

According to the American Pregnancy Association, current prenatal tests such as amniocentesis that require the insertion of a needle through the abdomen carry certain risks. For example, the risk of miscarriage associated with amniocentesis ranges from 1 in 400 to 1 in 200. The risk of miscarriage associated with CVS is 1 in 100.

Using a maternal blood test to prenatally test for Down syndrome carries far fewer risks. According to the National Institutes of Health, the risks associated with having blood drawn for a blood test include excessive bleeding, fainting or light-headedness, hematoma, and infection. However, the risks are slight.

With the advent of the new noninvasive MaterniT21 PLUS Down syndrome prenatal test, professionals predict that more pregnant women will opt for prenatal genetic testing. As Dr. Brian Skotko, a medical geneticist in the Down syndrome program at Children’s Hospital Boston in Massachusetts, asks, “The open question is, now that we have a noninvasive test, will the number of women tested increase, if not altogether skyrocket?”

Current pricing for this noninvasive prenatal Down syndrome test is $235 out-of-pocket for women with private insurance and $1,900 for women without insurance.

However, use of the new MaterniT21 PLUS prenatal test is not without concern. First, some women still will not want to know whether their unborn baby has any genetic problems including Down syndrome. As Dr. Edward McCabe, executive director of the Linda Crnic Institute for Down Syndrome and professor of pediatrics at the University of Colorado School of Medicine in Aurora, states:

“We’re concerned about women who don’t want to know. You could have a physician say, ‘By the way, we did this test and you appear to be positive.’ Then the doctors will be making the decision rather than mothers.”

Furthermore, some doctors worry that a large number of families will be given information on Down syndrome from health care professionals who know little about the condition. As McCabe comments:

“We believe in informed decision-making. Using outdated information about life expectancy and outcomes is not properly informing the family.”

Finally, some individuals, both inside the medical field and out, worry that more women will decide to terminate their pregnancies should the new noninvasive Down syndrome prenatal test yield positive results. Ethical issues aside, doctors like Skotko worry about the future of Down syndrome research:

“If there are fewer and fewer babies born with Down syndrome, the question is: will [research] funding agencies still consider it something worth funding?”

As Michelle Sie Whitten, executive director of the Global Down Syndrome Foundation, adds:

“Down syndrome is the least-funded genetic condition by the NIH [National Institutes of Health], bar none. How can we attract good scientists and good doctors? There’s no money in this field. They will go into autism or go into other things. It’s like a nail in the coffin.”

However, she also notes that her group is “not opposed to early, better, safer, cheaper testing for women” but rather opposed to “the idea of doctors providing inaccurate information.” Pregnant women should have access to Down syndrome prenatal testing, but the benefits must be weighed against the costs.

Would you opt for the noninvasive Down syndrome prenatal test MaterniT21 PLUS?