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Study Finds DNA Screening Better At Identifying Prenatal Genetic Defects

By Paula Ebben, WBZ-TV
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Award-winning journalist Paula Ebben co-anchors WBZ-TV News at 6PM...
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BOSTON (CBS) — It’s the news no expecting mom wants to hear, “there was a chance she was going to be stillborn or wouldn’t live past her first year.”

That’s what Jennifer Fontaine’s doctors told her after she underwent genetic screening in the first trimester of her pregnancy. The traditional blood test had turned up a chromosome abnormality in the fetus. Then the Groveland woman had a new test which actually screens DNA.

“The DNA results came back perfect. Nothing was wrong with chromosome 18 and she was perfect,” says Jennifer. She gave birth to a healthy baby girl named Morgan in December.

In a new study, doctors at Tufts Medical Center found that the DNA test performed significantly better compared to the traditional screening for hormones and proteins. Both only require a simple blood sample.

WBZ NewsRadio 1030’s Diane Stern reports

“If you’re just concerned about whether or not your baby has Down syndrome, trisomy 18, trisomy 13 this is a better test,” says Dr. Diana Bianchi.

While other studies have already proven the DNA test is more accurate than the standard blood test for high-risk pregnancies this is the first one to look at the accuracy of the DNA test for low-risk pregnancies. Using this procedure Dr. Bianchi says, “significantly fewer women would be referred for subsequent genetic counseling and would not need to have an invasive procedure.” Invasive procedures like an amniocentesis which can be painful and carries a risk of miscarriage.

The major limitation of the DNA test right now is the cost. Many insurance companies won’t cover the test for women deemed low-risk. But as more research is expected to confirm these initial findings from Tufts the DNA test could soon become the new standard of care.

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