New Down Syndrome test for pregnant mothers

November 6, 2013

It used to be the only way to know if the baby had Downs was with amniocentesis or another test. Both of which carry the risk of sparking miscarriage. Doctors say this new blood test changes the way women at high risk are treated.

Seventeen-month-old Megan's parents say she was a wonderful addition to their family with big sister Katie and big brother Ben.

"She is a great 3rd child, very easy baby, she just goes with the flow," says mom Erica Milas of Mullica Hill, New Jersey.

Erica was 35 when she was pregnant with Megan. Her first screening showed a high risk the baby had Down Syndrome. She had received similar news about Katie but at that time, the only way to get a more accurate answer was with an invasive test.

"Either a needle stuck in their abdomen or a placental biopsy," said Dr. Ronald Librizzi, Chief Maternal-Fetal Specialist at Virtua. "Both of them the risk if you lose the pregnancy."

Even though the risk is small, Erica and her husband Jerry -- who are both doctors -- weren't willing to chance it. It turns out, the results was a false positive.

During the pregnancy with Megan, there was another way: A simple blood test. Doctor Ronald Librizzi at Virtua was involved in the research. He says the 'Cell-Free Fetal DNA' test looks at fragments of the baby's DNA in the mother's blood.

It can also detect some other abnormalities very accurately.

The original, sequential test showed Megan had a 1:40 chance for Downs. The new blood test ruled it out.

"I just felt relief and we were all just overjoyed she was going to be a healthy normal baby," mom Erica Milas said.

Erica and Jerry say there was never any intent to terminate the pregnancy but they wanted know ahead of time if there was a problem.

"I think as with anything in life, the more you can prepare for something the better you can deal with it," father Jerry Milas said.

"This test provides them an opportunity to get information without having to balance it as to whether they are going to risk the pregnancy," Doctor Librizzi, adding that right now the test is only for high-risk women. But he expects this breakthrough to expand to all moms-to-be in the future.

If the new test shows the baby could have Down Syndrome, then the mother can get one of the more invasive tests if she wants more information. Right now there are several companies ( Verinata Verifi Test | Materni21 | Harmony) making the new blood test, which has been cleared by the Food and Drug Administration.

Women considered at high risk are women over the age of 35, if they have a family history or another child with a chromosomal abnormality and if the first sequential screening test shows a high risk for Down Syndrome.

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