New test for checking for Down Syndrome in pregnant women

April 24, 2012 1:52:15 PM PDT
Screening for Down Syndrome is one of the tests routinely offered to expectant women, but it can only determine your chances of your child having the disease.

Now a simple blood test is being offered that is changing the way Down Syndrome is diagnosed.

Leticia Schmidt and her husband Eduardo are expecting their third child, a baby girl this time.

Leticia is now 38-years-old and just had a new blood test to see if the baby has Down Syndrome.

"It's so easy to do it's basically my blood test," she said.

The new blood test is called MaterniT21 plus.. Your doctor can do it as early as 10 weeks into your pregnancy.

"It's going to revolutionize the way we counsel our patients," said Martin Chavez.

Dr. Martin Chavez is a specialist in high risk pregnancies at Winthrop University Hospital on Long Island. He says he has no financial interest in the company that makes test.

"If we take 100 patients and they do have a chromosaomal abmormality they'll be able to pick up 99 percent of those patients," he said.

The MaterniT21 plus test and other blood tests like it, look for actual DNA from the baby that's floating around in the mother's blood. If extra chromosomes are found, it could indicate a problem like Down Syndrome.

"There's a higher signal and they'll able to detect that even very early on," adds Dr. Chavez.

The test is not perfect but it's thought to be more accurate than earlier prenatal blood tests. The goal is to avoid more invasive tests like an amniocentesis which looks at actual cells from the developing baby.

Those invasive tests are accurate, there's no question but they also create a risk of miscarriage.

Leticia had an invasive amniocentesis during her second pregnancy, she's happy not to go through that again.

This time the results of her blood test came back as normal an Dr. Chavez says she needs no further testing.

As for the cost and insurance coverage, there is conflicting information. But so far it seems that most insurance companies are not covering it because the test is too new.

Leticia and her husband said it was not covered for them and they paid $475 for the test.

Maternit21 plus test

Verifi test

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