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New Genetic Testing for Expecting Moms

By KSEE Sales
January 28, 2013 Updated Jan 28, 2013 at 3:47 PM PDT

Robin Vosler, and her husband Jason, are expecting their first baby together this summer.

WS Robin nats
"...don't you love that one?"

Robin Vosler
"It goes back to the planning... you just want to be as prepared as you can for your child coming into the world."

At almost 35, she's at a higher risk than younger mothers for delivering a baby with genetic abnormalities, like Down's Syndrome. To screen for those, doctors routinely use tests like Amniocentesis and C-V-S, which are invasive and can give false positive results. Robin's doctor suggested something relatively new and VERY different, the MaterniT-21 Plus Test.

Dr Nats
"...It's the best test we have today that's non-invasive..."

It's a simple blood draw as early as the 10th week of pregnancy allowing some of the fetus' D-N-A to be extracted and analyzed, and it can be done weeks before other screenings would reveal genetic issues according to Robin's doctor, who's now using the test in her practice.

Dr. Evelyn Serrano - Ob/Gyn
"...so you're buying that patient an extra month, or even two, that they can opt to get other testing, see another specialist and things like that."

It costs about the same as amniocentesis, about 2-thousand dollars. The D-N-A is sequenced at the test-maker's lab and results come back in a week.

The manufacturer, Sequenom, claims an accuracy rate near 99-percent

Dr. Allan Bombard
"...The advantage is there is no risk to the tester, there's no invasive testing.

And a non-invasive test can lessen the chance of miscarriage.. but experts caution, it does have limits.

G. Kevin Donovan - Georgetown
You can do this test, and you will know about Trisomes but this doesn't guarantee that there won't be some other problem with your baby.

For Robin and her husband, getting an earlier answer on potential genetic issues was important.

Robin Vosler
"It's one less thing for us to worry about, being 35 or older at delivery..."

And it's not the reason for the test.. but it is a benefit for some -- it will reveal early on the baby's gender.

For Today, Janet Shamlian, NBC News

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