Non-invasive prenatal test for birth defects available

HARTFORD, Conn. (WTNH) -- A false positive for a birth defect is more common than you might think, but now there is a prenatal test to ease the minds of pregnant women.

It's 21 weeks and counting until Monica Jakiel gives birth to her first baby, but it has not been stress free.  

"We were so caught off guard that we were just hoping for the best," she said.

A screening showed her baby was at risk for Down Syndrome.

"In the back of our minds we just kept thinking this baby is healthy," she said. "We just have to keep thinking that way, that this baby is healthy and everything is going to be fine."
   
Luckily for Monica a non-invasive test for chromosomal abnormalities is now available.

It begins with drawing blood from the mother.

Dr. MaryBeth Janicki explains, "They look at the DNA of the baby in the maternal blood and they are able to tell how many copies of chromosome 18, 13, and 21 are present in the baby."

Dr. Janicki specializes in high risk pregnancies at St. Francis Hospital and Medical Center in Hartford.

"It's really a game changer in our field, allowing us to give information about a pregnancy to a woman without putting the pregnancy at risk," she says.
 
It also eliminates false positives.

"If we tell you the baby doesn't have Down Syndrome with this test, then the baby doesn't have Down Syndrome." However, Dr. Janicki says, "If we tell you the baby does have Down Syndrome, the baby does. We recommend though that be verified and the company does as well."

Monica says, "I couldn't see any reason why I wouldn't have the test just for my peace of mind."   

She and her husband received positive results and now haven that peace of mind.
     
"I can feel the baby kicking, I can feel it moving around," she said.

The Verifi prenatal test also detects two other birth defects, including Edwards Syndrome.

Dr. Janicki says while it can give a lot of reassurances the test does not assess other problems the baby might have.

Learn more at www.verinata.com