Jan. 28, 2013 at 11:06 AM ET
Robin Vosler likes to be ready for everything, so she signed up for genetic testing after learning that she and her husband, Jason, were expecting their first child. A new test gave them good news on two fronts.
"It goes back to the planning and just wanting to be as prepared as you can for your child coming into the world," she said. “It's one less thing for us to worry about.”
Vosler will be 35 when she is due to give birth this summer, putting her at a higher risk for delivering a child with Down syndrome. Her doctor recommended the relatively new MaterniT-21 Plus test, a blood test done as early as 10 weeks into the pregnancy, weeks before more invasive tests like amniocentesis, which carry a slight risk of miscarriage.
“At our first doctor’s appointment, our doctor sat us down and told us we would be considered advanced maternal age at delivery and just went over some of the precautionary tests that they want you to take and checking for Down syndrome is one they begin at 35,” Robin said on TODAY Monday.
Within about a week, the Voslers learned that their unborn child does not have the marker for Down syndrome. “The test came back negative,” she said. “We are safe.”
The Voslers had decided against terminating the pregnancy if the fetus had Down syndrome, which causesmoderate to serious developmental problems, but wanted the information to help them prepare.
“For us, it would just be planning and understanding what is the next step,” Robin Vosler said. “Do we need to see a new doctor? Are there new precautionary things to do at that point to find out more about having a child with Down syndrome?”
The MaterniT-21 Plus test is the next scientific step to let couples rule out genetic problems, said Dr. Nancy Snyderman, chief medical editor for NBC News.
“Critics will say, hey look, this is a way to find out early and then abort because we want the perfect baby,” she said.
But it gives couples like the Voslers more time to get ready if their child will have a genetic disorder by lining up specialists or talking to doctors before the birth, Snyderman said.
“In that regard, it allows people to really think, what’s the realistic expectation of this pregnancy and what does my life look like with this new baby?” she said.
Sequenom, the test’s maker, claims an accuracy rate of close to 99 percent. The test costs roughly the same as amniocentesis, about $2,000, and it may be covered by insurance.
"The advantage is there is no risk to the tester, there's no invasive testing,” Sequenon’s chief medical officer, Dr. Allan Bombard, told TODAY.
The Vosler’s doctor said the test is the best non-invasive one available today.
"You're buying that patient an extra either month, or even two, that they can opt to do other testing, see a specialist and things like that," Dr. Evelyn Serrano told TODAY.
And in a side benefit, the test allows couples to find out the gender, which the Voslers did live on TODAY.
Robin untied the green and yellow ribbons from a large box and removed the top to reveal an array of blue items. “Oh, it’s a boy,” she said, as Jason pumped his fists with a happy “Yes!”
“I had no idea,” Robin said. “There’s a lot of boys in his family so he said it’s probably a boy. We’re really excited.
“My stepson is going to be extremely excited,” she added. “Now he has his first little brother.”
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