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Health News Florida

New Prenatal Test Reveals Genetic Disorders and a Surprise

Robin Adkins Vosler is a planner. At just 11 weeks pregnant -- hardly even showing -- she had already amassed quite the wardrobe for her unborn son or daughter.

"Literally, probably for already the last year, I have been buying baby clothes. I find designer baby clothes in Salvation Army all the time," said Vosler, of Seminole Heights. "So my husband told me I had this one box to fill, and when the box was filled, that was it. I mean, I have Buccaneer stuff and Super Bowl stuff. It's hilarious. But now I have a great collection of boy's and girl's designer baby clothes."
Baby clothes aren’t the only thing Vosler needs to plan for. By the time she delivers her first child in August, she’ll be 35.

"At the first OB visit, my doctor sat us down and explained to us that I would be considered advanced maternal age, which is being 35 at delivery," Vosler said.
“Advanced maternal age” means Vosler is at higher risk for having a baby with a baby with Down syndrome or another genetic disorder. So Vosler’s doctor recommended she have a new type of screening test that analyzes the DNA of the unborn baby.
Fetal DNA tests have been on the market for about a year, under commercial names like Verifi and Materniti21. Depending on a woman's insurance, the test costs around $230 out of pocket. Fetal DNA tests are less invasive than traditional methods, requiring a simple blood draw. They're also more accurate -- up to 99 percent.
This means fewer false positives, said Vosler's OB/GYN, Dr. Evelyn Serrano.
"That's something that we fight as obstetricians, because patients and couples have unnecessary worry when they have a beautiful, healthy infant," Serrano said. 
For couples whose test does reveal an abnormality, the information gives them extra time to join support groups, line up medical specialists for the delivery, find appropriate child care and join support groups, Serrano said. And depending on the severity of the abnormality, some parents may choose to abort the fetus.
Dr. Jerry Yankowitz, chairman of the department of obstetrics and gynecology at the University of South Florida, says fetal DNA testing has been a long time coming.
"The older tests were looking for chemicals produced in the baby’s body or the placenta or an interaction with the mom, and so it was a very indirect test of whether there was something genetically wrong," Yankowitz said. "This test is attempting to directly look at the baby’s genetic material. And the only reason -- or at least one of the reasons -- it’s not exactly 100 percent is the genetic material floating in mom’s blood is still 90 percent hers, 10 percent baby’s. And they have to use really complicated biochemical analysis and computers, or supercomputers, to sort out the various ratios. But again, these numbers are pretty astounding in terms of what it picks up."
Abnormalities aren't the only thing the test picks up. Because the screening looks at fetal DNA, it can reveal the baby’s gender as early as 10 weeks. That’s more than a month sooner than traditional ultrasounds.
This has some low-risk moms shelling out $400 or $500 for so-called “boutique” blood tests to learn the sex of their baby. Vosler and her husband, Jason, learned the gender of their baby -- who tested negative for Down syndrome -- live on NBC’s Today show as part of a story on the new screening.
They'll spend the next couple of months preparing for the arrival of their healthy baby boy. A few more trips to the Salvation Army may be in order. 

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