A new type of prenatal screening can tell parents with more than 99 percent accuracy whether their baby will be born with a genetic abnormality, such as Down syndrome. The test reveals something else that may attract even low-risk moms.
COLON: Robin Adkins Vosler is a planner. When I visited her at home in Tampa recently, Vosler was just 11 weeks pregnant -- hardly even showing. But already, her unborn son or daughter had quite the wardrobe.
VOSLER: Literally, probably for already the last year, I have been collecting or buying baby clothes. I find designer baby clothes in Salvation Army all the time. So my husband told me I had this one box to fill, and when the box was filled, that was it. So I’ve been -- I have Buccaneer stuff and Super Bowl stuff... But now I have a great collection of boys and girls designer baby clothes. Rock and Republic Jeans. It’s crazy.
COLON: 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.
VOSLER: 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.
COLON: “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. I asked Vosler to explain how the test worked. [to Vosler] So can you describe in plain English how the procedure worked?
VOSLER: Yes. They literally draw your blood. And that’s it. (laughs) It’s that simple. And I know the reason you asked that question is the same reason a lot of other people ask. Past tests have been invasive, like there’s the one that takes the long needle that goes through your belly button --
COLON: -what’s known as amniocentesis
VOSLER: -and really even had a small chance that it could cause a miscarriage, just to test for Down syndrome.
COLON: Not to mention, older tests gave only a probability that the baby would be born with a genetic disorder. Some parents stressed over what turned out to be a false positive. But the new screenings are more than 99 percent accurate, as Dr. Jerry Yankowitz [“YANK-oh-wits”] explains. He chairs the department of obstetrics and gynecology at the University of South Florida.
YANKOWITZ: 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. 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. These numbers are pretty astounding in terms of what it picks up.
COLON: 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, by the way -- live on NBC’s Today Show as part of a story on the new screening.
MATT LAUER: You will find the sex of your child in that box right there! … It’s a boy... were you surprised?
COLON: Vosler and her husband will spend the next few months preparing for the arrival of their healthy baby boy. A few more trips to the Salvation Army may be in order.