As any expectant mom will tell you, the thought of having amniocentesis can be a bit nerve-racking. But there's a new line of testing out there that requires nothing more than a blood draw.
Sharman Russell is a fourth-year obstetrics and gynecology resident at the University of Kansas Hospital. Not only that, but she's also an expectant mom.
"My husband and I had had lots of discussions about different options and different tests, what we'd do. It was something we'd definitely considered and then, at six weeks, we found out it was no longer an option," she said.
It was no longer an option because Russell is expecting twins. Still, she said, a new noninvasive prenatal test is something she's happy to be able to offer her patients.
"A lot of people shy away from amnio. I think that the risks of the amnio scare them away more because it wouldn't alter what they'd do with the pregnancy, but they also want that information," she said.
Amniocentesis is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections. It's also used to determine a fetus' gender. During the process a small amount of amniotic fluid, which contains fetal tissues, is sampled from the amniotic sac surrounding a developing fetus, and the fetal DNA is examined for genetic abnormalities.
There are several companies getting in on the new test, which tests for things like Down syndrome and other chromosomal abnormalities, but instead by pulling the baby's DNA from a simple blood sample taken from the mom.
It's something that, until now, has only been determined by more invasive tests like amniocentesis.
The new tests are not 100 percent, but they do offer a noninvasive form of peace of mind for a lot of families.
"(It) sounds great, but it hasn't yet been perfected," said Dr. Carl Weiner with the University of Kansas Hospital.
Weiner sees high-risk patients every single day and, while the tests are certainly an option for some of his patients, he doesn't push them.
"The catch is, if you get back a normal result, they're not going to tell you your baby is OK. They'll give you a risk and that's because it's still considered a screening test," he said.
That means if a parent's risk of Down syndrome was one in 20 based on something like age, the test may tell you it's more like one in 1,000 or, on the flip side, one in 12. The test narrows down the possibilities for parents so they can be better prepared.
For now Weiner said the test should only be used for high-risk pregnancies and he warns that false positives can and do happen.
One of the drawbacks of the test is the cost. It can run into the thousands of dollars, so it's best to check with your insurance company to see if your policy will cover it.
Tuesday, September 2 2014 8:44 PM EDT2014-09-03 00:44:29 GMT
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