Noninvasive Prenatal Tests Analyze Your Baby’s Risks

Older moms-to-be get early screening for Down syndrome

Nicole and family

For some women, getting pregnant is the easy part of their journey to parenthood. Instead of facing fertility issues, they worry about the potential health risks their unborn baby faces.

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The older you are, the more apprehensive you may be. Statistically, your baby’s chances of having Down syndrome or other birth defects increase as your age increases.

[Tweet “Noninvasive prenatal tests detect baby’s risk of #birthdefects earlier in pregnancy #maternalfetal”]Fortunately, there are noninvasive prenatal tests that allow expectant parents to know more about their baby’s health early in a pregnancy. This knowledge enables you to get treatments that fit your situation. It also gives you options early in your pregnancy, especially if you’re considered high risk.

“There are tests that we can do to check for birth defects,” says maternal fetal medicine specialist Abdelaziz Saleh, MD. “One of these is a maternal blood cell-free fetal DNA analysis. It’s a noninvasive prenatal testing (NIPT) that lets us examine the DNA of the baby through blood drawn from the mom.”

What Is NIPT?

NIPT has been around for nearly two decades and is 98 percent accurate at detecting Down syndrome. (You may hear it called by the brand names MaterniT21® or Harmony™ Prenatal Test.) Pregnant women like the fact that by having blood work done, they know their risks. Plus, NIPT can be done in the 10th week of pregnancy in the first trimester.

The down side?

“There is a problem with false positives and false negatives with these tests,” Dr. Saleh says. “The only tests that provide 100 percent certainty about chromosomal abnormalities are amniocentesis and chorionic villus sampling, which we offer in the second trimester. Those are invasive tests, and there is a risk that they can lead to miscarriage.”

Who should have noninvasive testing?

Noninvasive prenatal tests aren’t meant for all pregnant women. As a testing option, they’re primarily offered to women who:  

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  • Are age 35 or older
  • Have had an abnormal sequential screening test or quadruple marker screen (quad screen). The sequential screen uses ultrasound and blood tests to determine risks, while a quad screen measures certain hormone levels in the mother’s blood.
  • Have an abnormal finding on an ultrasound
  • Carried a baby with a chromosome abnormality previously

Peace of mind

As a pregnant woman with the diagnosis of “advanced maternal age,” Nicole Herbst did not come across noninvasive prenatal tests in her research.

“I didn’t know such a test existed,” says Herbst, 40. “I was terrified of my baby having serious or life threatening birth defects, so if I could know for certain, I wanted to.”

Ms. Herbst’s maternal-fetal specialist recommended NIPT to Ms. Herbst and her husband, Rob.

“We felt that it would give us some peace of mind,” she says, “and if it turned out to be normal, we decided we wouldn’t have an amniocentesis done.”

After a two-week wait, Ms. Herbst’s results came back normal — and she learned her baby’s sex. In March 2014, the Herbsts welcomed their baby girl, Violet, who was born at Fairview Hospital.

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