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January 2014

Newer Prenatal Test Less Risky for Finding Birth Defects

Every mother-to-be hopes for a healthy baby. Prenatal testing can help your doctor identify problems before your child is born. Some of these tests can be risky for the fetus. Noninvasive prenatal testing (NIPT) is a safer technique that may provide answers about certain birth defects.

How NIPT fits in

Prenatal testing includes many different tests given throughout your pregnancy. Some focus on you. These may include periodic blood pressure readings or screenings for infections or pregnancy-related diabetes.

Other prenatal tests check your unborn baby's health. These include amniocentesis, chorionic villus sampling (CVS), and NIPT. These tests look at fetal DNA for serious disorders, such as Down syndrome. It's a common birth defect that causes mental and physical health problems. It occurs when the fetus has an extra chromosome.

Your doctor may recommend NIPT if you are at high risk for having a baby with Down syndrome or another related condition. You are more likely to give birth to a child with such a disorder if you are older than 35 or have a personal or family history of birth defects. You may also receive NIPT if an earlier blood test or ultrasound is abnormal.

Pros and cons of NIPT

One major benefit of NIPT is when it can be done—as early as 10 weeks into pregnancy. Unlike other tests, it also poses little risk for your unborn baby. Amniocentesis and CVS may cause pregnancy problems, including miscarriage. NIPT requires only a simple blood test.

NIPT may be low risk, but its results may not always be definitive. One percent of women may receive a false negative result. Even after testing normal, their unborn child may actually have a birth defect. The test may also suggest a problem when there isn't one. For these reasons, experts recommend follow-up testing with amniocentesis or CVS. Those tests can provide a nearly 100% accurate diagnosis.

Another concern of NIPT is cost. Not all insurance companies cover it. The out-of-pocket price for NIPT can range widely, from $295 to $1,700.

Questions to Ask Your Doctor About NIPT

NIPT is currently for women only at high risk of having a baby with certain birth defects, such as Down syndrome. Ongoing research, though, may eventually extend its use to all pregnant women. It may also one day be able to detect many other birth defects.

If you think NIPT may be right for you, talk with your doctor. Below are some questions that can help with the conversation:

  • Is my baby at high risk for Down syndrome or another birth defect?

  • Should I consider NIPT?

  • How long will I have to wait for results?

  • If the result is positive, what are my options, including further testing?

  • What risks are involved with any additional testing, such as amniocentesis? 

January is National Birth Defects Prevention Month. Click here to learn more about how prenatal testing can help you and your baby.

Online resources

March of Dimes – Prenatal Tests

National Coalition for Health Professional Education in Genetics – Noninvasive Prenatal Testing (NIPT) Factsheet

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