Everything you need to know about the NIPT test

Prenatal tests aren't fun, but they are an important part of pregnancy. And the NIPT test is one that some moms-to-be actually look forward to. With nothing more than a blood draw, the NIPT can reveal your baby's sex and give you helpful information about your baby's chances of having a chromosomal disorder.

What is NIPT?

NIPT (noninvasive prenatal testing) is a blood test used to screen for Down syndrome and a few other chromosomal conditions. It's also known as cell-free DNA screening (cfDNA), because it tests the small amount of DNA that's released from the placenta into Mom's bloodstream.

The American Academy of Obstetricians and Gynecologists (ACOG) recommends that all patients, regardless of risk, be offered genetic screening options including NIPT.

There are different brands of NIPT tests, and not all test for the same things. Brands include the Harmony test, Panorama test, Materni T21, UNITY Complete, and Vistara Single-Gene NIPT. Your doctor or a genetic counselor can help decide which is best for you, depending on which conditions you want your baby to be screened for.

"As a screening test, nothing is better than NIPT," says Layan Alrahmani, M.D., a board-certified ob-gyn and member of the BabyCenter Medical Advisory Board.

Benefits of NIPT

NIPT is a simple procedure that provides a lot of useful information. 

As a screening test, nothing is better than NIPT.

- Layan Alrahmani, M.D., board-certified ob-gyn and maternal-fetal medicine specialist

There are some good reasons why it's such a popular test:

• It's not invasive. A simple blood draw taken at a regular prenatal checkup is all you need.
• It's perfectly safe for you and your baby and carries none of the potential risks of some other testing. (Amniocentesis and chorionic villus sampling (CVS) carry a small risk of miscarriage, for example.)
• While you'll need follow-up testing to confirm positive results, negative results provide a high degree of accuracy – and reassurance – for several conditions.
• It's available very early in pregnancy, at 10 weeks
• It's available up until delivery
• Results are provided quickly (within a couple of weeks, often sooner)
• If you want to know, the test can tell you whether you're having a girl or a boy

While it's offered to all women, not everyone takes advantage of the NIPT. Some worry that a false positive might cause unnecessary worry and stress, and others say that because they'll have the baby no matter the test results, there's little reason to have it.

"I have two kids, 4 and 2.5 years old, and have never gotten one done," says BabyCenter Community mom Crissybee18.

Others want to know as much as possible before their baby arrives. "Personally, I think it's important to understand if there's a potential problem with the baby so they can receive the best care immediately from a care team prepared for their specific issue," says Community member AngryLittleGoat.

Some women with a higher risk of having a baby with a chromosomal disorder may find negative NIPT results very reassuring. This includes women 35 or older, women who have had another baby with a chromosomal disorder, and women with concerning results on other prenatal tests.

Is the NIPT test accurate?

NIPT is accurate, but keep in mind that it's a screening test, not a diagnostic test. That means the results can't tell for sure whether your baby has a chromosomal condition or not.

"Screening tests are used to estimate whether your fetus is at higher risk or lower risk of having a certain condition," explains ACOG. A "normal" NIPT result doesn't guarantee a healthy baby, and an "abnormal" result doesn't mean your baby has a certain condition.

That said, when testing for the major conditions (see below), the NIPT test is very accurate – especially if you get a negative result.

For example, when testing for Trisomy 21 (Down syndrome), the negative result accuracy of the test is 99.5%. If you get a negative result, there's less than a 1% chance that your baby has Down syndrome.

For Trisomy 18, the negative result accuracy is 97.7%, and for Trisomy 13 it's 96.1%. If you get a negative result for these conditions, there's a high likelihood that the test is correct and you can feel fairly confident that you don't need any further testing.

If you get a positive result, however, the accuracy is less reliable. That means you could get a "false positive" result that would be concerning and might lead you to have additional testing. For Trisomy 21, the chance of a positive result being correct ranges from 33% to 83%. (The accuracy range is a bit lower for Trisomy 18 and Trisomy 13.) You're more likely to get a false positive if you're at low risk of having a baby with a chromosomal condition.

Amniocentesis and CVS are the only two tests used to diagnose Down syndrome and other chromosomal conditions prenatally, so if NIPT indicates a possible problem, experts recommend these tests.

Occasionally (from 1% to 5% of the time) a test doesn't yield a result, perhaps because of insufficient fetal DNA in the sample taken.

The NIPT may not yield a result for you if you:

• Are obese (have a BMI of 30 or higher)
• Are pregnant with multiples
• Are pregnant as a result of IVF
• Are taking certain blood thinners

Your provider can review your options with you if this happens. You may want to retake the test later, for example, or your doctor may recommend amnio or CVS.

How does the NIPT test work?

For NIPT you have blood drawn, and your blood sample is sent to a lab for analysis. The test counts fragments of DNA from your placenta that's circulating in your blood, so it contains cells from both you and your pregnancy. These fragments are free-floating rather than within cells, so they're called cell-free DNA.

By examining the chromosomes (the part of cells that contain genes), doctors can tell if your baby is more likely to have certain disorders. There are normally two copies of a chromosome. If one of the pairs has an extra chromosome, it's called a trisomy. For example, Down syndrome is also called trisomy 21 because there's an extra copy of chromosome 21.

With all this examining of chromosomes, NIPT can also tell you your baby's sex. Make it clear to your provider whether you want this information revealed to you when you get your results.

It usually takes a week or two to get NIPT results.

What does NIPT screen for?

The major conditions NIPT screens for are:

• Trisomy 21 (Down syndrome)
• Trisomy 18 (Edwards syndrome)
• Trisomy 13 (Patau syndrome)
• Common sex chromosome conditions, such as Klinefelter syndrome and Turner syndrome

  I think it's important to understand if there's a potential problem with the baby so they can receive the best care immediately.

  - BabyCenter Community mom AngryLittleGoat

Some labs may screen for a few other conditions as well, if you choose. In many cases, the results of these tests are much less accurate than those for the conditions listed above – so if you're concerned about the conditions below, you may prefer to have an amnio or CVS.

Added tests may include:

• Trisomy 16
• Trisomy 22
• Triploidy
• Sex chromosome aneuploidy
• Certain disorders caused by a small chromosomal deletion (microdeletion syndrome)
• Certain single-gene disorders

Conditions not screened for by NIPT include:

• Neural tube defects
• Heart defects
• Abdominal wall defects
• Many other chromosomal and genetic disorders

Again, NIPT only screens for some chromosomal conditions. CVS and amnio, on the other hand, can diagnose almost all chromosomal abnormalities. They can also be used to check for any of several hundred genetic disorders, such as cystic fibrosis.

NIPT may also be used to check Rh blood type. Rh is a protein found in red blood cells. If you have the protein, you're considered Rh positive. If you don't, you're Rh negative. If you're Rh negative and your unborn baby is Rh positive, your body's immune system may attack your baby's blood cells. If you find out you're Rh negative, you'll receive a RhoGAM shot to prevent your body from making antibodies against your baby's Rh-positive blood.

How much does NIPT cost?

The cost of NIPT varies a great deal, depending on where you live, which test you use, which lab does the testing, and your insurance coverage. Be sure to ask your insurance provider if they cover the cost of NIPT in whole or in part.

Some insurance providers will only cover the test if you're considered high risk for having a baby with a chromosomal problem. Others consider it routine prenatal coverage and will cover it in full or in part.

BabyCenter Community member taylerg23 says she was low risk, so her insurance wouldn't cover the NIPT test. She wound up paying $600 out of pocket.

If you're without insurance coverage, out-of-pocket costs for NIPT can run from several hundred to several thousand dollars. Some manufacturers offer reduced pricing for those who qualify for their financial hardship discount. Ask the billing department at your doctor's office for help, if you think you may qualify.