Prenatal tests are no 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 just a blood draw, NIPT can reveal your baby’s gender and give you useful information about your baby’s chances of having a chromosomal disorder.
Key Takeaways
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NIPT (non-invasive prenatal testing) screening for chromosomal conditions. It can also tell you the gender of your baby.
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The test works by examining small fragments of DNA that are released from your placenta into your bloodstream.
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It is perfectly safe for you and your baby.
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But because it is a screening test, NIPT cannot give you definitive results.
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What is NIPT?
NIPT (non-invasive prenatal testing) is a blood test used to screen for Down syndrome and several other chromosomal conditions. It is also known as a cell-free DNA (cfDNA) screen, as it tests the small amount of DNA that is released from the placenta into the mother’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 tests do the same thing. Brands include Harmony Test, Panorama Test, Materni T21, and Vistara Single-Gene NIPT. Your doctor or genetic counselor can help you decide what’s best for you, depending on the condition you want your baby to be screened for.
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“As a screening test, nothing beats NIPT,” says Layan Alrahmani, MD, a board-certified gynecologist and member of BabyCenter’s medical advisory board.
Advantages of NIPT
NIPT is a simple procedure that provides a lot of useful information.
As a screening test, nothing beats NIPT.
– Layan Alrahmani, MD, board certified specialist in gynecology and maternal-fetal medicine
There are several good reasons why this is such a popular test:
- It is not invasive. A simple blood draw at your regular prenatal check-up is all you need.
- It is perfectly safe for you and your baby and carries none of the potential risks of some other tests. (Amniocentesis and chorionic villus sampling (CVS) carry a small risk of miscarriage, for example.)
- Although you’ll need follow-up testing to confirm positive results, negative results provide a high degree of accuracy—and certainty—for several conditions.
- It is available very early in pregnancy, at 10 weeks
- It is available until delivery
- Results are obtained quickly (within a few weeks, often sooner)
- If you want to know, a test can tell you whether you’re having a girl or a boy
Although it is offered to all women, not all benefit from NIPT. Some worry that a false positive could cause unnecessary worry and stress, while others say that because they will have a baby regardless of the test results, there is little reason to have one.
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“I have two children, 4 and 2.5 years old, and I’ve never finished either of them,” she 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 is a potential problem with the baby so that they can get the best care right away from a care team that is prepared for their specific problem,” says Community Member AngryLittleGoat.
Some women at higher risk of having a baby with a chromosomal disorder may find negative NIPT results very reassuring. This includes women over 35, women who have had another baby with a chromosomal disorder, and women with worrying results on other prenatal tests.
Is the NIPT test accurate?
NIPT is accurate, but keep in mind that it is a screening test, not a diagnostic test. This means that the results cannot say for sure whether your baby has the chromosomal condition or not.
“Screening tests are used to assess whether your fetus is at higher or lower risk for a particular condition,” ACOG explains. A “normal” NIPT result does not guarantee a healthy baby, and an “abnormal” result does not mean your baby has a particular condition.
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However, when testing for the main 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 accuracy of a negative test result is 99.5%. If you get a negative result, there is less than a 1% chance that your baby has Down syndrome.
For trisomy 18, the accuracy of a negative result is 97.7%, and for trisomy 13 it is 96.1%. If you get a negative result for these conditions, there’s a good chance the test is correct and you can feel pretty confident that you don’t need further testing.
However, if you get a positive result, the accuracy is less reliable. This means you could get a “false positive” result which would be worrying and could prompt you to get further testing. For trisomy 21, the chance of a positive result being correct ranges from 33% to 83%. (The range of accuracy is slightly lower for trisomy 18 and trisomy 13.) You are more likely to get a false positive if you are at low risk of having a child with the 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.
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Occasionally (1% to 5% of the time) the test does not produce a result, possibly due to insufficient fetal DNA in the sample taken.
NIPT may not produce a result for you if:
- You are obese (have a BMI of 30 or higher)
- Multiple pregnancies
- Are you pregnant as a result of IVF
- You are taking certain blood thinners
Your provider can review your options with you if this happens. You may want to do the test again later, for example, or your doctor may recommend an amnio or CVS.
How does the NIPT test work?
For NIPT, your blood is drawn and your blood sample is sent to a laboratory for analysis. The test counts DNA fragments from your placenta that circulate in your blood, so it contains cells from you and your pregnancy. These fragments are free-floating and not inside cells, so they are called cell-free DNA.
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By examining the chromosomes (the part of cells that contain genes), doctors can determine whether your baby is more likely to have certain disorders. There are usually two copies of a chromosome. If one of the pairs has an extra chromosome, it is called a trisomy. For example, Down syndrome is also called trisomy 21 because there is an extra copy of chromosome 21.
Along with all this chromosome testing, NIPT can also tell you the gender of your baby. Make it clear to your provider whether you want this information disclosed to you when you receive your results.
It usually takes a week or two to get NIPT results.
What does NIPT screen for?
The main requirements for NIPT screens 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 is a potential problem with the baby so that she gets the best care right away.
– BabyCenter Community mom AngryLittleGoat
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Some labs can screen for several 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.
Additional tests may include:
- Trisomy 16
- Trisomy 22
- Triploidy
- Aneuploidy of sex chromosomes
- Certain disorders caused by small deletions of chromosomes (microdeletion syndrome)
- Certain single gene disorders
Conditions no which NIPT reviews include:
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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 screen for any of several hundred genetic disorders, such as cystic fibrosis.
NIPT can also be used to check Rh blood type. Rh is a protein found in red blood cells. If you have the protein, you are considered Rh positive. If not, then you are Rh negative. If you are Rh negative and your unborn baby is Rh positive, your body’s immune system may attack your baby’s blood cells. If you discover that you are Rh negative, you will be given a RhoGAM injection to prevent your body from making antibodies against your baby’s Rh-positive blood.
How much does NIPT cost?
NIPT costs vary widely, depending on where you live, which test you use, which lab performs the test, and your insurance. Be sure to ask your insurance provider if they cover the cost of NIPT in full or in part.
Some insurance providers will only cover the test if you are considered at high risk of having a baby with a chromosomal problem. Others consider it routine prenatal coverage and 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 ended up paying $600 out of pocket.
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If you don’t have insurance, out-of-pocket costs for NIPT can range from several hundred to several thousand dollars. Some manufacturers offer discounted prices for those who qualify for a hardship discount. Ask the billing department at your doctor’s office for help if you think you qualify.