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Non-Invasive Prenatal Testing (NIPT), also known as cell-free DNA testing, is a blood test done during pregnancy that screens for genetic abnormalities in the fetus.
NIPT aims to screen and diagnose any chromosomal disorders before the baby is born in order to give the parents a better idea of what their pregnancy will look like. This allows parents to make better-informed decisions about how to proceed and prepare for their baby.
Because it’s non-invasive, many pregnant women who want to learn more about their baby opt for it. Not only do they get a glimpse into potential genetic disorders they have to ready themselves for, but they can also have some peace of mind early on in the pregnancy.
Genetic tests are a great way to determine any potential for chromosomal disorders.
NIPT is a low-risk screening test done on pregnant women anywhere between the 10th to 14th week of pregnancy—although some have it done even as early as the 9th.
A simple blood test is done on the mother, as there will already be small fragments of fetal DNA in the mother’s bloodstream. This blood sample can then be investigated to identify any increased risk of chromosomal abnormality, such as Down syndrome and other genetic disorders.
As a test, it’s appealing to many expectant mothers because you can avoid testing directly on the fetus altogether and still get worthwhile insights on potential birth defects. Many pregnant women opt-in given that it’s not as threatening as other forms of testing.
Take note, however, that NIPT is a screening test and not a diagnostic test.
A screening test, like NIPT, can only determine the possibility of inheriting genetic disorders. Diagnostic testing is much more definitive and can confirm a diagnosis when a patient is showing symptoms.
Once your screening test shows that your baby may inherit a genetic condition, you may want to do further testing to be sure.
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NIPT commonly tests for:2
NIPT can also screen disorders that affect sex chromosomes (X and Y), as well as microdeletions.3
With the information you get from NIPT, you can order follow-up diagnostic tests if needed.
NIPT has an accuracy rate of 97-99% when detecting Down syndrome, Patau syndrome, and even Edwards syndrome.4
With rarer congenital disorders, however, accuracy does drop a little and will require other prenatal tests.
Please note that genetic testing may produce false positives, so repeat tests for safety and peace of mind are possible.
NIPT is important because it equips you with helpful information that can lead to better decision-making for your child.
It’s important to determine an increased risk for any genetic condition to prepare for any special needs your child will have.
While it’s not a required test, it’s helpful for any parent to learn more about their baby. Once you know the possibility of your child inheriting Down syndrome, Patau syndrome, or any other chromosomal abnormality, you can make appropriate arrangements for their future.
Not only that, but a NIPT test is also:
NIPT has become massively helpful in determining potential chromosomal differences. It’s been revolutionary in empowering parents to make smarter decisions without having to resort to invasive measures thanks to its cell free DNA screening.
You can schedule a blood test for NIPT screening as early as the first trimester. 10-14 weeks is the ideal time; however, some mothers can even get tested at 9 weeks.
Consult your healthcare provider for the most accurate timeline that fits your circumstances.
While it is possible to determine your baby’s sex via NIPT, it really is mostly used to determine chromosomal abnormalities. Your baby’s sex can be determined in other ways.
Doctors recommend waiting until weeks 19-20 to identify your baby’s sex, usually via ultrasound.
Any reports of increased risk for Down syndrome or any chromosomal difference should be followed by confirmatory tests, such as:
A genetics specialist will give you guidance and support around follow-up tests or procedures and what they could mean for your pregnancy and your baby.
Remember that a high-risk positive result does not immediately mean your baby definitively has a chromosomal difference.5 It means that your baby has a high risk of developing one. To get a definitive answer, coordinate with your doctor or genetic counselor.
NIPT is totally non-invasive and poses no risk to the fetus. It requires a routine blood test, which is low-risk in itself, only for the mother.
Cost generally depends on the hospital or healthcare facility you have NIPT done in, but it can range between $800-$2000.
Most health insurance companies will cover genetic tests like NIPT, although it will depend on their individual guidelines. Consult with your insurance provider first to be sure.
Other less specific and more common tests are more likely to be covered by insurance. Diagnostic tests also vary in terms of cost and coverage.
Here’s how NIPT compares to other screening tests.
| NIPT | First Trimester Screening | Nuchal Translucency | |
| Test type | Simple blood test (mother) | Fetal ultrasound and blood tests | Ultrasound measuring fluid |
| Tests for | Genetic conditions (like Down syndrome, etc.) | Genetic conditions (like Down syndrome, etc.) | Genetic conditions (like Down syndrome, etc.) |
| Accuracy | Varies, but generally has an 80-90% accuracy rate and a false positive rate of 5% | Varies, but generally has upwards of a 96% accuracy rate and a false positive rate of 1-5% | Varies, but generally has a 70% accuracy rate and a false positive rate of 5% |
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