NIPT Test

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What is the NIPT test?

NIPT stands for noninvasive prenatal testing. It’s a screening test offered during pregnancy to see if the fetus is at risk for having a chromosomal disorder like Down syndrome (trisomy 21), trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome). The test can also determine the sex of the fetus. It’s done by taking a sample of your blood, which also contains fragments of DNA from the fetus. DNA makes up a person’s genes and chromosomes, and gives healthcare providers a glimpse into the fetus’s genetic makeup. The blood sample is sent to a lab and analyzed for specific congenital disorders. NIPT can’t screen for all chromosomal or genetic conditions.

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The NIPT test is also called cell-free DNA (cfDNA) screening or noninvasive prenatal screening (NIPS). It’s important to remember that a screening test estimates the likelihood of the fetus having a particular condition. It doesn’t diagnose a condition. NIPT testing is optional. Your healthcare provider will provide information about prenatal genetic testing and help you make an informed choice about your options.

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What does the NIPT test screen for?

NIPT doesn’t test for all chromosomal conditions or birth disorders. Most NIPT tests screen for:

Down syndrome (trisomy 21).
Trisomy 18.
Trisomy 13.
Disorders affecting sex chromosomes (X and Y).

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An extra chromosome causes Down syndrome, trisomy 18 and trisomy 13. Screening for sex chromosomes can help predict the sex of the fetus and can also screen for differences in the usual number of sex chromosomes. The most common sex chromosome conditions are Turner syndrome, Klinefelter syndrome, Triple X syndrome and XYY syndrome. Not all NIPT panels evaluate for the same conditions. It’s important to talk to your healthcare provider about what your NIPT is screening for.

Why is noninvasive prenatal testing done?

Noninvasive prenatal testing helps determine the fetus’s chances of being born with certain chromosomal disorders. Healthcare providers may recommend it if you:

Have a child with a chromosomal abnormality.
Have had an ultrasound that shows that the fetus may have an abnormality.
Have had an earlier screening test that suggests a potential problem.

The American College of Obstetricians and Gynecologists (ACOG) used only to recommend NIPT for pregnant people considered high risk. However, it’s now recommended that providers offer NIPT to all pregnant people, regardless of risk.

Based on the results of the NIPT test, your obstetrician may recommend diagnostic tests. Diagnostic tests give a definitive answer about whether the fetus has a specific condition.

When should the NIPT test be done in pregnancy?

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NIPT testing can be done as early as 10 weeks of pregnancy through delivery. There’s typically not enough fetal DNA in a pregnant person’s blood before 10 weeks of pregnancy.

How accurate are NIPT tests?

The accuracy of the test varies by the condition that it’s checking for. Other factors — like being pregnant with multiples, being a surrogate or having obesity — can affect NIPT results.

NIPT is about 99% accurate in detecting Down syndrome. The test is slightly less accurate for detecting trisomy 18 and 13. Overall, NIPT tests produce fewer false positives than other prenatal screenings like the quad screen.