What is NIPT (Non-Invasive Prenatal Testing)?
Updated on January 29, 2025
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What is NIPT (Non-Invasive Prenatal Testing)?

Non-Invasive Prenatal Testing (NIPT), also known as cell-free DNA testing, is a blood test performed during pregnancy to screen for genetic abnormalities in the fetus.

NIPT aims to screen and diagnose any chromosomal disorders before the baby is born. This gives the parents a better idea of what the pregnancy will be like and helps them make informed decisions about how to proceed.

What is NIPT (Non-Invasive Prenatal Testing)? 3

Because itโ€™s non-invasive, many pregnant women opt for it. It can give them some peace of mind early on in the pregnancy and let them know about any genetic disorders they have to prepare for.

How Does NIPT Work?

NIPT is a low-risk screening test performed between the 10th and 14th weeks of pregnancy. However, some women can have it done as early as the 9th week.

Itโ€™s a simple blood test done on the mother to examine the small fragments of fetal DNA in her bloodstream. The sample can then be investigated for any increased risk of chromosomal abnormalities, such as Down syndrome and other genetic disorders.

Once your screening test shows that your baby may inherit a genetic condition, you may want to do further testing to be sure. 

What is NIPT (Non-Invasive Prenatal Testing)? 4

What Does NIPT Test For?

NIPT commonly tests for:

  • Down syndrome (trisomy 21)
  • Edwards syndrome (trisomy 18)
  • Patau syndrome (trisomy 13)

NIPT can also screen disorders that affect sex chromosomes (X and Y), as well as microdeletions. With the information you get from NIPT, you can order follow-up diagnostic tests if needed.

How Accurate is NIPT?

The NIPT is accurate in detecting Down syndrome, Patau syndrome, and even Edwards syndrome at 97 to 99%.

With rarer congenital disorders, however, accuracy does drop a little and will require other prenatal tests.

Keep in mind that genetic testing may produce false positives, so itโ€™s important to do repeat tests for safety and peace of mind.

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Why Should You Get a NIPT?

NIPT has become massively helpful in informing parents about potential birth defects. Learning about these potential birth defects can also help parents prepare for their childโ€™s special needs.

It can detect birth defects, chromosomal abnormalities, and even uncommon congenital abnormalities. While itโ€™s not a required test, Itโ€™s always helpful to learn more about your baby. 

Additionally, the test poses no risk to the fetus or mother. Studies show that NIPT produces fewer false positives than standard screening. 

What Happens if NIPT Results Are Positive?

Any reports of increased risk for Down syndrome or any chromosomal difference should be followed by confirmatory tests, such as:

  • Amniocentesis โ€“ A prenatal test that collects amniotic fluid from the womb to determine your babyโ€™s health.
  • Chorionic Villus Sampling (CVS) โ€“ A needle collects placental cells that match the babyโ€™s, given itโ€™s the same fertilized egg. It is then directly tested.

A genetics specialist will give you guidance and support around follow-up tests or procedures. Theyโ€™ll also tell you what the results could mean for your baby and pregnancy.

Remember that a high-risk positive result does not immediately mean your baby definitively has a chromosomal difference. It means that your baby has a high risk of developing one.

To get a definitive answer, coordinate with your doctor or genetic counselor.

How Much Does NIPT Cost?

The cost of an NIPT depends on the hospital or healthcare facility where you got it done. But it typically ranges between $800 to $2000.

Fortunately, most health insurance companies will cover genetic tests. However, the coverage will depend on their individual guidelines, so consult with your insurance provider first.

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.

NIPT vs. Other Prenatal Screening Tests

Hereโ€™s how NIPT compares to other screening tests.

NIPTFirst Trimester ScreeningNuchal Translucency
Test typeSimple blood test (mother)Fetal ultrasound and blood testsUltrasound measuring fluid
Tests forGenetic conditions (like Down syndrome, etc.)Genetic conditions (like Down syndrome, etc.)Genetic conditions (like Down syndrome, etc.)
AccuracyVaries, 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 to 5%Varies, but generally has a 70% accuracy rate and a false positive rate of 5%

What Are the Limitations of a NIPT?

The NIPT is a screening test, not a diagnostic test. It can only determine whether a person may inherit a genetic disorder.

On the other hand, a diagnostic test is much more definitive and can confirm a diagnosis when a patient is showing symptoms.

Additionally, not all NIPT tests screen for the same conditions. Some may include additional chromosomal abnormalities or microdeletions.

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Updated on January 29, 2025
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6 sources cited
Updated on January 29, 2025
  1. Norton et al. โ€œCell-free DNA Analysis for Noninvasive Examination of Trisomy.โ€ New England Journal of Medicine, 2015.
  2. Bianchi et al. โ€œSequencing of Circulating Cell-free DNA during Pregnancy.โ€ New England Journal of Medicine, 2018.
  3. Bellefonds, C. โ€œNoninvasive Prenatal Testing (NIPT).โ€ What to Expect, 2022.
  4. โ€œHigh Risk NIPT Results.โ€ Prenatal Screening Ontario.
  5. Jayashankar et al. โ€œNon-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions.โ€ Diagnostics (Basel), 2023.
  6. Carbone et al. โ€œNon-Invasive Prenatal Testing: Current Perspectives and Future Challenges.โ€ Genes (Basel), 2020.
Angela Natividad
Angela Natividad
Content Contributor
Angela is a full-time digital content manager and editor for Know Your DNA. She also contributes freelance articles to several local and international websites when she has the time. She's always been a voracious believer in finding the truth and ensuring the science is sound.