NIPT can tell you about the chance for certain chromosomal conditions in your baby with just a blood draw
NIPT (non-invasive prenatal testing) or NIPS (non-invasive prenatal screening) looks at fragments of DNA (cell-free DNA or cfDNA) in your blood during pregnancy to provide accurate information about the likelihood of chromosomal conditions such as trisomy 21 (Down syndrome), trisomy 18, and trisomy 13 as early as 10 weeks of pregnancy.
How accurate is NIPT?
cfDNA-based NIPT is recognized as the most sensitive screening option for trisomy 21 (Down syndrome), trisomy 18, and trisomy 13.1 NIPT can have a detection rate for Down syndrome of greater than 99%2,5. Actual performance can depend on the NIPT used.
Who should consider NIPT?
All pregnant women regardless of age or risk should be informed that cfDNA-based NIPT is the most sensitive screening option for trisomy 21, trisomy 18 and trisomy 13.1,3
Clear answers to your questions
All About NIPT
Dr. Liza Kunz, maternal-fetal medicine specialist, explains how NIPT can tell you about the chance for certain chromosomal conditions.
Melissa’s Journey
A simple blood draw, fast results, and confidence are why Melissa chose NIPT over prenatal screening tests that have higher false-positive rates.
What are the differences between NIPT and diagnostic tests?
NIPT Screening Tests
- Evaluate the chance for certain conditions in a pregnancy
- Safe and pose no risk to the pregnancy
- Are followed by additional testing if a diagnosis is desired
- Performed as early as 10 weeks of pregnancy
Prenatal Diagnostic Tests
- Can diagnose and/or rule out certain conditions in pregnancy
- More definitive and comprehensive than prenatal screening tests
- Invasive and may pose a risk of pregnancy loss4
- Performed at 10-13 weeks (chorionic villus sampling) or 15-20 weeks (amniocentesis) of gestation
How can I get an NIPT?
Talk to your healthcare provider about your prenatal testing options.
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Only women over 35 or women with a family history of chromosomal conditions can benefit from NIPT.
That is not correct!
The American College of Medical Genetics and Genomics (ACMG) recommends that doctors inform all pregnant women regardless of age or risk about the fact that cell-free DNA-based NIPT is the most sensitive screening option for trisomy 21, trisomy 18 and trisomy 13.1 The International Society for Prenatal Diagnosis (ISPD) considers NIPT as appropriate to be offered to all pregnant women as a primary screening test.3
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That is Correct!
The American College of Medical Genetics and Genomics (ACMG) recommends that doctors inform all pregnant women regardless of age or risk about the fact that cell-free DNA-based NIPT is the most sensitive screening option for trisomy 21, trisomy 18 and trisomy 13.1 The International Society for Prenatal Diagnosis (ISPD) considers NIPT as appropriate to be offered to all pregnant women as a primary screening test.3
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Traditional first trimester screening tests take a blood draw just like NIPT and are just as accurate.
That is not correct!
Traditional first trimester screening has a detection rate for Down syndrome of about 80%, whereas some NIPT tests can detect more than 99%.2,5 Traditional screening will also provide a “false positive” result to 1 in 20 women- incorrectly identifying the pregnancy as having a high chance for Down syndrome.¹ The false-positive rate for some NIPT tests is less than 1 in 1000.5
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That is Correct!
Traditional first trimester screening has a detection rate for Down syndrome of about 80%, whereas some NIPT tests can detect more than 99%.2,5 Traditional screening will also provide a “false positive” result to 1 in 20 women- incorrectly identifying the pregnancy as having a high chance for Down syndrome.2 The false-positive rate for some NIPT tests is less than 1 in 1000.5
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Prenatal diagnostic tests such as amniocentesis or chorionic villus sampling (CVS) provide definitive answers to whether a chromosomal condition is present but pose risks.
That is Correct!
Prenatal diagnostic tests are more definitive than screening tests, but are considered invasive and therefore pose a small risk for miscarrage.4
Additional Resources
That is not correct!
Prenatal diagnostic tests are more definitive than screening tests, but are considered invasive and therefore pose a small risk for miscarrage.4
Additional Resources
Additional Resources
References:
- Gregg et al. Genetics in Medicine 2016 Oct; 18(10):1056-65.
- Norton et al. New England J of Medicine. 2015; 372(17):1589-1597.
- Benn et al. Prenat Diagn. 2015; 35: 725–734.
- Norton et al. Am J Obstet Gynecol. 2012 Aug;207(2):137-8.
- Stokowski et al. Prenat Diagn. 2015 Dec;35(12):1243-6.