Noninvasive prenatal testing

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Definition

By Mayo Clinic staff

Noninvasive prenatal testing (NIPT), also known as noninvasive prenatal diagnosis (NIPD), is a screening method for detecting certain specific chromosomal abnormalities in a developing baby.

Noninvasive prenatal testing is a sophisticated blood test that examines fetal DNA in the maternal bloodstream to determine whether your baby is at risk of Down syndrome, extra sequences of chromosome 13 (trisomy 13), extra sequences of chromosome 18 (trisomy 18) or a sex chromosome abnormality, such as Turner syndrome. The testing can also be used to determine a baby's sex and rhesus (Rh) blood type.

Currently, noninvasive prenatal testing is only available for women who have certain risk factors.

Noninvasive prenatal testing might help you avoid other tests that might put your pregnancy at risk. Your health care provider or a genetic counselor will discuss whether noninvasive prenatal testing might benefit you and how to interpret the results.

Why it's done
References
  1. National Society of Genetic Counselors Public Policy Committee, et al. Noninvasive prenatal testing/noninvasive prenatal diagnosis: The position of the National Society of Genetic Counselors. National Society of Genetic Counselors. http://www.nsgc.org/Advocacy/PositionStatements/tabid/107/Default.aspx. Accessed Dec. 7, 2012.
  2. Allyse M, et al. Cell-free fetal DNA testing for fetal aneuploidy and beyond: Clinical integration challenges in the US context. Human Reproduction. 2012;27:3123.
  3. Wright CF, et al. Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis. BMC Research Notes. 2012;5:476.
  4. Devaney SA, et al. Noninvasive fetal sex determination using cell-free fetal DNA: A systematic review and meta-analysis. Journal of the American Medical Association. 2011;306:627.
  5. Chiu RWK, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: Large scale validity study. British Medical Journal. 2011;342:c7401.
  6. Shulman LP. One small step and one giant leap for noninvasive prenatal screening: An editorial. American Journal of Obstetrics and Gynecology. 2011;204:183.
  7. Ehrich M, et al. Noninvasive detection of trisomy 21 by sequencing of DNA in maternal blood: A study in a clinical setting. American Journal of Obstetrics and Gynecology. 2011;204:205e1.
  8. Palomaki GE, et al. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genetics in Medicine. 2011;13:913.
  9. Frequently asked questions. Pregnancy FAQ133. Routine tests in pregnancy. American College of Obstetrics and Gynecology. http://www.acog.org/~/media/For%20Patients/faq133.pdf?dmc=1&ts=20121207T1430460501. Accessed Dec. 7, 2012.
  10. Down syndrome overview. National Institute of Child Health & Human Development. http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx. Accessed Dec. 7, 2012.
  11. Sehnert AJ, et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clinical Chemistry. 2011;57:1042.
  12. What is Down syndrome? National Down Syndrome Society. http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/. Accessed Dec. 7, 2012.
  13. Diagnostic tests for birth defects. American College of Obstetrics and Gynecology. http://www.acog.org/Resources_And_Publications/Patient_Education_Pamphlets/Files/Diagnostic_Tests_for_Birth_Defects. Accessed Dec. 7, 2012.
  14. Rijinders RJP, et al. Clinical applications of cell-free fetal DNA from maternal plasma. Obstetrics and Gynecology. 2004;103:157.
  15. Wick Myra J (expert opinion). Mayo Clinic, Rochester, Minn. Dec. 22, 2012.
  16. The American College of Obstetricians and Gynecologists Committee on Genetics and the Society for Maternal-Fetal Medicine Publications Committee. Committee Opinion No. 545: Title of committee opinion. Obstetrics & Gynecology. 2012;120:1532.
MY02238 Feb. 23, 2013

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