Non-Invasive Prenatal Screening (NIPS)
- Also Known As:
- NIPS
- Non-Invasive Prenatal Testing
- NIPT
- Cell-Free Fetal DNA
- cffDNA
- cfDNA
- Formal Name:
- Cell-Free DNA Prenatal Screen for Fetal Aneuploidy

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.At a Glance
Why Get Tested?
For pregnant women, to assess the risk of your developing baby (fetus) having certain chromosome disorders
When To Get Tested?
During or after the 10th week of pregnancy
Sample Required?
A blood sample drawn from a vein in the mother’s arm
Test Preparation Needed?
None
What is being tested?
Non-invasive prenatal screening (NIPS) helps determine the risk that a pregnant woman’s developing baby (fetus) has a chromosome disorder. It is not a diagnostic test, meaning it cannot tell for certain whether your baby is affected or unaffected. If NIPS shows an increased risk for a specific chromosome disorder, diagnostic testing by chorionic villus sampling (CVS) or amniocentesis is recommended to establish the true diagnosis.
NIPS evaluates a type of genetic material called cell-free DNA (cfDNA) that is released by cells from the placenta and circulates in the mother’s blood during pregnancy. The cfDNA from the placenta generally reflects the genetic makeup of the developing baby (fetus). NIPS detects chromosome disorders in placental cfDNA and can be performed as early as the 10th week of pregnancy.
Although there are many similarities among various versions of NIPS, laboratories may offer opt-in or opt-out choices for things like the sex chromosomes or microdeletions. It is important to speak to your healthcare practitioner about which test is being recommended for you. NIPS may screen for:
- The presence of extra chromosomes (trisomies) such as:
- Down syndrome (trisomy 21)—Down syndrome is the most common of the three trisomies screened for by NIPS. While all individuals with Down syndrome share certain characteristics, the severity of these characteristics can vary quite broadly.
- Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13) are both less common than Down syndrome and typically much more severe. Many babies with Edwards or Patau syndrome do not survive to the first year.
- Sex chromosome disorders—some people elect to have the sex chromosomes screened to learn the anticipated sex of their baby, but there are also sex chromosome disorders, such as Turner syndrome, Klinefelter syndrome and XXX syndrome that may be identified.
- Microdeletion syndromes—although not recommended by professional guidelines, some laboratories also offer screening for a set of disorders caused by small missing segments of specific chromosomes, called microdeletion syndromes. When chromosomal segments are missing, differences in the amount of chromosomal information present alter the baby’s development and cause the features of these disorders. With the exception of DiGeorge syndrome (also called deletion 22q11.2 syndrome), the other conditions are quite rare, and the test’s ability to correctly identify microdeletions is unclear.
Common Questions
View Sources
Sources Used in Current Review
ACOG Committee Opinion 640. Cell-free DNA Screening for fetal aneuploidy. Obstet Gynecol. 2015 Sept;126:31-37 2.
ACOG Committee on Genetics: Committee Opinion No. 682. Microarrays and Next-Generation Sequencing Technology: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and Gynecology. Obstet Gynecol. 2016;128(6):1462-1463 3.
ACOG Practice Bulletin No. 163: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2016;127:123-137.
National Society of Genetic Counselors Position Statements: Prenatal Cell-Free DNA Screening. Released 10-11-16, updated 4-12-18. Available online at https://www.nsgc.org/p/bl/et/blogaid=805.
(April 29, 2016) Mark W Leach, ACOG Issues New Prenatal Testing Guidelines. Available online at https://prenatalinformation.org/2016/04/29/acog-issues-new-prenatal-testing-guidelines/ Accessed February 2020.
© 1995–2020 Mayo Clinic Laboratories. Cell-Free DNA Prenatal Screen, Blood. Available online at https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/63439. Accessed February 2020.
© 1995–2020 Mayo Clinic Laboratories. Cell-Free DNA Prenatal Screen, Autosomal Trisomy and Sex Chromosome Aneuploidy, Blood. Available online at https://www.mayocliniclabs.com/test-catalog/Overview/65518. Accessed February 2020.
© 2019 ARUP Laboratories. Non-Invasive Prenatal Testing for Fetal Aneuploidy. Available online at http://ltd.aruplab.com/Tests/Pub/2007537. Accessed February 2020.
(September 2019) American College of Obstetricians and Gynecologists. Prenatal Genetic Screening Tests. Available online at https://www.acog.org/Patients/FAQs/Prenatal-Genetic-Screening-Tests. Accessed February 2020.
Sources Used in Previous Reviews
Lewis, R. (2014 February 27). Noninvasive Prenatal DNA Test Okay for Low-Risk Pregnancies. Medscape Medical News [On-line information]. Available online at http://www.medscape.com/viewarticle/821213. Accessed March 2014.
Lewis, R. (2014 March 8). Fetal DNA Testing for Low-Risk Women Gets Mixed Reviews. Medscape Medical News [On-line information]. Available online at http://www.medscape.com/viewarticle/821690. Accessed March 2014.
(2014 March). Non-invasive Prenatal Testing for Chromosomal Abnormality using Maternal Plasma DNA. Royal College of Obstetricians and Gynaecologists Scientific Impact Paper No. 15 [On-line information]. Available online at http://www.rcog.org.uk/files/rcog-corp/SIP_15_04032014.pdf. Accessed March 2014.
(2014 March 5). SMFM Physicians Recommend NIPT for High-Risk Patients. Smfm Newsroom [On-line information]. Available online at http://www.smfmnewsroom.org/2014/03/smfm-physicians-recommend-nipt-for-high-risk-patients/. Accessed March 2014.
Bianchi, D. et. al. (2014 February 27). DNA Sequencing versus Standard Prenatal Aneuploidy Screening. N Engl J Med 2014; 370:799-808 Preview [On-line information]. Available online at http://www.nejm.org/doi/full/10.1056/NEJMoa1311037. Accessed March 2014.
(2012 August 28). Fetal fraction of cfDNA does not vary significantly among pregnant women regardless of trisomy risk. News Medical [On-line information]. Available online through http://www.news-medical.net. Accessed March 2014.
Barclay, L. (2013 June 7). Maternal Blood Test May Detect Trisomy in First Trimester. Medscape Medical News [On-line information]. Available online at http://www.medscape.com/viewarticle/805519. Accessed March 2014.
(2012 October 3). Cell-Free DNA Test Highly Accurate as Prenatal Screen. Medscape Multispecialty from Reuters Health Information [On-line information]. Available online at http://www.medscape.com/viewarticle/771926. Accessed March 2014.
Laura A. Stokowski, L. and Klugman, S. (2013 November 7). The Pros and Cons of Noninvasive Prenatal Screening. Medscape Multispecialty [On-line information]. Available online at http://www.medscape.com/viewarticle/813882. Accessed March 2014.
Walsh, J. (2012 June 20). Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing. Medscape Multispecialty from CTAF [On-line information]. Available online at http://www.medscape.com/viewarticle/773416. Accessed March 2014.
(Reviewed 2013 July). Prenatal Tests. March of Dimes [On-line information]. Available online at http://www.marchofdimes.com/pregnancy/prenatal-tests.aspx#. Accessed March 2014.
Brock, J. and Langlois, S. (2013 February). Detection of Down Syndrome, Trisomy 18, and Trisomy 13 Using Cell-Free DNA in Maternal Plasma. SOGC Clinical Practice Guidelines [On-line information]. Available online through http://sogc.org. Accessed March 2014.
Lynch, E. and Dezen, T. (2012 December 12). The Leading Edge Of Medical Innovation: New Prenatal Genetic Tests Use Mom’s Blood to Learn about Her Baby. March of Dimes [On-line information]. Available online through http://www.marchofdimes.com. Accessed March 2014.
(Reviewed 2013 November). Trisomy 13. Genetics Home Reference [On-line information]. Available online at http://ghr.nlm.nih.gov/condition/trisomy-13. Accessed April 2014.
Elshimali, Y. et. al. (2013 September 13). The Clinical Utilization of Circulating Cell Free DNA (CCFDNA) in Blood of Cancer Patients. Int J Mol Sci. Sep 2013; 14(9): 18925–18958. [On-line information]. Available online at http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3794814/. Accessed April 2014.
(December 2012) The American College of Obstetricians and Gynecologists Committee on Genetics, The Society for Maternal-Fetal Medicine Publications Committee, Noninvasive Prenatal Testing for Fetal Aneuploidy. Available online through http://www.acog.org. Accessed May 2014.
Gregg AR, Skotko, BG, Bekendorf JL, et al. Noninvasive Prenatal Screening for Fetal Aneuploidy, 2016 Update: A Position Statement of the American College of Medical Genetics and Genomics. Genetics In Medicine. Published online 28 July 2016. Available online at http://www.nature.com/gim/journal/vaop/ncurrent/full/gim201697a.html. Accessed January 10, 2017.
Genetic Support Foundation. Cell-free DNA (cfDNA) Screening. Available online at https://www.geneticsupportfoundation.org/genetics-and-you/pregnancy-and-genetics/pregnancy-and-genetics-tests/cell-free-dna-cfdna. Accessed January 2017.
(September 2016) American College of Obstetricians and Gynecologists. Prenatal Genetic Screening Tests. Available online at http://www.acog.org/Patients/FAQs/Prenatal-Genetic-Screening-Tests?IsMobileSet=false. Accessed January 2017.
(©2017) Cell-Free DNA Prenatal Screen. Mayo Medical Laboratories. Available online at http://www.mayomedicallaboratories.com/test-catalog/Specimen/63439. Accessed January 2017.
(September 2015) American College of Obstetricians and Gynecologists. Committee on Genetics Society for Maternal–Fetal Medicine, Committee Opinion No. 640. Available online at http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Cell-free-DNA-Screening-for-Fetal-Aneuploidy. Accessed January 2017.
(September 2016) Prenatal Genetic Screening Tests. American Congress of Obstetricians and Gynecologists. Available online at http://www.acog.org/Patients/FAQs/Prenatal-Genetic-Screening-Tests?IsMobileSet=false. Accessed January 2017.
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