Overview

Prenatal cell-free DNA (cfDNA) screening, also known as noninvasive prenatal screening, is a method to screen for certain chromosomal abnormalities in a developing baby.

During prenatal cell-free DNA screening, DNA from the mother and fetus is extracted from a maternal blood sample and screened for the increased chance for specific chromosome problems, such as Down syndrome, trisomy 13 and trisomy 18. This screening can also provide information about fetal sex and rhesus (Rh) blood type.

Prenatal cell-free DNA screening is recommended for women who are at least 10 weeks pregnant and have adequate counseling regarding the options, benefits and limits of first and second trimester screening. Your health care provider or a genetic counselor will discuss whether prenatal cell-free DNA screening might benefit you and how to interpret the results.

July 29, 2017
References
  1. AskMayoExpert. Prenatal cell-free DNA screening. Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2016.
  2. American College of Obstetricians and Gynecologists Committee on Genetics and the Society for Maternal-Fetal Medicine. Committee Opinion No. 640: Cell-free DNA screening for fetal aneuploidy. Obstetrics & Gynecology. 2015;126:e31.
  3. Allyse M, et al. Non-invasive prenatal testing: A review of international implementation and challenges. International Journal of Women's Health. 2015;7:113.
  4. Society for Maternal-Fetal Medicine Publications Committee. #36: Prenatal aneuploidy screening using cell-free DNA. American Journal of Obstetrics and Gynecology. 2015;212:711.
  5. Prenatal cell-free DNA screening. National Society of Genetic Counselors. http://www.acog.org/Resources-And-Publications/Endorsed-Documents. Accessed Jan. 18, 2017.
  6. Palomaki GE, et al. Prenatal screening for common aneuploidies using cell-free DNA. http://www.uptodate.com/home. Accessed Jan. 17, 2017.
  7. Gregg AR, 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. 2016;18:1056.