Prenatal cell-free DNA (cfDNA) screening, also known as noninvasive prenatal screening, is a method to screen for certain specific 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 to screen for the increased chance for specific chromosome problems, such as Down syndrome. 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.

Feb. 23, 2016
  1. AskMayoExpert. Prenatal cell-free DNA screening. Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2015.
  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. Prenatal cell-free DNA screening: Q&A for healthcare providers. National Society of Genetic Counselors. http://nsgc.org/page/non-invasive-prenatal-testing-healthcare-providers. Accessed Jan. 6, 2016.
  5. Prenatal cell-free DNA screening. National Society of Genetic Counselors. http://www.acog.org/Resources-And-Publications/Endorsed-Documents. Accessed Jan. 6, 2016.
  6. Society for Maternal-Fetal Medicine Publications Committee. #36: Prenatal aneuploidy screening using cell-free DNA. American Journal of Obstetrics and Gynecology. 2015;212:711.

Prenatal cell-free DNA screening