NHGRI logo
Cell nucleus hero

Cell-Free DNA Testing

updated: May 10, 2022

Definition

Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder. For example, prenatal cell-free DNA testing is a non-invasive method used during pregnancy that examines the fetal DNA that is naturally present in the maternal bloodstream. Cell-free DNA testing is also used for the detection and characterization of some cancers and to monitor cancer therapy.



Narration

Cell-free DNA testing. Cell-free DNA testing was something that really changed many areas of clinical medicine and continues to do so. It's still a very active area of research in terms of ways to look for different types of genetic changes and in different clinical areas. Cell-free DNA testing is a great example of how genetic discoveries translate to different fields of medicine, such as the way cell-free fetal DNA is used in obstetrics practice.

Ben Solomon
Benjamin Solomon, M.D.

Clinical Director

Office of the Clinical Director