Cell-Free Fetal DNA (cffDNA) Test

Cell-Free Fetal DNA (cffDNA) Test
Prenatal cell-free DNA screening, noninvasive prenatal screening

This test is performed for pregnant women, to assess the risk of your developing baby (fetus) having certain chromosome disorders.

Pregnant women are asked to get it during or after the 10th week of pregnancy.

Cell-free fetal DNA (cffDNA) is genetic material that is released by the placenta and circulates in a woman's blood during pregnancy. CffDNA generally reflects the genetic makeup of the developing baby (fetus). Cell-free fetal DNA prenatal screening, called non-invasive prenatal screening (NIPS) by some, detects defects in fetal DNA after it is purified from the pregnant woman's blood.

CffDNA is present in a pregnant woman's blood in small quantities starting in the first trimester and increases throughout pregnancy. The cffDNA test is a relatively new, non-invasive method of screening that can be performed as early as the tenth week of pregnancy for women.

The test can identify chromosome disorders in a developing baby, including the presence of extra chromosomes (trisomies) such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). The extra genetic material present in these conditions affects the development of the baby and causes characteristic signs, symptoms, and complications.

Down syndrome is the most common of the three trisomies detected by cffDNA testing and varies significantly in severity from person to person. Edwards syndrome and Patau syndrome are more rare and more severe, with most affected babies dying within weeks to months of birth. This test may be used to identify other rare conditions resulting from an extra chromosome or missing piece of chromosome (microdeletion).

CffDNA testing can also detect an extra sex chromosome. One example is Klinefelter syndrome, resulting from two X chromosomes and one Y chromosome.

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