Fetal cell-free DNA (cffDNA)

Fetal cell-free DNA (cffDNA) refers to short fragments of fetal-derived DNA that circulate freely in maternal plasma during pregnancy. It originates primarily from the apoptosis of syncytiotrophoblasts in the placenta rather than the fetus itself [Lo et al., Lancet 1997]. First discovered in 1997, cffDNA has revolutionized prenatal medicine as the central analyte in non-invasive prenatal testing (NIPT), enabling the screening of fetal chromosomal abnormalities such as Trisomy 21, 18, and 13 with high sensitivity and specificity [NIH: MedlinePlus]. While not a therapeutic target for drug development, cffDNA serves as a critical biomarker for fetal health and maternal-fetal complications. Its concentration, or 'fetal fraction,' is a key metric for diagnostic reliability, and its rapid clearance from maternal circulation after birth ensures that results reflect the current pregnancy only [Clinical Chemistry, 2013]. Research also suggests that elevated cffDNA levels may predict pathological states such as preeclampsia and preterm labor [PubMed: 20132338].

Other names

Cell-free fetal DNAcfDNAPlacental cell-free DNAFetal-derived cell-free DNA

Not applicable; cffDNA is a diagnostic analyte used for maternal-fetal screening rather than a therapeutic target for pharmacological modulation.