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Cell-Free Fetal DNA and its Significance in Prenatal Diagnosis

Etienne Mallet

The field of prenatal diagnosis has revolutionized the way we perceive and manage the pregnancy. The traditional methods such as ultrasound, amniocentesis, and chorionic villus sampling have been the gold standard for decades. However, these methods are invasive and carry a risk of fetal loss, making them a less desirable choice for some women. The discovery of cell-free fetal DNA (cffDNA) in maternal plasma has opened up new possibilities for non-invasive prenatal diagnosis. CffDNA is the small fraction of DNA that originates from the fetus and circulates in the maternal blood. During pregnancy, the fetus sheds its DNA into the maternal bloodstream through the placenta, which is then detectable in the maternal plasma. This DNA is present in very low concentrations and constitutes only 3%-13% of the total cell-free DNA in the maternal plasma. However, with the advent of advanced technologies, it is now possible to detect and analyze cffDNA in maternal blood samples.