Cell-free fetal DNA

Cell-free fetal DNA (cffDNA) is fetal DNA that circulates freely in the maternal blood. It originates from the placenta and can be detected as early as the 5th week of pregnancy. The discovery of cffDNA has led to significant advancements in non-invasive prenatal testing (NIPT), allowing for the early detection of certain genetic conditions without the need for invasive procedures such as amniocentesis or chorionic villus sampling.

Overview

Cell-free fetal DNA is released into the maternal bloodstream through the apoptosis of placental trophoblast cells. The concentration of cffDNA increases throughout pregnancy and rapidly declines after childbirth, disappearing from the maternal circulation within hours.

Clinical Applications

The primary application of cffDNA is in non-invasive prenatal testing. NIPT can screen for chromosomal abnormalities such as Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome) with high accuracy. It can also be used to determine the Rh factor of the fetus, which is crucial in managing Rh incompatibility between the mother and fetus.

Advantages

• Non-invasive, posing no risk to the fetus
• High sensitivity and specificity for detecting certain chromosomal abnormalities
• Can be performed early in pregnancy

Limitations

• Not diagnostic; positive results require confirmation through invasive testing
• May not detect all genetic conditions or chromosomal abnormalities

Ethical Considerations

The use of cffDNA in prenatal testing raises ethical concerns, including the potential for early gender determination and the implications of detecting non-life-threatening genetic conditions. There is ongoing debate regarding the scope of testing and the management of incidental findings.

Future Directions

Research is ongoing to expand the range of conditions detectable through cffDNA analysis and to improve the accuracy of NIPT. Efforts are also being made to reduce the cost of testing, making it accessible to a broader population.

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  Cell-free fetal DNA shedding into maternal bloodstream

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  Prenatal Down syndrome screening algorithm