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Human Reproduction Update Advance Access published online on November 29, 2004
Human Reproduction Update, doi:10.1093/humupd/dmh053
Copyright © 2004 by the European Society of Human Reproduction and Embryology.
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Received July 23, 2004
Revised October 25, 2004
Accepted October 28, 2004

Review

Cell-free fetal DNA in maternal blood: kinetics, source and structure

Farideh Z. Bischoff 1*, Dorothy E. Lewis 2, and Joe Leigh Simpson 3

1 Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030 USA
2 Department of Immunology, Baylor College of Medicine, Houston, TX 77030 USA
3 Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030 USA; Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA

* To whom correspondence should be addressed.
Farideh Z. Bischoff, E-mail: bischoff{at}bcm.tmc.edu


  Abstract

The kinetics and structure of cell-free fetal DNA in maternal plasma is currently under investigation. Plasma fetal DNA seems quite stable albeit cleared rapidly following birth, suggesting continuous fetal DNA release into the maternal circulation during pregnancy. However, to understand better the kinetics of circulating DNA, studies to determine the biological (structural) form in which fetal and maternal DNA exist and the mechanisms underlying variation in plasma are warranted to ensure quantitative diagnostic reliability. It is likely that circulating fetal DNA is released from fetal and/or placental cells undergoing apoptosis. Thus, the majority of fetal DNA is proposed to circulate in membrane-bound vesicles (apoptotic bodies). This review summarizes the latest reports in this field.

Keywords: apoptosis; apoptotic bodies; fetal DNA in maternal plasma; non-invasive prenatal diagnosis; quantitative PCR.
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