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Human Reproduction Update Advance Access originally published online on November 29, 2004
Human Reproduction Update 2005 11(1):59-67; doi:10.1093/humupd/dmh053
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Human Reproduction Update vol. 11 no. 1 © European Society of Human Reproduction and Embryology 2004; all rights reserved

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

Farideh Z. Bischoff1,4, Dorothy E. Lewis2 and Joe Leigh Simpson1,3

Departments of 1 Obstetrics and Gynecology,2 Immunology and3 Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA

4 To whom correspondence should be addressed at: Department of Obstetrics and Gynecology, Baylor College of Medicine, 6550 Fannin Street, Suite 885, Houston, TX 77030, USA. Email: bischoff{at}bcm.tmc.edu

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.

Key words: apoptosis / apoptotic bodies / fetal DNA in maternal plasma / non-invasive prenatal diagnosis / quantitative PCR


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