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Issue 945 coverCIRCULATING NUCLEIC ACIDS IN PLASMA OR SERUM II Copyright © 2001 by the New York Academy of Sciences
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Articles by BIANCHI, D. W.
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Articles by BIANCHI, D. W.
Articles by LO, Y. M. D.
Annals of the New York Academy of Sciences 945:119-131 (2001)
© 2001 New York Academy of Sciences

Fetomaternal Cellular and Plasma DNA Trafficking

The Yin and the Yang

DIANA W. BIANCHIa AND Y. M. DENNIS LOb

aDivision of Genetics and Departments of Pediatrics and Obstetrics and Gynecology, Tufts University School of Medicine, Boston, Massachusetts, USA
bDepartment of Chemical Pathology and Institute of Molecular Oncology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong Special Administrative Region, China

Address for correspondence—either: Diana W. Bianchi, Division of Genetics and Departments of Pediatrics and Obstetrics and Gynecology, Tufts University School of Medicine, 750 Washington Street, Box 394, Boston, MA 02111. Voice: 617-636-1468; fax: 617-636-1469.
dbianchi{at}lifespan.org
or Y. M. Dennis Lo, Department of Chemical Pathology, Room 38023, 1/F Clinical Sciences Building, Prince of Wales Hospital, 30-32 Ngan Shing Street, Shatin, New Territories, Hong Kong Special Administrative Region, China. Voice: +852 2632 2563; fax: +852 2194 6171.
loym{at}cuhk.edu.hk

In human pregnancy, multiple lines of evidence have indicated that there is trafficking of nucleated cells and cell-free DNA between the mother and fetus. Diagnostically, fetal cells in maternal blood and fetal DNA in maternal plasma offer a noninvasive source of fetal material for prenatal diagnosis. Through the developments of methods for fetal cell isolation and fetal DNA detection, many fetal genetic characteristics and chromosomal abnormalities have been detected from maternal blood. Large-scale clinical trials have been initiated that will facilitate the eventual application of these technologies. The presence of large quantities of cell-free fetal DNA in maternal plasma challenges the conventional belief that the fetal and maternal circulations are separate entities. In addition, the recent demonstration of the persistence of fetal cells following delivery also opens up a new field of investigation and raises new physiologic and pathogenic implications. Like the Yin and Yang in Chinese mythology, we believe that fetal cells and fetal DNA transfer are closely related and should be studied and applied in a synergistic manner.

Key Words: Noninvasive prenatal diagnosis • Chimerism • Genetic diagnosis




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