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Digital PCR: a powerful new tool for noninvasive prenatal diagnosis? |
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| Authors: | Bernhard G Zimmermann Simon Grill Wolfgang Holzgreve Xiao Yan Zhong Laird G Jackson Sinuhe Hahn |
| Institution: | 1. Fluidigm Corporation, South San Francisco, USA;2. Department of Biomedicine, University Women's Hospital, Basel, Switzerland;3. Division of Obstetrics and Gynecology, Drexel University School of Medicine, Philadelphia, Pennsylvania, USA |
| Abstract: | Recent reports have indicated that digital PCR may be useful for the noninvasive detection of fetal aneuploidies by the analysis of cell-free DNA and RNA in maternal plasma or serum. In this review we provide an insight into the underlying technology and its previous application in the determination of the allelic frequencies of oncogenic alterations in cancer specimens. We also provide an indication of how this new technology may prove useful for the detection of fetal aneuploidies and single gene Mendelian disorders. Copyright © 2008 John Wiley & Sons, Ltd. |
| Keywords: | digital PCR noninvasive prenatal diagnosis cell-free fetal DNA |