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Updated: Jun 28, 2026
Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions
Published on: September 25, 2018
Digital PCR: a powerful new tool for noninvasive prenatal diagnosis?
Bernhard G Zimmermann1, Simon Grill, Wolfgang Holzgreve
1Fluidigm Corporation, South San Francisco, 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.
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