title: Digital PCR: a powerful new tool for noninvasive prenatal diagnosis?
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.
authors.affiliation: Fluidigm Corporation, South San Francisco, USA.
authors.forename: Bernhard G
authors.initials: BG
authors.lastname: Zimmermann
authors.forename: Simon
authors.initials: S
authors.lastname: Grill
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Holzgreve
authors.forename: Xiao Yan
authors.initials: XY
authors.lastname: Zhong
authors.forename: Laird G
authors.initials: LG
authors.lastname: Jackson
authors.forename: Sinuhe
authors.initials: S
authors.lastname: Hahn
mesh_terms: D000782:Aneuploidy; D004526:Efficiency; D004655:Emulsions / Q000494:pharmacology; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D046210:Microfluidic Analytical Techniques / Q000379:methods; D008954:Models, Biological; D016133:Polymerase Chain Reaction / Q000295:instrumentation / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012815:Signal Processing, Computer-Assisted
chemical_list: D004655:Emulsions