Digital PCR: a powerful new tool for noninvasive prenatal diagnosis?
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.
Zimmermann
Bernhard G
BG
Fluidigm Corporation, South San Francisco, USA.
Grill
Simon
S
Holzgreve
Wolfgang
W
Zhong
Xiao Yan
XY
Jackson
Laird G
LG
Hahn
Sinuhe
S
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
D004655:Emulsions