Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy

作者：Fan H Christina; Blumenfeld Yair J; El Sayed Yasser Y; Chueh Jane; Quake Stephen R^*

来源：American Journal of Obstetrics and Gynecology, 2009, 200(5): 543.e1.

DOI：10.1016/j.ajog.2009.03.002

• aneuploidy
• digital PCR
• rapid prenatal diagnosis

OBJECTIVE: The purpose of this study was to demonstrate that digital polymerase chain reaction (PCR) enables rapid, allele independent molecular detection of fetal aneuploidy.
STUDY DESIGN: Twenty-four amniocentesis and 16 chorionic villus samples were used for microfluidic digital PCR analysis. Three thousand and sixty PCR reactions were performed for each of the target chromosomes ( X, Y, 13, 18, and 21), and the number of single molecule amplifications was compared to a reference. The difference between target and reference chromosome counts was used to determine the ploidy of each of the target chromosomes.
RESULTS: Digital PCR accurately identified all cases of fetal trisomy ( 3 cases of trisomy 21, 3 cases of trisomy 18, and 2 cases of triosmy 13) in the 40 specimens analyzed. The remaining specimens were determined to have normal ploidy for the chromosomes tested.
CONCLUSION: Microfluidic digital PCR allows detection of fetal chromosomal aneuploidy utilizing uncultured amniocytes and chorionic villus tissue in less than 6 hours.

• 出版日期2009-5