Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy

被引：92

作者：

Fan, H. Christina ^{[1
,2
]}

Blumenfeld, Yair J. ^{[3
]}

El-Sayed, Yasser Y. ^{[3
]}

Chueh, Jane ^{[3
]}

Quake, Stephen R. ^{[1
,2
]}

机构：

[1] Stanford Univ, Dept Bioengn, Stanford, CA 94305 USA

[2] Howard Hughes Med Inst, Stanford, CA USA

[3] Stanford Univ, Div Maternal Fetal Med, Dept Obstet & Gynecol, Stanford, CA 94305 USA

来源：

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY | 2009年 / 200卷 / 05期

关键词：

aneuploidy; digital PCR; rapid prenatal diagnosis; FLUORESCENCE INSITU HYBRIDIZATION; DEPENDENT PROBE AMPLIFICATION; POLYMERASE-CHAIN-REACTION; COMPARATIVE GENOMIC HYBRIDIZATION; AMNIOTIC-FLUID; UNCULTURED AMNIOCYTES; ARRAY-CGH; CHROMOSOMAL ANEUPLOIDIES; COUNTING ALLELES; COPY NUMBER;

D O I：

10.1016/j.ajog.2009.03.002

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

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.

引用

页码：543.e1 / 543.e7

页数：7

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