Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy.
Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy.
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DOI：
10.1016/j.ajog.2009.03.002
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发表时间：
2009-05
影响因子：
9.8
通讯作者：
Quake, Stephen R.
中科院分区：
文献类型：
--
作者：
Fan, H. Christina;Blumenfeld, Yair J.;El-Sayed, Yasser Y.;Chueh, Jane;Quake, Stephen R.
本研究的目的是证明数字聚合酶链反应（PCR）能够快速，等位基因无关的胎儿非整倍体的分子检测。对24例子宫内膜穿刺标本和16例绒毛标本进行微流控数字PCR分析。对每个靶染色体（X、Y、13、18和21）进行3060个PCR反应，并将单分子扩增的数量与参考进行比较。使用目标和参考染色体计数之间的差异来确定每个目标染色体的倍性。在分析的40份标本中，数字PCR准确地鉴定了所有胎儿三体病例（3例21三体，3例18三体和2例13三体）。其余标本被确定为检测染色体的正常倍性。微流控数字PCR可以在不到6小时内利用未培养的巨噬细胞和绒毛组织检测胎儿染色体非整倍性。
The purpose of this study was to demonstrate that digital polymerase chain reaction (PCR) enables rapid, allele independent molecular detection of fetal aneuploidy. 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. 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. Microfluidic digital PCR allows detection of fetal chromosomal aneuploidy utilizing uncultured amniocytes and chorionic villus tissue in less than 6 hours.
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DOI：
10.1073/pnas.0507904102
发表时间：
2005-11-08
影响因子：
11.1
作者：
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通讯作者：
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影响因子：
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作者：
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通讯作者：
MANSFIELD, ES