Digital PCR: a powerful new tool for noninvasive prenatal diagnosis?

被引：52

作者：

Zimmermann, Bernhard G. ^{[2
]}

Grill, Simon

Holzgreve, Wolfgang

Zhong, Xiao Yan

Jackson, Laird G. ^{[3
]}

Hahn, Sinuhe ^{[1
]}

机构：

[1] Univ Womens Hosp, Lab Prenatal Med & Gynecol Oncol, Dept Biomed, CH-4031 Basel, Switzerland

[2] Fluidigm Corp, San Francisco, CA USA

[3] Drexel Univ, Sch Med, Div Obstet & Gynecol, Philadelphia, PA 19104 USA

来源：

PRENATAL DIAGNOSIS | 2008年 / 28卷 / 12期

关键词：

digital PCR; noninvasive prenatal diagnosis; cell-free fetal DNA;

D O I：

10.1002/pd.2150

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. Copyright (c) 2008 John Wiley & Sons. Ltd.

引用

页码：1087 / 1093

页数：7

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