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数字PCR：非侵入性产前诊断的强大新工具？

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

作者信息

Zimmermann Bernhard G, Grill Simon, Holzgreve Wolfgang, Zhong Xiao Yan, Jackson Laird G, Hahn Sinuhe

机构信息

Fluidigm Corporation, South San Francisco, USA.

出版信息

Prenat Diagn. 2008 Dec;28(12):1087-93. doi: 10.1002/pd.2150.

DOI:10.1002/pd.2150
PMID:19003785
Abstract

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.

摘要

最近的报告表明，数字PCR通过分析母体血浆或血清中的游离DNA和RNA，可能对胎儿非整倍体的无创检测有用。在这篇综述中，我们深入探讨了其基础技术及其在癌症标本中致癌性改变等位基因频率测定方面的先前应用。我们还指出了这项新技术如何可能被证明对胎儿非整倍体和单基因孟德尔疾病的检测有用。

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1
Digital PCR: a powerful new tool for noninvasive prenatal diagnosis?数字PCR：非侵入性产前诊断的强大新工具？
Prenat Diagn. 2008 Dec;28(12):1087-93. doi: 10.1002/pd.2150.
2
Noninvasive prenatal diagnosis of fetal aneuploidies and Mendelian disorders: new innovative strategies.胎儿非整倍体和孟德尔疾病的无创产前诊断：新的创新策略
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Noninvasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of the art.通过母体血浆核酸分析对胎儿染色体非整倍体进行无创产前检测：当前技术水平综述
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[Noninvasive prenatal diagnosis of single gene disorders through cell-free fetal DNA in maternal blood].通过孕妇血液中的游离胎儿DNA对单基因疾病进行无创产前诊断
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Genomic medicine in prenatal diagnosis.产前诊断中的基因组医学。
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Recent advances in non-invasive prenatal DNA diagnosis through analysis of maternal blood.通过分析孕妇血液进行无创产前DNA诊断的最新进展。
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[New frontiers in noninvasive, prenatal screening and diagnosis: fetal DNA circulating in maternal blood].[无创产前筛查与诊断的新前沿：母体血液中循环的胎儿DNA]
Minerva Ginecol. 2007 Jun;59(3):331-41.
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Recent progress in non-invasive prenatal diagnosis.无创产前诊断的最新进展。
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Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification.通过DNA扩增进行单基因疾病植入前基因诊断的策略。
Prenat Diagn. 1998 Dec;18(13):1389-401.

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