Quantitative fluorescence PCR analysis of >40000 prenatal samples for the rapid diagnosis of trisomies 13, 18 and 21 and monosomy X
Quantitative fluorescence PCR analysis of >40000 prenatal samples for the rapid diagnosis of trisomies 13, 18 and 21 and monosomy X
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DOI：
10.1002/pd.3986
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发表时间：
2012-12-01
影响因子：
3
通讯作者：
Ogilvie, Caroline Mackie
中科院分区：
文献类型：
--
作者：
Mann, Kathy;Hills, Alison;Ogilvie, Caroline Mackie
目的介绍10年来对产前标本进行定量荧光聚合酶链式反应(QF-PCR)分析的结果，以快速诊断常见的非整倍体。这是来自单一检测中心的最大QF-PCR数据集。方法采用包含17个微卫星标记的QF-PCR方法，对所有产前标本进行13、18、21三体及三倍体鉴定。一项包含14个性染色体标记的单独检测针对X单体增加风险的产前样本。结果总结了40 624例产前样本，其中绒毛14 144例，羊水26 480例。对于2.24%的羊水和0.25%的绒毛样本，QF-PCR结果是不可能的，因为存在与母体细胞污染相一致的额外基因。只有0.08%的样本对一个或多个染色体没有提供信息，0.05%的样本未能产生基因型。98%的样本是在收到样本后的第二个工作日报告的。消耗品成本为5磅/样品。结论定量荧光聚合酶链式反应是一种快速诊断产前常见非整倍体的准确、可靠、有效的方法。它具有检测三倍体和嵌合体的优势，并从相当大的规模经济中受益。(C)2012年官方版权。
Objective To present the results of 10 years of quantitative fluorescence PCR (QF-PCR) analysis of prenatal samples for the rapid diagnosis of the common aneuploidies. This represents the largest QF-PCR data set from a single testing centre. Methods QF-PCR analysis using a single assay containing 17 microsatellite markers was applied to all prenatal samples for the identification of trisomies 13, 18 and 21 and triploidy. A separate assay containing 14 sex chromosome markers was targeted to prenatal samples at increased risk of monosomy X. Results Results from 40?624 prenatal samples comprising 14?144 chorionic villus and 26?480 amniotic fluid samples are summarised. A QF-PCR result was not possible for 2.24% amniotic fluid and 0.25% chorionic villus samples because of the presence of an additional genotype consistent with maternal cell contamination. Just 0.08% samples were uninformative for one or more chromosomes and 0.05% of samples failed to produce a genotype. Ninety-eight percent of samples were reported the following working day from sample receipt. Consumable costs were 5 pound/sample. Conclusion QF-PCR analysis is proven to be an accurate, robust and efficient method for the rapid diagnosis of common aneuploidies in prenatal samples. It has the advantage of detecting triploidy and mosaicism and benefits from considerable economy of scale. (C) 2012 Crown copyright.