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首页> 外文期刊>Prenatal Diagnosis >Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR, results of 9 years of clinical experience.
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Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR, results of 9 years of clinical experience.

机译：通过QF-PCR快速进行产前常见染色体非整倍性诊断，具有9年临床经验的结果。

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BACKGROUND: Despite being deliberately targeted to common chromosome aneuploidies, the rapid quantitative fluorescent polymerase chain reaction (QF-PCR) tests can detect the majority of chromosome abnormalities in prenatal diagnosis. The main advantages of this assay are low cost, speed and automation allowing large-scale application. METHODS: We developed a QF-PCR test that was applied on 43 000 clinical samples reporting results in 24 h. Most common indications were biochemical risk (32%) and advanced maternal age (30%). Samples were also tested by cytogenetic analysis and the results compared. RESULTS: Aneuploidies involving chromosomes 21, 18, 13, X and Y were detected with 100% specificity. Several cases of partial trisomies and mosaicism were also identified. Overall 95% of clinically relevant abnormalities were readily detected and termination of affected pregnancies could be performed without waiting for the cytogenetic results. CONCLUSIONS: Our study supports the possibility of reducing the load of prenatal cytogenetic tests if the pregnancies are carefully monitored by non-invasive screening. In case of abnormal QF-PCR results, medical action can be taken within few hours from sampling. In cases of negative QF-PCR results, cytogenetic analyses might only be performed for fetuses with ultrasound abnormalities. In countries where large-scale cytogenetic tests are not available, QF-PCR may be used as the only prenatal diagnostic procedure. Copyright (c) 2009 John Wiley & Sons, Ltd.
机译：背景：尽管有意针对常见的染色体非整倍性，但快速定量荧光聚合酶链反应（QF-PCR）测试可以在产前诊断中检测到大多数染色体异常。该测定法的主要优点是低成本，快速和自动化，可进行大规模应用。方法：我们开发了一种QF-PCR测试，该测试在24小时内应用于43 000个报告结果的临床样品。最常见的适应症是生化风险（32％）和高龄产妇（30％）。还通过细胞遗传学分析测试样品，并比较结果。结果：检测到涉及21、18、13，X和Y染色体的非整倍性具有100％的特异性。还确定了部分三体性和镶嵌症的几例。总体上95％的临床相关异常都很容易被发现，并且可以在不等待细胞遗传学结果的情况下终止受影响的妊娠。结论：如果通过非侵入性筛查仔细监测妊娠，我们的研究支持减少产前细胞遗传学检查负荷的可能性。如果QF-PCR结果异常，则可在采样后数小时内采取医疗措施。如果QF-PCR结果为阴性，则只能对超声异常的胎儿进行细胞遗传学分析。在无法进行大规模细胞遗传学检测的国家，QF-PCR可以用作唯一的产前诊断程序。版权所有（c）2009 John Wiley＆Sons，Ltd.

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