QF-PCR在巴西人群产前诊断中的验证。
Validation of QF-PCR for prenatal diagnoses in a Brazilian population.
作者信息
de Moraes Renata Wendel, de Carvalho Mario Henrique Burlacchini, de Amorim-Filho Antonio Gomes, Francisco Rossana Pulcineli Vieira, Romão Renata Moscolini, Levi José Eduardo, Zugaib Marcelo
机构信息
Departamento de Ginecologia e Obstetrícia, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, BR.
Fundação Pró-Sangue, Hemocentro de São Paulo, SP, BR.
出版信息
Clinics (Sao Paulo). 2017 Jul;72(7):400-404. doi: 10.6061/clinics/2017(07)02.
OBJECTIVES
: Quantitative fluorescence polymerase chain reaction (QF-PCR) is a rapid and reliable method for screening aneuploidies, but in Brazil, it is not used in public services. We investigated the accuracy of QF-PCR for the prenatal recognition of common aneuploidies and compared these results with cytogenetic results in our laboratory.
METHOD
: A ChromoQuant QF-PCR kit containing 24 primer pairs targeting loci on chromosomes 21, 13, 18, X and Y was employed to identify aneuploidies of the referred chromosomes.
RESULTS
: A total of 162 amniotic fluid samples analyzed using multiplex QF-PCR were compared with karyotyping analysis. The QF-PCR results were consistent with the results of cytogenetic analysis in 95.4% of all samples.
CONCLUSION
: QF-PCR was demonstrated to be efficient and reliable for prenatal aneuploidy screening. This study suggests that QF-PCR can be used as a rapid diagnostic method. However, rearrangements and some mosaic samples cannot be detected with this test; thus, those exceptions must undergo cytogenetic analysis.
目的
定量荧光聚合酶链反应（QF-PCR）是一种快速且可靠的非整倍体筛查方法，但在巴西，公共服务领域未使用该方法。我们研究了QF-PCR在产前识别常见非整倍体方面的准确性，并将这些结果与我们实验室的细胞遗传学结果进行比较。
方法
使用包含24对靶向21号、13号、18号、X和Y染色体上基因座的引物对的ChromoQuant QF-PCR试剂盒来识别上述染色体的非整倍体。
结果
将使用多重QF-PCR分析的162份羊水样本与核型分析进行比较。在所有样本中，QF-PCR结果与细胞遗传学分析结果的一致性为95.4%。
结论
QF-PCR被证明在产前非整倍体筛查中有效且可靠。本研究表明QF-PCR可作为一种快速诊断方法。然而，该检测无法检测重排和一些嵌合样本；因此，这些例外情况必须进行细胞遗传学分析。
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