使用多重定量荧光聚合酶链反应进行常见非整倍体的产前诊断。
Prenatal diagnosis of common aneuploidies using multiplex quantitative fluorescent polymerase chain reaction.
作者信息
El Mouatassim S, Becker M, Kuzio S, Ronsin C, Gil S, Nouchy M, Druard L, Forestier F
机构信息
Laboratoire Marcel Mérieux, Service de Génétique Moléculaire, Lyon, France.
出版信息
Fetal Diagn Ther. 2004 Nov-Dec;19(6):496-503. doi: 10.1159/000080162.
OBJECTIVE
Prenatal diagnosis of foetal trisomies is usually performed by cytogenetic analysis. This requires lengthy laboratory procedures and it is expensive. Here, we report a retrospective study of quantitative fluorescent polymerase chain reaction (QF-PCR) for prenatal detection of trisomies 13, 18 and 21.
METHODS
QF-PCR was performed on a total of 447 amniotic fluids blindly analysed without any knowledge of the cytogenetic results and 43 samples with known karyotype. All samples were tested with at least 4 small tandem repeat markers specific for each chromosome 13, 18 or 21.
RESULTS
QF-PCR results on amniotic fluid were consistent with conventional cytogenetic data. QF-PCR detected 5 cases of trisomy 21, 2 cases of trisomy 18, 1 case of trisomy 13 and 1 case with Klinefelter's syndrome.
CONCLUSIONS
QF-PCR has proved to be very useful in clinical settings, since it allows the detection of major numerical disorders in a few hours after sampling and thus reduces parental anxiety.
目的
胎儿三体综合征的产前诊断通常通过细胞遗传学分析进行。这需要冗长的实验室程序且费用高昂。在此，我们报告一项关于定量荧光聚合酶链反应（QF-PCR）用于产前检测13、18和21三体的回顾性研究。
方法
对总共447份羊水进行QF-PCR检测，检测时对细胞遗传学结果不知情，同时对43份已知核型的样本进行检测。所有样本均用至少4个针对13、18或21号染色体的小串联重复标记进行检测。
结果
羊水的QF-PCR结果与传统细胞遗传学数据一致。QF-PCR检测出5例21三体、2例18三体、1例13三体以及1例克兰费尔特综合征病例。
结论
QF-PCR已证明在临床环境中非常有用，因为它能在采样后数小时内检测出主要的数目异常，从而减轻父母的焦虑。
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