QF-PCR技术在胎儿超声异常病例快速产前诊断中的应用研究

Study of QF-PCR for women with abnormal ultrasound findings in rapid prenatal diagnosis application.

目的探讨分析荧光定量PCR(Quantitative Fluorescent Polymerase Chain Reaction,QF-PCR)技术在快速产前诊断常见染色体非整倍体中的临床应用价值。方法用QF-PCR技术和核型分析两种方法对180例产前诊断样本进行检测,比较结果。结果核型分析:共有175例产前诊断样本成功进行细胞培养,核型分析报告在2-3周发出;其中正常133例,异常42例。QF-PCR结果:所有样本均成功在48h内进行QF-PCR检测;共检出染色体数目正常145例,异常35例,其中核型分析检测到的10例21-三体、13例18-三体、4例13-三体、5例45,X、1例三倍体用QF-PCR方法全部检出,1例46,XY,der(14;21)(q10;q10)和1例46,XX,der(14;21)(q10;q10),QF-PCR检测结果为21-三体。QF-PCR技术对五种常见染色体非整倍体的检出率为100%,无假阳性。结论 QF-PCR技术能够在48h内快速、准确地诊断21、18、13、X及Y染色体非整倍体,此技术在快速产前诊断常见非整倍体方面具有重要临床实用价值。

Objective： To evaluate the detection of common aneuploidies by QF-PCR（Quantitative Fluorescent Polymerase Chain Reaction） in rapid prenatal diagnosis application.Methods： A total of 180 prenatal samples were analysed by both QF-PCR and karyotype and the results of these two methods were compared.Results： karyotyping results：175 samples were sucsessfully obtained 2-3 weeks after sample collecting.Including 133 normal samples and 42 abnormal samples.QF-PCR results： The results of QF-PCR were all sucsessfully obtained within 48 hours of sample collection.Including 145 normal samples and 35 abnormal samples.The rapid QF-PCR tests can detect all aneuploidies involving chromosomes 21,18,13,X and Y in prenatal diagnosis（10 trisomy 21,13 trisomy 18,4 trisomy 13,5 45,X,1 69,XXX.No false positive result was found.Conclusions： The rapid QF-PCR test can speedly,correctly detect all aneuploidies involving chromosomes 21,18,13,X and Y in prenatal diagnosis.