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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 investigate the clinical value of quantitative fluorescence PCR (QF-PCR) in the rapid prenatal diagnosis of chromosomal aneuploidy. Methods Two hundred and eighty prenatal diagnostic samples were tested by QF-PCR and karyotype analysis, and the results were compared. Results Karyotype analysis: A total of 175 samples of prenatal diagnosis were successfully cultured. The karyotype analysis was reported in 2-3 weeks, of which 133 cases were normal and 42 cases were abnormal. QF-PCR results: All samples were successfully QF-PCR detection within 48h; detected a normal number of 145 cases of chromosome abnormalities in 35 cases, of which karyotype analysis detected in 10 cases of 21 trisomy, 13 cases of 18-tris One case of 46, XY, der (14; 21) (q10; q10) and one case of 46 cases were detected by QF-PCR. , XX, der (14; 21) (q10; q10). The result of QF-PCR was 21-trisomy. QF-PCR technology for five common chromosome aneuploidy detection rate of 100%, no false positive. Conclusion QF-PCR can rapidly and accurately diagnose 21, 18, 13, X and Y chromosome aneuploidy within 48 hours. This technique has important clinical value in rapid prenatal diagnosis of common aneuploidy.