QF-PCR技术在快速产前诊断常见非整倍体染色体异常中的应用

Quantitative fluorescence PCR for rapid prenatal diagnosis of common chromosome aneuploidies

目的:利用定量荧光PCR(QF-PCR)产前诊断常见非整倍体染色体异常。方法:对95例羊水样本采用QF-PCR技术检测短串联重复序列(STR)的多态性信息含量(PIC),并将所得实验结果与染色体核型分析结果进行比较。结果:QF-PCR检测发现95例羊水标本中正常63例,21三体14例(1例嵌合型,1例易位型),18三体4例,(45,X)3例,(47,XXX)8例;检测结果与染色体核型分析结果一致。QF-PCR检测结果的符合率为96.8%。结论:QF-PCR可快速检测非整倍体染色体异常,并且结果可靠。

AIM：To evaluate the effectiveness of quantitative fluorescence PCR（QF-PCR） as a method for rapid prenatal diagnosis of common chromosome aneuploidyies. METHODS：Polymorphism information contents（PIC） of each short tandem repeat（STR） in 95 cases of amniotic fluid samples were detected by QF-PCR and the data were compared with the results of routine chromosome karyotype analysis. RESULTS：The results of QF-PCR included 63 normal samples and 14 trisomy 21, 4 trisomy 18, 3（45, X） and 8（47, XXX）. The rapid QF-PCR assay was successful to detect all aneuploidies involving chromosomes 21, 18, 13, X and Y in prenatal diagnosis, which were verified by chromosome karyotype analysis. The results showed that the total coincidence rate between QF-PCR and routine chromosome karyotype analysis was 96.8%. CONCLUSION：The QF-PCR is a reliable method of detecting common chromosome aneuploidies for rapid prenatal diagnosis.