重复片段的荧光定量PCR技术在快速检测胎儿染色体非整倍体异常中的应用

Rapid diagnosis of aneuploidy using segmental duplication quantitative fluorescent PCR

目的探讨SD-QF-PCR技术在常见染色体非整倍体异常中的应用价值和临床应用前景。方法选择670例产前诊断的羊水标本,每例标本分成两份,一份样本进行常规染色体核型分析,另一份标本采用我们开发的SD-QF-PCR技术进行胎儿常见染色体非整倍体的分析,并比较两种方法的检测结果以验证SD-QF-PCR的可行性。结果在670例样本中,应用SDQF-PCR方法检测出了21三体综合征20例;18三体综合征2例;13三体综合征,45,X,47,XXX和48,XXYY各1例,SD-QF-PCR的检测结果与传统染色体核型分析方法的结果一致。结论 SD-QF-PCR对13、18、21、X和Y非整倍异常的检测具有操作简单、检测速度快、敏感性高和特异性强的特点,在临床上有广阔的应用前景。

Objective：The aim of this study was use SD-QF-PCR for the prenatal diagnosis of fetal chromosomal aneuploidies. Methods：670 amniotic samples were processed in parallel by SD-QF-PCR aneuploidy detection and conventional karyotype analysis.We evaluated the performance of this method using the karyotyping results. Results：A total of 670 amniotic fluid samples were dectected,the results of SD-QF-PCR were consistent with traditional karyotype analysis,including trisomy 21（n=20）;trisomy 18（n=2）;trisomy 13（n=1）;45,X（n=1）;47,XXX（n=1）;48,XXYY（n=2）. Conclusion：SDQF-PCR is an efficient and reliable method for rapid detection of aneuplodies,and which is suitable for prenatal aneuploidy detection.