荧光定量聚合酶链反应技术在快速产前诊断中的应用  

Application of quantitative fluorescent polymerase chain reaction technique in rapid prenatal diagnosis

作　　者：乔伶俐 李九凤 雷庆华 黄丽婵 周慧 陈亚军 Qiao lingli;Li Jiufeng;Lei Qinghua;Huang Lichan;Zhou Hui;Chen Yajun(Genetics and Prenatal Diagnosis Center,Shaoguan Maternal and Child Health Care Hospital,Shaoguan 512000,China)

机构地区：[1]广东省韶关市妇幼保健院遗传与产前诊断中心,512000

出　　处：《中国实用医刊》2019年第24期9-12,共4页Chinese Journal of Practical Medicine

基　　金：2018年韶关市科技计划项目(2018sn034)。

摘　　要：目的 探讨应用荧光定量聚合酶链反应(QF-PCR)技术行快速产前诊断的可行性。方法 抽取2018年1月至2019年6月韶关市妇幼保健院1283例产前诊断标本,应用QF-PCR技术和传统染色体核型法分析标本,并比较两种方法的检测结果。结果 1283例产前诊断标本中,绒毛产前诊断标本培养最终失败者4例。QF-PCR技术于48 h或72 h之内能有效获得检测结果,1283例中检测出65例阳性标本,与传统染色体核型分析方法比较,阳性检测结果均相符;与染色体核型分析结果不相符者10例。结论 QF-PCR技术对非嵌合型非整倍染色体数目异常标本的特异性以及敏感性较高,可缩短检测时间,但其对于非整倍体染色体的嵌合、结构异常、部分缺失与重复无法准确检测,只能作为传统染色体核型分析的一种补充手段。Objective To investigate the feasibility of quantitative fluorescent polymerase chainreaction(QF-PCR)in rapid prenatal diagnosis.Methods A total of 1283 prenatal diagnostic specimens from Shaoguan Maternal and Child Health Care Hospital from January 2018 to June 2019 were selected.The specimens were analyzed by QF-PCR technique and traditional karyotype methods,and the two methods were compared,and the results of the two methods were compared.Results Among the 1283 samples,4 samples of villi prenatal diagnosis failed in cell culture.The QF-PCR technique can effectively obtain the test results within 48 h or 72 h,and 65 positive samples were detected by QF-PCR in 1283 cases,which was consistent with the traditional chromosome karyotype analysis method;and the results of QF-PCR were not consistent with the results of chromosome analysis in 10 cases.Conclusions The effective application of QF-PCR technology shows high specificity and sensitivity for non-chimeric aneuploidy chromosome abnormal specimens,which can shorten the detection time.However,the chimerism,structural abnormality,partial deletion and duplication of aneuploid chromosomes cannot be accurately detected,so they can only be used as a supplementary method for the traditional karyotype analysis of chromosomes.

关 键 词：荧光定量聚合酶链反应 染色体 产前诊断 

分 类 号：R714[医药卫生—妇产科学]