QF-PCR技术联合染色体核型分析在羊水产前诊断中的应用  

Application of QF-PCR combined with karyotype analysis in prenatal diagnosis of amniotic fluid.

作　　者：易翠兴 李东至 袁思敏 李发涛 李伟 廖灿 YI Cui-xing;LI Dong-zhi;YUAN Si-min;LI Fa-tao;LI Wei;LIAO Can(Prenatal Diagnosis Center,Guangzhou Women and Children's Medical Center,Guangzhou 510623,Guangdong,CHINA)

机构地区：[1]广州市妇女儿童医疗中心产前诊断中心,广东广州510623

出　　处：《海南医学》2020年第20期2617-2619,共3页Hainan Medical Journal

摘　　要：目的探讨QF-PCR联合染色体核型分析在羊水产前诊断中的应用价值。方法回顾性分析2011年1月至2018年12月在广州市妇女儿童医疗中心产前诊断中心行产前诊断的16314例孕妇资料,所有羊水标本同时采用荧光定量聚合酶链反应(fluorescence quantitative polymerase chain reaction,QF-PCR)技术和染色体核型分析技术进行分析。结果两种方法对常见的非整倍体异常诊断符合率在99%以上;针对全部染色体异常结果,两种方法对比后发现,2011—2014年Kappa一致性分析,一致性中等(Kappa=0.608,P=0.000);2015—2018年kappa一致性分析,一致性好(Kappa=0.862,P=0.000)。结论QF-PCR技术能够快速诊断染色体异常,弥补染色体核型分析时间长的不足,两者互补对于产前诊断非整倍体有很好的应用价值。Objective To explore the application of fluorescence quantitative polymerase chain reaction(QF-PCR)combined with karyotype analysis in prenatal diagnosis of amniotic fluid.Methods A retrospective analysis of 16314 amniotic fluid samples from pregnancies,who performed prenatal diagnosis at the Prenatal Diagnosis Center of Guangzhou Women and Children's Medical Center from January 2011 to December 2018,were investigated independently by both QF-PCR and karyotyping technique.Results The coincidence rate for common aneuploidy abnormalities was above 99%.The comparison of the two methods for all abnormal results revealed that the kappa consistency analysis in 2011-2014 was moderate(Kappa=0.608,P=0.000);the kappa consistency analysis in 2015-2018 was high(Kappa=0.862,P=0.000).Conclusion QF-PCR technology can quickly diagnose chromosomal abnormalities and make up for the short time of chromosome karyotype analysis.The complementarity is very useful for prenatal diagnosis of aneuploidy.

关 键 词：荧光定量聚合酶链反应 染色体核型分析 羊水 产前诊断 非整倍体 一致性分析 

分 类 号：R714.15[医药卫生—妇产科学]