相似序列高分辨熔解曲线技术在常见染色体三体产前诊断中的应用  

Application of high-resolution melting analysis of segmental duplication in the prenatal diagnosis of common trisomies

作　　者：许文彦 郭奇伟[1] 胡平[2] 朱宇宁[3] 张雪梅[4] 郑欣怡 张海霞 周裕林[1] Xu Wenyan;Guo Qiwei;Hu Ping;Zhu Yuning;Zhang Xuemei;Zheng Xinyi;Zhang Haixia;Zhou Yulin(United Diagnostic and Research Center for Clinical Genetics,School of Public Health of Xiamen University and Xiamen Maternal and Child Health Hospital,Xiamen 361003,China;Department of Prenatal Diagnosis,Nanjing Maternity and Child Health Care Hospital,Nanjing Medical University,Nanjing 210004,China;Clinical Laboratory,Women's Hospital,Zhejiang University,Hangzhou 310006,China;Department of Prenatal Diagnosis,West China Second University Hospital,Sichuan University West China Women’s and Children’s Hospital,Chengdu 610041,China)

机构地区：[1]厦门大学公共卫生学院暨厦门市妇幼保健院分子遗传联合检测研究中心,厦门361003 [2]南京市妇幼保健院产前诊断中心,南京210004 [3]浙江大学医学院附属妇产科医院检验科,杭州310006 [4]四川大学华西第二医院/华西妇产儿童医院产前诊断中心,成都610041

出　　处：《中华检验医学杂志》2020年第7期745-750,共6页Chinese Journal of Laboratory Medicine

基　　金：国家自然科学基金面上项目(81572084);厦门市科技重大专项(3502Z20171006);厦门市重大疾病联合攻关课题(3502Z20149030)。

摘　　要：目的:为探讨相似序列高分辨熔解曲线(SD-HRM)技术在21三体、18三体和13三体产前诊断中的临床应用价值。方法:于2014年9月至2016年8月从南京市妇幼保健院、浙江大学附属妇产科医院、四川大学华西第二医院/华西妇产儿童医院和厦门市妇幼保健院共采集1152例进行产前诊断孕妇的羊水细胞,同时采用SD-HRM技术和染色体核型分析技术进行平行检测,计算SD-HRM技术的敏感度、特异度,并分析两项技术检测结果的一致性,计算Kappa值。结果:1152例孕妇经SD-HRM技术检测出21三体161例,18三体60例,13三体5例,敏感度和特异度均为100%,与染色体核型分析结果一致(Kappa=1)。结论:在常见染色体三体的产前诊断中,SD-HRM技术与染色体核型分析的准确率相当,作为快速产前诊断的一种新方法具有较好的应用前景。To evaluate the clinical utility of high-resolution melting analysis of segmental duplication(SD-HRM)in prenatal diagnosis of trisomies 21,18 and 13.Methods A total of 1152 amniotic fluid samples were collected from pregnant women who underwent prenatal diagnosis in the Nanjing Maternity and Child Health Care Hospital,Women′s Hospital School of Medicine Zhejiang University,West China Second University Hospital,Sichuan University/West China Women′s and Children′s Hospital,and Xiamen Maternal and Child Health Hospital from September 2014 to August 2016.These samples were examined with SD-HRM and karyotyping simultaneously.Clinical sensitivity and specificity of SD-HRM were calculated,and Kappa values were measured to evaluate the consistency of detection results of the two methods.Results A total of 161 cases of trisomy 21,60 cases of trisomy 18,and 5 cases of trisomy 13 were detected by SD-HRM in 1152 prenatal samples,sensitivity and specificity were both up to 100%,and Kappa values is equal to 1 which were consistent with the results of karyotype analysis.Conclusion SD-HRM is validated to be highly accurate for the prenatal diagnosis of common trisomies,which is promising in the clinical practice.

关 键 词：染色体障碍 三体性 产前诊断 染色体 人 13对 染色体 人 18对 染色体 人 21对 聚合酶链反应 核型分析 

分 类 号：R714.5[医药卫生—妇产科学]