QF-PCR在非整倍体染色体异常的诊断价值探讨  

The diagnostic value of QF-PCR in aneuploid chromosomal abnormalities

作　　者：程宇 姜丽 饶辉 张晓龙 张茂勋 CHENG Yu;JIANG Li;RAO Hui;ZHANG Xiao-long;ZHANG Mao-xun(Clinical Laboratory,Chongqing Three Gorges Central Hospital,Chongqing 404100,China;Oncology Departments Chongqing Three Gorges Central Hospitalj Chongqing 404100,China;Chest Surgery,Wanzhou District People's Hospital,Chongqing 404100,China;ICU,Wanzhou District People's Hospital,Chongqing 404100,China)

机构地区：[1]重庆大学附属三峡医院检验科,重庆404100 [2]重庆大学附属三峡医院肿瘤科,重庆404100 [3]万州区人民医院胸外科,重庆404100 [4]万州区人民医院ICU,重庆404100

出　　处：《中国优生与遗传杂志》2020年第11期1326-1328,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析荧光定量PCR(quantitative fluorescence PCR,QF-PCR)在羊水细胞染色体的非整倍体异常的产前检测中的参考价值。方法选取 2017年1月至2019年1月于我院进行染色检测产前诊断的5068位孕妇为研究对象,使用QF-PCR和染色体核型分析技术对其羊水标本进行分析检测,进而对比分析两种检测结果。结果 QF-PCR和核型分析均检测出98例染色体数目异常,其检测的一致率高达100%;细胞遗传学培养的失败数高达64份(1.26%);26对双胎羊水细胞中共有9对双胎的STR位点表现一致,而22对的STR位点表现不同;共发现9例母血细胞或母体细胞污染的羊水标本,处理后QF-PCR均得以成功检测。结论 QF-PCR在产前诊断染色体的非整倍体异常的产前检测中具有显著的优势,值得推广使用。Objective:To analyze the reference value of quantitative fluorescence PCR(QF-PCR)in prenatal detection of aneuploidy abnormalities in amniotic fluid chromosomes.Methods:A total of 5068 pregnant women who underwent prenatal diagnosis of staining in our hospital from January 2017 to January 2019 were selected as subjects.QF-PCR and karyotype analysis techniques were used to analyze and detect the amniotic fluid specimens.The results of two test methods were compared and analyzed.Results:QF-PCR and karyotyping assays detected 98 chromosome abnormalities,and the identical detection rate was as high as 100%;the number of cytogenetic culture failures was as high as 64(1.26%);26 pairs of twin fetal water cells shared 9 pairs of twins showed consistent STR loci,while 22 pairs of STR loci showed different results;9 cases of maternal blood cells or maternal cell contaminated amniotic fluid specimens were found,and QF-PCR successfully detected the results after related treatment.Conclusion:QF-PCR has significant advantages in the prenatal testing of aneuploidy abnormalities of chromosomes for prenatal diagnosis,and it is worthy of being utilized clinically.

关 键 词：荧光定量聚合酶链反应 染色体 非整倍体 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]