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.
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)
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
关键词
荧光定量聚合酶链反应
染色体
非整倍体
产前诊断
Fluorescence quantitative polymerase chain reaction
Chromosome
Aneuploidy
Prenatal diagnosis
