荧光原位杂交技术在高龄孕妇产前检查中的应用效果及细胞遗传学研究  

Application effect and cytogenetic study of fluorescence in situ hybridization in prenatal examination of elderly women

作　　者：李华丽 米阳 李静 LI Hua-li;MI Yang;LI Jing(Department of Obstetrics,Xi'an High-tech Hospital,Xi'an 710075;Department of Obstetrics ,Northwest Women and Children's Hospital,Xi'an 710061)

机构地区：[1]西安市高新医院国际部产科,陕西西安710075 [2]西北妇女儿童医院产科,陕西西安710061

出　　处：《中国优生与遗传杂志》2019年第8期925-928,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨荧光原位杂交技术在高龄产妇产前检查中的应用效果及细胞遗传学研究。方法选取2016年10月~2017年10月间在我院产科进行产前检查的高龄孕妇124例作为本次研究对象,采集羊水25ml,其中5ml进行羊水间期细胞的FISH检测,分别采用13、18、21、X、Y五色探针进行检测,另20ml用于羊水细胞培养,进行染色体核型检测。结果 124例进行染色体核型分析的羊水样本中,115例培养成功,成功率为92.74%,培养失败的9例均进行脐带血细胞核型分析,均表现正常;124例进行FISH检测的羊水样本均检测成功,成功率100%。染色体G显带分析检查出染色体异常10例,8例为非整倍体的染色体数目异常,其中1例为13-三体综合征,1例为13-三体伴罗伯特易位综合征,1例为18-三体综合征,1例为18-三体伴Klinefelter综合征,1例为21-三体综合征,1例21-三体伴X结构异常综合征,另2例为45,X/46,XX嵌合体,结论与FISH检测结果一致,但FISH检测所需天数明显少于染色体核型分析;以染色体核型分析作为产前检查的金标准,计算得出FISH检测的灵敏度、特异度、漏诊率、误诊率、正确指数分别是80.0%、100.0%、20.0%、0.0%、0.8。结论 FISH技术在高龄孕妇产前检查中的应用效果及细胞遗传学研究中具有操作简单、容易取材、结果快速、准确等优势,且避免了对孕妇的二次伤害,减少其等待时间,因此结合染色体核型分析可为其妊娠过程提供科学依据。Objective:To investigate the application effect and cytogenetic study of fluorescence in situ hybridization in prenatal examination of elderly women. Methods:A total of 124 elderly pregnant women who underwent antenatal care in our hospital from October 2016 to October 2017 were enrolled. 25 ml of amniotic fluid was collected,5 ml of which was used for FISH detection of amniotic fluid cells,respectively.,18,21,X,Y five-color probe for detection,another 20 ml for amniocytes culture,for karyotype detection. Results:Of the 124 amniotic fluid samples for karyotype analysis,115 were successfully cultured with a success rate of 92.74%. Nine of the culture failures were analyzed for umbilical cord blood karyotype,and all were normal;124 amniotic fluid samples were obtained by FISH. All tests were successful and the success rate was 100%. Chromosomal G banding analysis revealed 10 cases of chromosomal abnormalities,8 cases of aneuploidy chromosome number abnormalities,1 case of 13-trisomy syndrome,1 case of 13-trisomy with Robert translocation syndrome,1 For example,18-trisomy syndrome,1 case of 18-trisomy with Klinefelter syndrome,1 case of 21-trisomy syndrome,1 case of 21-trisomy with X structural abnormality syndrome,and 2 cases of 45,X/46,XX chimera,the conclusion is consistent with the FISH test results,but the number of days required for FISH detection is significantly less than the karyotype analysis;karyotype analysis is used as the gold standard for prenatal examination,and the sensitivity of FISH detection is calculated. The specificity,missed diagnosis rate,misdiagnosis rate,and correct index were 80.0%,100.0%,20.0%,0.0%,and 0.8,respectively. Conclusion:FISH technology has the advantages of simple operation,easy material selection,fast and accurate results in the application of antenatal examination in antenatal care,and avoids secondary injury to pregnant women and reduces their waiting time. Combining karyotype analysis provides a scientific basis for its pregnancy process.

关 键 词：荧光原位杂交技术 高龄产妇 产前检查 细胞遗传学研究 

分 类 号：R714.55[医药卫生—妇产科学]