染色体核型分析联合微阵列分析技术在产前诊断的应用价值  

The application of combined karyotype analysis and chromosome microarray in prenatal diagnosis

作　　者：黄婷婷[1] 黎俏 袁慧珍[1] 王欣荣[1] 刘艳秋[1] HUANG Tingting;LI Qiao;YUAN Huizhen;WANG Xinrong;LIU Yanqiu(Department of Medical Genetics,Jiangxi Maternal and Child Health Hospital,Nanchang 330006,China)

机构地区：[1]江西省妇幼保健院医学遗传中心,南昌330006

出　　处：《实用医学杂志》2022年第11期1419-1423,共5页The Journal of Practical Medicine

基　　金：江西省卫生健康委科技计划项目(编号:202211116)。

摘　　要：目的 探讨染色体核型分析联合染色体微阵列分析(chromosome microarray analysis,CMA)技术在产前诊断应用中的价值。方法 回顾性分析本院2020年1月至2021年12月共4 854例孕妇因不同指征在江西省妇幼保健院医学遗传中心行有创性产前诊断,比较染色体核型分析和CMA检测结果。结果 4 854例产前胎儿样本共检出848例染色体异常,异常检出率为17.47%,其中540例为致病性染色体异常,致病性染色体异常检出率达11.12%。通过CMA检出151例致病性拷贝数变异(copy number variations,CNVs)或可能致病性CNVs,其中108例为染色体核型正常,与传统染色体核型分析技术相比,CMA增加检出2.22%致病或可能致病CNVs。染色体核型分析发现有75例平衡重排携带者,而CMA检测结果未见明显异常;另发现9例染色体核型分析与CMA结果不一致情况。结论 传统染色体核型分析联合CMA技术可以提高胎儿异常染色体的检出率,两种技术相互补充,为产前遗传咨询提供更详细及准确的信息,为孕妇选择是否继续妊娠提供更客观的依据。Objective The study tried to explore the value of combined karyotype analysis and chromosome microarray analysis(CMA)in clinical application of prenatal diagnosis. Methods A total of 4 854 pregnant women underwent invasive prenatal diagnosis for different indications in the Prenatal Diagnosis Center of Jiangxi Maternal and Child Health Hospital from January 2020 to December 2021,and the test results of karyotype analysis and CMA were analyzed retrospectively. Results A total of 848 cases with chromosomal abnormalities were detected in 4 854 prenatal fetal samples,and the abnormal detection rate was 17.47%. 540 cases of them were detected with pathogenic chromosomal abnormalities,with a detection rate of 11.12%. 151 cases with pathogenic copy number variations(CNVs)and likely pathogenic CNVs were detected by CMA,while 108 cases of these had normal karyotypes. Therefore,a detection rate of 2.22% increased by CMA for fetal pathogenic chromosomal abnormality compared with traditional karyotype analysis. 75 cases with balanced translocation were detected by karyotype analysis but showed no obvious abnormality by CMA. Furthermore,9 cases were detected with inconsistent results by karyotype analysis and CMA. Conclusions Combined CMA and traditional karyotype analysis improved the detection rate of fetal chromosomal abnormalities and they complemented each other,which would provide more detailed and accurate information for prenatal diagnosis and genetic counseling as well as a more objective basis of continue pregnancy for these pregnant women.

关 键 词：染色体异常 染色体微阵列分析 产前诊断 额外小标记染色体 

分 类 号：R715.5[医药卫生—妇产科学]