232例孕妇孕中晚期产前诊断基因芯片结果分析  

Analysis of prenatal diagnosis results of 232 pregnant women in middle and late pregnancy by gene chip

作　　者：曹娟[1] 陈虹[1] 田丽蕴[1] 陈安儿[1] 屈煜[1] 闫露露[1] CAO Juan;CHEN Hong;TIAN Li-yun;CHEN An-er;QU Yu;YAN Lu-lu(Ningbo Women and Children's Hospital,Ningbo,Zhejiang 315000,China)

机构地区：[1]宁波市妇女儿童医院,浙江宁波315000

出　　处：《中国卫生检验杂志》2021年第4期385-388,396,共5页Chinese Journal of Health Laboratory Technology

基　　金：宁波市科技计划项目(2013C50010);宁波市科技计划项目(2014B82003)。

摘　　要：目的探讨单核苷酸多态性芯片(SNP array)技术在孕中晚期产前诊断中的临床应用及意义。方法选择2017年8月-2018年5月在宁波市妇女儿童医院胎儿医学中心对孕中晚期有介入性产前诊断指征的孕妇进行羊膜腔穿刺或脐血穿刺术共232例(其中羊膜腔穿刺术209例和脐血穿刺术23例),采用单核苷酸多态性芯片技术进行分析,并与传统的染色体核型结果相比较,分析比较在产前诊断的临床应用。结果 232例羊水和脐血标本全部成功获得了染色体核型及芯片检测结果,检测成功率均为100%。芯片检出染色体异常49例,异常率为21.12%;核型分析异常24例,异常率为10.34%,对比与核型分析异常率,总体多检出了10.78%。而在核型分析正常样本中,染色体微阵列分析CMA比核型分析额外多检出13.79%。在基因芯片提示的49例染色体异常中,染色体非整倍体数目异常的总共有7例;染色体数目拷贝数变异的有42例,大片段异常(> 10 Mb) 9例,其中重复6例,杂合性缺失(单亲二倍体) 2例,缺失1例;小片段异常(<10 Mb) 33例,其中微重复17例,微缺失13例,同时存在缺失和重复2例,杂合性重复1例。结论 SNP array技术可以有效地分析胎儿染色体的变异,与传统的染色体核型分析相比具有一定的优势,在产前诊断中具有重要的临床应用价值。Objective To investigate the clinical application and significance of single nucleotide polymorphism chip(SNP)in prenatal diagnosis of middle and late pregnancy.Methods From August 2017 to May 2018,232 cases of pregnant women with interventional prenatal diagnosis in the middle and late stages of pregnancy were selected for amniocentesis or umbilical blood puncture(including 209 cases of amniocentesis and 23 cases of umbilical blood puncture).The single nucleotide polymorphism chip technique was used to analyze the clinical application of prenatal diagnosis compared with the traditional karyotype results.Results All 232 amniotic fluid and umbilical cord blood specimens successfully obtained chromosome karyotype and chip detection results,and the detection success rate was 100%.49 cases of chromosomal abnormalities were detected with an abnormal rate of 21.12%;In 25 cases of abnormal nuclear analysis,the abnormal rate was 10.34%.Compared with the abnormal rate of nuclear analysis,10.78%more were detected.In the normal sample of nuclear type analysis,CMA detected 13.79%more than nuclear type analysis.Of the 49 chromosomal abnormalities prompted by gene chips,there were a total of 7 cases of chromosome non-integrosome abnormalities;there were 42 cases of chromosome number copy number variation,large fragment anomaly(>10 Mb)9 cases,including 6 repeated cases,2 cases of heterozygous deficiency(single parent diploid),1 missing case;of 33 cases of small fragment exception(<10Mb),17 were microduplicates,13 were microdefects,2 were defects and duplications,and 1 was heterozygous.Conclusion SNP array technology can effectively analyze the chromosome variation of fetus,which has certain advantages compared with the traditional chromosome karyotype analysis,and has important clinical application value in prenatal diagnosis.

关 键 词：基因芯片 孕中晚期 羊膜腔穿刺 脐血穿刺 核型分析 

分 类 号：R715[医药卫生—妇产科学]