复发性自然流产胎儿绒毛染色体微阵列芯片327例分析  

Chromosomal microarray analysis of fetal villus in 327 cases of recurrent spontaneous abortion

作　　者：程丹[1] 杨菁[1] 李洁[1] 张营 陈娇[1] Cheng Dan;Yang Jing;Li Jie;Zhang Ying;Chen Jiao(Center of Reproductive Medicine,Renmin Hospital of Wuhan University,Hubei Clinic Research Center for Assisted Reproductive Technology and Embryonic De-velopment,Wuhan 430060,China)

机构地区：[1]武汉大学人民医院生殖医学中心湖北省辅助生殖与胚胎发育医学临床研究中心,武汉430060

出　　处：《新医学》2018年第11期787-792,共6页Journal of New Medicine

基　　金：中华医学会临床医学科研专项基金-生殖医学青年医师研究与发展项目(17020460715);湖北省卫生计生委青年科技人才项目(WJ2015Q013)

摘　　要：目的对复发性自然流产(RSA)患者流产的绒毛组织进行染色体微阵列分析(CMA),探讨流产胎儿染色体核型与母体状况和RSA的关系。方法收集因RSA行绒毛染色体分析的患者及其绒毛组织,应用CytoScanHD基因芯片进行筛查,记录流产胎儿染色体核型,分析母亲年龄、BMI与流产胎儿染色体核型的关系。结果 CMA分析327例绒毛组织,胎儿染色体异常158例,其中数目异常134例(84.8%)、结构异常24例(15.2%)。数目异常类型包括多倍体17例(10.8%),三体综合征89例(56.3%),Turner综合征26例(16.5%),21号染色体单体2例(1.3%),染色体结构异常中微缺失7例(4.4%),染色体重复15例(9.5%),染色体结构微变异2例(1.3%)。年龄≥35岁者的胎儿染色体异常率高于<35岁者(P<0.01); BMI<18.5、18.5～24.9、>24.9 kg/m2者的胎儿染色体异常率组间比较差异无统计学意义(P>0.05)。结论 RSA与胎儿染色体异常密切相关,其中以染色体数目异常更多见,胎儿染色体异常与母亲年龄有关,而与BMI无关。Objective To investigate the relationship between fetus chromosomal abnormality and maternal status and recurrent spontaneous abortion(RSA)by chromosomal microarray analysis(CMA)of the villus tissues.Methods The villus tissues of RSA patients undergoing CMA were collected and screened by CytoScan HD chips.The incidence and type of abnormal chromosomes of the aborted fetus were recorded.The relationship between maternal age,body mass index(BMI)and the chromosomal abnormality rate was analyzed.Results CMA was performed in the villus tissues of 327 cases and 158 cases were diagnosed with chromosomal abnormality;including 134 cases(84.8%)of chromosomal numerical abnormalities and 24(15.2%)of chromosomal structural abnormalities.The chromosomal numerical abnormalities included polyploid(17 cases,10.8%),trisomy syndrome(89 cases,56.3%),Turner syndrome(26 cases,16.5%)and 21chromatid(2 cases,1.3%).The chromosomal structural abnormalitiesconsisted of chromosomal microdeletion(7 cases,4.4%),chromosomal duplication(15 cases,9.5%)and chromosomal structural microvariation(2 cases,1.3%).The fetal chromosome abnormity rate in patients aged≥35 years was significantly higher than that in their counterparts aged<35 years(P<0.01).The fetal chromosome abnormity rate did not significantly differ among patients with a BMI of<18.5,18.524.9 and>24.9 kg/m2(P>0.05).Conclusions RSA is intimately correlated with the fetal chromosomal abnormality,especially the chromosomal numerical abnormality.The fetal chromosomal abnormalityis associated with maternal age rather than maternal BMI.

关 键 词：复发性流产 绒毛 染色体微阵列分析 核型 

分 类 号：R714.21[医药卫生—妇产科学]