单核苷酸多态性微阵列技术在早期胎停育流产绒毛组织检测中的应用  

Application of single nucleotide polymorphism array in detection of villi tissue in early suspending embryo growth

作　　者：崔静静 王莉[1] 吴青青[1] 王晶晶[1] 陈素文[1] 马玉庆[1] 姚苓[1] 李晓菲[1] 张丽娜[1] 邓笛[1] 孙娟 CUI Jing-jing;WANG Li*;WU Qing-qing;WANG Jing-jing;CHEN Su-wen;MA Yu-qing;YAO Ling;LI Xiao-fei;ZHANG Li-na;DENG Di;SUN Juan(Department of Ultrasound,Beijing Obstetrics and Gynecology Hospital of Capital Medical University,Beijing 100026,China)

机构地区：[1]首都医科大学附属北京妇产医院超声科

出　　处：《中国医刊》2019年第12期1331-1335,共5页Chinese Journal of Medicine

基　　金：北京市教委课题（KM201710025022）;北京市医院管理局“登峰”计划专项经费资助（DFL20151302）

摘　　要：目的探讨单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP-array)技术在早期胎停育遗传学病因诊断中的应用价值。方法收集2018年1月至2019年2月妊娠12周以前在首都医科大学附属北京妇产医院明确诊断胎停育并行人工流产术的患者28例为胎停育组,同时收集正常妊娠要求人工流产终止妊娠的患者10例作为对照组。两组患者术后留取绒毛组织标本进行SNP-array检测。结果胎停育组中23例(82.1%)SNP-array检测结果显示染色体异常,其中21例(91.3%)为染色体数目异常。高龄孕妇与非高龄孕妇的染色体异常发生率比较差异无显著性(P>0.05)。重复胎停育组与首次胎停育组的染色体异常发生率和年龄比较差异无显著性(P>0.05)。胎停育组与对照组患者年龄比较差异有显著性(P=0.035)。结论①胚胎染色体异常是导致早期胎停育的主要原因之一;②胚胎染色体异常最常见的类型是染色体数目异常;③早期胎停育染色体异常与孕妇年龄无直接相关性;④早期胎停育染色体异常与胎停育次数无直接相关性。Objective To explore the application value of single nucleotide polymorphism array(SNP-array)in the genetic etiological diagnosis of early suspending embryo growth.Method Patients who had been diagnosed with suspending embryo growth before 12 weeks of gestation in Beijing Obstetrics and Gynecology Hospital,Capital Medical University from January 2018 to February 2019,were included in the abortion group.Patients with normal pregnancy requiring abortion to terminate pregnancy were collected as control group.Collection the villus tissue samples after operation and detection by the techniques of SNP-array.Result In the abortion group,23 cases(82.1%)showed chromosomal abnormalities,21 cases(91.3%)showed chromosome number abnormality.There was no significant difference in the incidence of chromosomal abnormalities between the elderly group and the non-elderly group(P>0.05).There was no significant difference in age composition and the incidence of chromosomal abnormalities between the recurrent abortion group and the first abortion group(P>0.05).There was significant difference in the age composition ratio between the abortion group and the control group(P=0.035).Conclusion①Chromosome abnormality of embryo is one of the main causes of early abortion.②The most common type of chromosome abnormality in embryos is chromosome number abnormality.③There is no direct correlation between chromosomal abnormalities of early abortion and the age of pregnant women.④There is no direct correlation between chromosomal abnormalities of early abortion and the number of abortions.

关 键 词：胎停育 单核苷酸多态性微阵列技术 染色体异常 

分 类 号：R715.5[医药卫生—妇产科学]