1702例早孕绒毛细胞培养及细胞遗传学分析  

Chorionic villus sampling and cytogenetic analysis of 1 702 cases

作　　者：郝娜[1] 田晓彤 周京[1] 戚庆炜[1] 蒋宇林[1] 周希亚[1] 刘俊涛[1] HAO Na;TIAN Xiao-tong;ZHOU Jing;QI Qing-wei;JIANG Yu-lin;ZHOU Xi-ya;LIU Jun-tao(Peking Union Medical College Hospital,Peking Union Medical College/Chinese Academy of Medical Sciences,Beijing 100730)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院产科中心,北京100730

出　　处：《生殖医学杂志》2021年第4期426-430,共5页Journal of Reproductive Medicine

基　　金：国家重点研发计划生殖健康及重大出生缺陷防控研究重点专项下属子课题(2018YFC1002704)。

摘　　要：目的探讨早孕期绒毛活检及细胞遗传学分析在产前诊断中的应用。方法回顾性分析2002年4月至2019年9月在北京协和医院产前诊断中心进行早孕期绒毛活检及细胞遗传学检测的1702例患者的临床资料,统计培养成功率及染色体异常率,并对其诊断指征进行分析。结果1702例绒毛组织标本中,培养成功1602例,成功率为94.12%。穿刺的临床指征中以高龄妊娠(43.60%)和单基因病史(29.14%)为多见。检出染色体核型异常共161例,异常率10.05%,其中纯合型异常核型有153例,嵌合型异常核型有8例,包括21-三体53例、18-三体39例、13-三体10例、性染色体异常31例、其他常染色体数目异常9例、染色体结构异常17例、多倍体2例。染色体异常发生率最高的是夫妻染色体异常组,染色体异常率39.13%(9/23);其次是早孕期超声异常组,染色体异常率35.14%(110/313);单基因病产前诊断的464例样本中,检出6例染色体异常。1702例绒毛样本中取材后胎儿丢失5例,流产率0.29%。结论早孕期绒毛活检及核型分析能够有效提前产前诊断时间,尤其适用于单基因病孕史及早孕期超声异常的产前诊断。绒毛组织培养可以获得较高的培养成功率,失败原因多见于样本量少及细胞活性欠佳。绒毛染色体嵌合时要警惕胎儿与胎盘染色体不一致的情况。Objective:To discuss the application of chorionic villus sampling(CVS)and cytogenetic analysis in prenatal diagnosis in early pregnancy.Methods:1702 cases with CVS and cytogenetic analysis in Peking Union Medical College Hospital from April 2002 to September 2019 were analyzed retrospectively.The success rate of culture and the incidence of chromosomal abnormality were determined.Results:Among the 1702 cases,villi in 1602 cases were successfully cultured,with a success rate of 94.12%.The indications were mostly advanced maternal age(43.60%)and Mendelian disorders(29.14%).Among them,there were 161 cases of abnormal karyotype,with an abnormal rate of 10.05%(161/1602).There were 53 cases of trisomy 21,39 cases of trisomy 18,10 cases of trisomy 13,31 cases of sex chromosome abnormalities,9 cases of other autosomal number abnormalities,17 cases of chromosomal structure abnormalities,and 2 cases of polyploidy.The group of parental chromosomal abnormalities had the highest incidence of chromosomal abnormalities(9/23,39.13%),followed by the group of ultrasound abnormalities(110/313,35.14%),and in the group of Mendelian disorders history,the incidence was 6/464.There were 5 cases of fetal loss after CVS(5/1702,0.29%).Conclusions:CVS and karyotyping can move up the time of prenatal diagnosis effectively,thus were particularly suitable for the family with Mendelian disorders history and abnormal ultrasound findings in the early scan.Villi tissue culture in early pregnancy can achieve a high success rate of culture,and the reasons for failure are mostly due to small sample size and poor cell activity.In case there was chromosomal mosaicism in the villi karyotype,it should be aware of the possibility of discordance in the fetus and the placenta.

关 键 词：绒毛活检 核型分析 染色体病 

分 类 号：R715.5[医药卫生—妇产科学]