双胎妊娠合并胎儿染色体异常的产前诊断方法  

Prenatal diagnosis of twin pregnancy with fetal chromosome abnormalities

作　　者：郑娇 宋婷婷 徐盈 李佳 杨红 ZHENG Jiao;SONG Tingting;XU Ying;LI Jia;YANG Hong(Department of Gynecology and Obstetrics, Xijing Hospital, The Fourth Military Medical University, Xi’an 710032, China)

机构地区：[1]空军军医大学第一附属医院妇产科,陕西西安710032

出　　处：《西部医学》2022年第1期100-103,108,共5页Medical Journal of West China

基　　金：国家重点研发计划重大科学仪器设备开发重点专项子课题(2018YFF01012100);陕西省高校联合项目(2020GXLH-Y-009);西京医院学科助推科技成果孵育后补助自助(XJZT19H03)。

摘　　要：目的探讨双胎妊娠合并胎儿染色体异常的产前诊断方法。方法选取2014年1月~2020年7月来我院进行遗传咨询后行羊水穿刺的22466例患者的产前诊断病历资料,采用回顾性研究方法对其产前诊断方法、染色体结果及妊娠结局进行分析。结果在成功培养的22466例产前诊断样本中,其中双胎孕妇353例,检出染色体异常15例,异常检出率是4.25%。其中21三体及其嵌合体10例,性染色体异常3例,结构异常4例,标记染色体1例。在染色体核型正常的338个胎儿中,染色体微阵列分析(CMA)结果异常40例,其中可能致病2例,意义不明确3例。联合两种检测方法结果353例双胎共检测出异常胎儿22个,总异常率为6.23%。结论对于双胎妊娠,介入性产前诊断是检测胎儿染色体异常及遗传病的有效手段,能有效避免出生缺陷发生,具有重要的临床应用价值。Objective To explore the prenatal diagnosis of twin pregnancy with fetal chromosome abnormality.Methods The prenatal diagnostic medical records of 22,466 patients who came to our hospital for genetic consultation and underwent amniocentesis were selected from January 2014 to August 2020,and the prenatal diagnostic methods,chromosome results and pregnancy outcomes were analyzed by retrospective study.Results Among the 22466 prenatal diagnosis samples successfully cultured,353 cases of twin pregnant women were detected,15 cases of chromosomal abnormalities were detected,and the abnormal detection rate was 4.25%.Among them,there were 10 cases of trisomy 21 include mosaicism,3 cases of sex chromosome abnormalities,4 cases of structural abnormalities,and 1 case of marked chromosomes.Among the 338 fetuses with normal karyotypes,40 cases of chromosome microarray analysis(CMA)were abnormal,including 2 cases of possible disease and 3 cases of unclear significance.Combining the two detection methods of CMA and karyotype,a total of 22 abnormal fetuses were detected in 353 twins,with a total abnormality rate of 6.23%.Conclusion For twin pregnancy,interventional prenatal diagnosis is an effective method for detecting fetal chromosomal abnormalities and genetic diseases.It is can effectively avoid birth defects,and has important clinical application value.

关 键 词：双胎妊娠 介入性产前诊断 染色体核型 染色体畸变 

分 类 号：R714.23[医药卫生—妇产科学]