58例胎儿室间隔缺损的产前诊断分析  

Prenatal diagnosis analysis of 58 fetuses with ventricular septal defect

作　　者：师园园 刘学军[1] 刘慈[1] 马良[1] 刘芸兰 SHI Yuan-yuan;LIU Xue-jun;LIU Ci;MA Liang;LIU Yun-lan(The Second Hospital of Hebei Medical University Shijiazhuang Hebei 050000,China)

机构地区：[1]河北医科大学第二医院妇产超声诊疗科遗传室

出　　处：《中国优生与遗传杂志》2019年第8期984-985,996,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的通过中孕期胎儿超声心动图示室间隔缺损的产前诊断分析,探讨胎儿室间隔缺损的病因及临床处理方案,对该类胎儿的围产期管理提供参考。方法收集2017年1月到2018年12月在我院因胎儿超声心动图示室间隔缺损而行产前诊断的58例孕妇的临床资料,对胎儿进行染色体核型分析和染色体拷贝数变异检测。结果 58例室间隔缺损胎儿中,单纯室缺41例,合并其它异常17例;染色体数目异常5例,其中18三体2例,21三体3例。5例染色体数目异常胎儿均引产。染色体结构异常6例,其中2例染色体核型分析和拷贝数变异检测均有异常,且有明确致病性,2例染色体核型分析未见异常,拷贝数变异有异常,且明确致病性,这4例胎儿均引产,2例染色体核型分析未见异常,拷贝数变异有异常,但致病性不明确。结论对于胎儿超声心动图示室间隔缺损的孕妇行产前诊断,可以发现染色体异常胎儿,对降低异常胎儿的出生率具有重要意义。Objective:Through prenatal diagnosis analysis of ventricular septal defect(VSD)in fetal echocardiography(echocardiography)during mid-pregnancy,to investigate the causes and clinical treatment of ventricular septal defect(VSD)in fetuses with echocardiography during the middle pregnancy,and to provide reference for perinatal management of this kind of fetuses. Methods:Clinical data of 58 pregnant women who underwent prenatal diagnosis of ventricular septal defect due to fetal echocardiography in our hospital from January 2017 to December 2018 were collected,and chromosome karyotype analysis and chromosome copy number variation detection were performed on the fetus. Results:Among 58 fetuses with ventricular septal defect,41 had simple ventricular absence and 17 had other abnormalities. Chromosome number was abnormal in 5 cases,including 2 cases of 18 trisomy and 3 cases of 21 trisomy. All 5 fetuses with abnormal chromosome number induced labor. Abnormal chromosome structure 6 cases,2 cases of karyotype analysis and copy number variation detection were abnormal,2 cases of abnormal karyotype analysis did not see,copy number variation is abnormal,and clear pathogenic,4 cases of fetal induced labor,2 cases of abnormal karyotype analysis did not see,copy number variation is abnormal,but not clear pathogenic. Conclusion:Through prenatal diagnosis of fetal echocardiography of ventricular septal defect in pregnant women,chromosome abnormalities can be found in fetuses to reduce the birth rate of abnormal fetuses.

关 键 词：胎儿室间隔缺损 染色体 拷贝数变异 

分 类 号：R714.55[医药卫生—妇产科学]