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胎儿心脏横纹肌瘤的产前诊断及临床结局分析

Prenatal diagnosis and clinical outcome analysis of fetal cardiac rhabdomyoma
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摘要 目的:探讨胎儿心脏横纹肌瘤的产前超声诊断特点与临床结局。方法:回顾性分析2016年8月至2019年8月重庆医科大学附属第一医院产前诊断的15例胎儿心脏横纹肌瘤超声特点,并随访其临床结局。结果:15例胎儿心脏横纹肌瘤中,8例(53.3%)为单发,7例(46.7%)为多发,好发部位以左心室最为常见,产前超声均表现为均匀的强回声团。13例(86.7%)产前超声未发现合并畸形,1例产前超声合并室间隔缺损,1例产前超声合并脑实质内多发结节。妊娠结局:9例(60.0%)引产,5例(33.3%)足月分娩,1例失访。5例足月分娩患儿中,3例患儿心脏横纹肌瘤现仍存在,并未发现结节性硬化症(tuberous sclerosis complex,TSC);1例心脏横纹肌瘤消失且未发现其他异常,1例出现多发TSC。结论 :胎儿心脏横纹肌瘤产前超声有较典型特征,表现为心腔内单发或多发的类圆形、均匀强回声团块,边界清晰,附着于室壁或室间隔。不合并TSC时预后良好,临床工作中需加强医患沟通,结合磁共振成像(magnetic resonance imaging,MRI)和基因检测来指导其预后。 Objective :To investigate the characteristics and clinical outcomes of prenatal ultrasound diagnosis of fetal cardiac rhabdomyoma. Methods:The ultrasonographic characteristics and clinical outcomes of 15 fetuses with prenatal diagnosis of cardiac rhabdomyoma in our hospital from August 2016 to August 2019 were retrospectively analyzed. Results:In 15 fetuses with cardiac rhabdomyoma,8 cases(53.3%) were single and 7 cases(46.7%) were multiple,with left ventricle as most common favorite site,and prenatal ultrasound showed uniform hyperechoic mass. The other structural malformation were not detected in 13 fetuses(86.7%),1 case accompanied with ventricular septal defect and 1 case with multiple nodules in the brain parenchyma. Pregnancy outcome :9 fetuses(60.0%) were terminated,5 fetuses(33.3%) delivered at term,and 1 fetus lost follow-up. In the 5 full-term delivered fetuses,cardiac rhabdomyoma still presented in 3 cases,and tuberous sclerosis complex(TSC) were not found. Cardiac rhabdomyoma disappeared in 1 case and no other abnormalities were found,and TSC in many organs were found in 1 case. Conclusion:Prenatal ultrasound of fetal cardiac rhabdomyoma has typical features:single or multiple round-like,uniform echogenic masses in the heart cavity,well-demarcated,and attached to the ventricular wall or septum. The condition without TSC has good prognosis,and its prognosis can be guided by strengthening doctor-patient communication in clinical work,combined with magnetic resonance imaging(MRI) and genetic test.
作者 王星 张兰 黄帅 曹赤颖 李俊男 漆洪波 Wang Xing;Zhang Lan;Huang Shuai;Cao Chiying;Li Junnan;Qi Hongbo(Department of Obstetrics,The First Affiliated Hospital of Chongqing Medical University)
出处 《重庆医科大学学报》 CAS CSCD 北大核心 2021年第12期1516-1519,共4页 Journal of Chongqing Medical University
基金 国家重点研发计划资助项目(编号:2018YFC1002904)。
关键词 胎儿 横纹肌瘤 结节性硬化症 产前诊断 fetus rhabdomyoma tuberous sclerosis complex prenatal diagnosis
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