产前超声诊断胎儿心脏横纹肌瘤的价值

The Value of Prenatal Ultrasound in Diagnosis of Fetal Cardiac Rhabdomyoma

目的:探讨胎儿心脏横纹肌瘤(cardiac rhabdomyoma,CR)在超声心动图上的表现特征。方法:对2018年6月~2022年6月经本院产前超声检查诊断为CR的18例胎儿的超声图像及其他相关检查情况进行回顾性分析。结果:单发为6例(33.3%,6/18),多发为12例(66.7%,12/18)。6例胎儿在超声或MR图像上发现了颅内异常结节。有5例胎儿在产前进一步行相关基因检测,其中有3例证实为TSC基因突变,共有8例(44.4%,8/18)符合结节性硬化症(tuberous sclerosis complex,TSC)的诊断。18例胎儿中,14例选择引产,2例继续妊娠,另有2例胎儿失访。结论:超声心动图对CR的诊断具有重要价值,结合MR及TSC相关基因检测,可以为患者提供更全面的产前咨询及预后评估。

Objective:To explore the echocardiography features of fetal cardiac rhabdomyoma(CR).Methods:The ultrasound images and other relevant examinations of 18 fetuses diagnosed as CR by prenatal ultrasound from June 2018 to June 2022 in our hospital were analyzed retrospectively.Results:6 cases(33.3%,6/18)were single,12 cases(66.7%,12/18)were multiple.Abnormal intracranial nodules were found in 6 fetuses on ultrasound or MR images.5 fetuses underwent the relevant genetic analysis,of which 3 were found to have TSC gene mutations,and a total of 8(44.4%,8/18)conformed to the diagnosis of tuberous sclerosis complex(TSC).Among 18 fetuses,14 fetuses were induced,2 fetuses continued pregnancy,and 2 fetuses were lost to follow-up.Conclusion:Echocardiography is of great value in the diagnosis of CR,combined with the results of fetal MR and TSC related gene testing,it can provide more comprehensive prenatal counseling and prognosis assessment for patients.