产前超声心动图诊断胎儿心脏肿瘤

目的 探讨胎儿心脏肿瘤的超声心动图特征、遗传学检测结果及预后。方法 回顾性分析55胎心脏肿瘤胎儿的超声心动图资料,观察其超声特征。对终止妊娠胎儿行病理学检查和遗传学检测;对新生儿取外周血行遗传学检测,并进行随访。结果 55胎心脏肿瘤胎儿中,37胎终止妊娠,7胎出生,11胎失访;其中单发心脏肿瘤14胎,多发心脏肿瘤41胎。28胎接受病理学检查,其中心脏横纹肌瘤27胎,血管瘤1胎。胎儿心脏横纹肌瘤超声表现为类圆形肿物,略高回声,附着于心房或心室壁并突入心腔内,肿物内无血流信号。对24胎终止妊娠胎儿行结节性硬化症（TSC）基因测序,19胎阳性,5胎阴性。7例出生患儿中,4例肿瘤自然消退,3例肿瘤持续存在;TSC基因阳性2例,阴性1例。结论 横纹肌瘤是最常见的胎儿心脏肿瘤,多发者应高度怀疑TSC,并建议行基因检测以明确诊断。

Prenatal echocardiography in diagnosis of fetal cardiac tumors

Objective To observe the echocardiographic characteristics, genetic test and outcome of fetal cardiac tumors. Methods Echocardiographic data of 55 fetuses with cardiac tumors were retrospectively analyzed, and the echocardiographic characteristics were observed. Pathological and genetic test were performed on terminated fetuses. Peripheral blood was obtained from newborns for genetic test, and followed up was performed. Results In 55 fetuses with cardiac tumors, 37 fetuses were terminated, 7 fetuses were delivered and 11 fetuses were lost in follow-up. Solitary tumor was found in 14 fetuses, while multiple tumors were detected in 41 fetuses. Pathological examination was performed on 28 fetuses after termination, and 27 rhabdomyomas and 1 hemangioma were diagnosed. Fetal rhabdomyomas were found hyperechogenic, well demarcated and ovoid lesion, located at atrial and ventricular wall without blood flow with ultrasound. Tuberous sclerosis complex (TSC) genetic test was made in 24 terminated fetuses, and 19 positive and 5 negative results were obtained. In 7 newborns, spontaneous tumor regression occurred in 4 and tumor persistent in 3, while TSC genetic test positive in 2 and negative in 1 were detected. Conclusion Rhabdomyoma is the most common cardiac tumor in fetuses. Fetuses with multiple rhabdomyomas might be highly suspected of TSC, and then genetic test should be suggested.