探讨超声心动图诊断胎儿心脏横纹肌瘤(CR)的临床价值。

选取2013年1月30日至2018年1月30日，于乐山市人民医院经胎儿超声心动图诊断为CR的12例胎儿为研究对象。采用回顾性分析方法，分析这12例CR胎儿的超声心动图特征、尸体解剖或继续妊娠受试儿分娩后进一步诊断结果。对于超声心动图诊断CR胎儿的胎龄、肿瘤最大直径等正态分布的计量资料，采用±s表示。本研究对胎儿进行超声心动图检查，对引产胎儿进行尸体解剖，对分娩后受试儿进行影像学检查，均征得孕妇本人及受试儿监护人同意，并签署临床研究知情同意书。本研究遵循的程序符合2013年修订的《世界医学会赫尔辛基宣言》要求。

①本组12例胎儿被诊断为CR时，胎龄为(27.3±4.3)周；妊娠结局：被诊断为CR后，5例胎儿被引产，7例继续妊娠并分娩；单发性CR为3例，多发性CR为9例；肿瘤最大直径为(5.0±1.1) mm，以左心室CR多见；超声心动图特征：CR呈均匀强回声团，边界清晰，回声团基底较宽。②尸体解剖及心肌组织病理学检查结果(5例引产胎儿)：经尸体解剖、心肌组织病理学检查均确诊为CR，并且均于侧脑室发现灰白色结节，而被诊断为胎儿结节性硬化症(TSC)。③继续妊娠受试儿分娩后进一步诊断结果(7例继续妊娠并分娩受试儿)：2例于出生后6个月内，经MRI确诊为单纯性CR，5例经CT、MRI确诊为CR合并TSC。出生后6个月时，这7例受试儿的心室内强回声团均未消退，但是均未引起心脏流入道或流出道梗阻，仅1例出现室上性心动过速。

超声心动图可为CR胎儿的产前诊断、咨询和预后评估提供重要依据，具有重要临床价值。因本研究纳入样本量相对较小，并且仅为回顾性、描述性研究，超声心动图对于CR胎儿的诊断价值，仍有待大样本、多中心、前瞻性研究进一步证实。

To assess the clinical values of echocardiography in the diagnosis of fetal cardiac rhabdomyoma (CR).

From January 30, 2013 to January 30, 2018, a total of 12 fetuses diagnosed as CR by fetal echocardiography at Leshan People′s Hospital were selected as the research subjects. The echocardiography manifestations, autopsy or postpartum follow-up of those 12 fetuses with CR were analyzed by retrospective analysis method. The measurement data with normal distribution, such as the gestational age at the diagnosis of CR by echocardiography and the maximum diameter of tumor were expressed by ±s. All the pregnant women and her family agreed receiving fetal echocardiography, conducting autopsy on the induced fetus, conducting imaging examinations on the infants, and they signed the informed consent forms. The procedures in this study were in line with the requirements of the World Medical Association Declaration of Helsinki revised in 2013.

①Among the 12 fetuses with CR, the gestational age at the initial diagnosis of CR was (27.3±4.3) weeks. After being diagnosed as CR by fetal echocardiography, 5 fetuses were induced, 7 fetuses continued to be born. There were 3 fetuses with single tumor and 9 fetuses with multiple tumors. The maximum diameter of the tumor was (5.0±1.1) mm, and the tumors were more common in the left ventricle. The fetal CR in echocardiography was characterized by hyperechoic mass with clear boundary and wide base. ②Five cases of induced fetuses were confirmed to be CR by autopsy and myocardial histopathological examination. And gray nodules were found in the lateral ventricles of these 5 fetuses and they were diagnosed as fetal tuberous sclerosis (TSC). ③Seven fetuses were born, and the follow-up results of them within 6 months after birth showed that 2 cases were diagnosed as simple CR by MRI, and 5 cases were diagnosed as CR combined with TSC by CT and MRI. During the follow-up to 6 months after birth, the hyperechoic mass in the heart ventricles of those 7 infants did not regress, but the mass did not lead to cardiac inflow or outflow obstruction, and only 1 case occurred supraventricular tachycardia.

Echocardiography can provide an important basis for the prenatal diagnosis, consultation and prognosis evaluation of CR fetus, and has important clinical values. Because the sample size of this study is relatively small and this study is just a retrospective and descriptive study, the clinical values of echocardiography in the diagnosis of fetal CR remains to be confirmed by large-sample, multi-center, prospective studies.