Jin Neng, Wu Yan, Meng Qing, Luo Qiong
Department of Obstetrics and Gynecology, Zhejiang University School of Medicine Women's Hospital, Hangzhou City, Zhejiang Province, 310006, China.
Women and Children's Hospital of Jiaxing, Jiaxing City, Zhejiang Province, 314000, China.
Heliyon. 2023 Jun 2;9(6):e16980. doi: 10.1016/j.heliyon.2023.e16980. eCollection 2023 Jun.
To explore the relationship between Tuberous sclerosis complex (TSC) and cardiac tumors at our institution over the past five years and to evaluate the value of imaging technologies and genetic testing in the prenatal diagnosis of TSC.
Fetal echocardiography (FE) was performed in the whole population between 2016 and 2020. Fetuses detected with cardiac tumor(s) were included. Fetal cranial magnetic resonance imaging (MRI) and gene mutation tests were further examined. Those who declined genetic testing were excluded in the final analysis.
A total of 40 fetuses were included in our study. There were 27 cases performed cranial magnetic resonance imaging (MRI) and the rest of 13 cases refused. Among 10 fetuses with cranial lesions detected by MRI, all of them were eventually diagnosed with TSC. And for 17 fetuses without cranial lesions, none of them were identified with a pathogenic variation in gene TSC1/2. The prevalence of TSC was significantly higher in the multiple tumors group than in the solitary group (9/20 vs. 2/20, P = 0.034). 11 fetuses had TSC1 (n = 3) or TSC2 (n = 8) causative or suspected causative mutations, of which 9 were sporadic mutations and 2 were familial mutations.
Fetal cranial MRI should be recommended to evaluate brain lesions, and genetic mutation should be examined, if possible, especially for those with multiple heart tumors. When typical cardiac tumors and cranial lesions are detected, the diagnosis of TSC can almost be made even without genetic mutation results.
探讨我院过去五年结节性硬化症（TSC）与心脏肿瘤之间的关系，并评估影像技术和基因检测在TSC产前诊断中的价值。
对2016年至2020年期间的所有人群进行胎儿超声心动图（FE）检查。纳入检测到有心脏肿瘤的胎儿。进一步进行胎儿头颅磁共振成像（MRI）和基因突变检测。最终分析中排除拒绝基因检测的患者。
本研究共纳入40例胎儿。27例进行了头颅磁共振成像（MRI）检查，其余13例拒绝。在MRI检测到有头颅病变的10例胎儿中，所有胎儿最终均被诊断为TSC。而在17例无头颅病变的胎儿中，均未发现TSC1/2基因的致病变异。多发肿瘤组TSC的患病率显著高于单发肿瘤组（9/20 vs. 2/20，P = 0.034）。11例胎儿有TSC1（n = 3）或TSC2（n = 8）致病或疑似致病突变，其中9例为散发性突变，2例为家族性突变。
应推荐进行胎儿头颅MRI以评估脑部病变，如有可能应进行基因突变检测，尤其是对于有多发性心脏肿瘤的胎儿。当检测到典型的心脏肿瘤和头颅病变时，即使没有基因突变结果，几乎也可做出TSC的诊断。
