Prenatal diagnosis of tuberous sclerosis complex: Echocardiography, cranial magnetic resonance, and genetic testing of 40 cases with fetal cardiac tumors

Abstract

ObjectiveTo 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. MethodsFetal 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. ResultsA 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. ConclusionFetal 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.