Background: Tuberous sclerosis complex (TSC) is an autosomal dominant phakomatosis associated with intracardiac rhabdomyomas.
Objective: The aim of our study was to examine the value of cerebral MRI in diagnosing TSC in fetuses with intracardiac rhabdomyomas, applying the TSC Consensus Conference (TSCCC) criteria.
Materials and methods: In a prospective manner six consecutive fetuses with cardiac rhabdomyomas (21-34 weeks' gestation) underwent cerebral MRI. The MRI results were correlated with clinical follow-up at 10-34 months after birth, histology, and genetic data.
Results: In five of the six fetuses the diagnosis of TSC was established. In two of five fetuses MRI demonstrated cerebral manifestations of TSC that correlated well with severe epilepsy manifesting during the follow-up period. In another two of five fetuses MRI as well as clinical follow-up were normal. One of five pregnancies was terminated and histology demonstrated microscopically small subependymal nodules not demonstrated by MRI.
Conclusion: The results of our study agree with the available literature that fetal MRI is sufficient for the detection of cerebral lesions in TSC and should be better promoted. The TSCCC criteria can also be applied to fetal MRI.