Modern aspects of antenatal ultrasound and molecular genetic diagnosis of tuberous sclerosis

Objective. To improve the effectiveness of antenatal echographic and molecular genetic diagnosis of tuberous sclerosis. Materials and methods. The authors analyzed 13 cases of antenatal detection of cardiac rhabdomyoma at 20 to 36 weeks’ gestation in pregnant women who had undergone perinatal consultation at the Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology in October 2017 to March 2020. All the fetuses had undergone neurosonography in order to detect brain diseases associated with tuberous sclerosis. Clinical data on the condition of the babies born and the results of a molecular genetic study to detect mutations in the TSC1 and TSC2 genes were obtained in 9 cases. Results. Primary echographic imaging of rhabdomyoma was observed in 69% of cases in the third trimester. Echography detected multiple subcortical tubers in the brain in half (5/10) of the fetuses with multiple cardiac rhabdomyomas. Follow-up analysis revealed subcortical and subependymal tubers, as well as mutations in the TSC1 and TSC2 genes in 6 infants with multiple cardiac rhabdomyomas. Conclusion. Echographic detection of tubers in the brain of fetuses with multiple cardiac rhabdomyomas substantially increases the risk of tuberous sclerosis. For early tuberous sclerosis diagnosis, it is necessary to search for new echographic markers, including brain diseases before the beginning of sulcation processes.

tuberous sclerosis, cardiac rhabdomyoma, brain tubers, TSC1 and TSC2 mutations