Prenatal diagnosis of fetal tuberous sclerosis complex with ultrasonography and magnetic resonance imaging / 中华医学超声杂志（电子版）

ABSTRACT

ObjectiveTo explore the imaging features of fetal tuberous sclerosis complex by ultrasonography and magnetic resonance imaging.MethodsRetrospective analysis on the imaging characteristics of the 10 cases of fetuses confirmed as tuberous sclerosis complex who were examined in Hubei Maternal and Child Healthcare Hospital in July 2013 to December 2014 by ultrasonography and MRI, which was compared with the pathological data of specimens and follow-up after birth.ResultsEighteen cases were diagnosed as fetal cardiac rhabdomyoma by ultrasonography among all of the 996 fetuses, in which lesions were located on the ventricular wall near septum or elsewhere in the heart cavity on ultrasonography. Fetal cardiac rhabdomyoma was characterized by circular, homogeneous high echo (singleton in 4 cases, multiple in 14 cases). Among them no subependymal nodule was found by ultrasonographic. Ten cases of subependymal nodule were found by magnetic resonance imaging, which were diagnosed as tuberous sclerosis complex with cardiac rhabdomyomas, including 3 cases of brain subcortical tubers. The subependymal nodules under the lateral ventricle wall showed characteristic low signal nodules on T2WI, protruding from the ependymal surface. Of 18 cases, only 4 cases of fetal cardiac rhabdomyoma were found by MRI. Nine cases of ifnally had termination of pregnancy. Two cases were conifrmed as cardiac rhabdomyoma with intracranial nodules after pathological examination, and 1 case was conifrmed as tuberous sclerosis complex after birth. ConclusionsPrenatal ultrasonography can diagnose fetal cardiac rhabdomyoma successfully, and MRI can diagnose the fetal brain nodules sensitively. Once ultrasonography finds cardiac rhabdomyoma, it may be promising to diagnose fetal tuberous sclerosis complex by ultrasonography combined with MRI.