MAGNETIC RESONANCE IMAGING IMPROVES PRENATAL DIAGNOSIS OF TUBEROUS SCLEROSIS

SUMMARY. Tuberous sclerosis (TS) is a genetically determined, multisystem disorder. There is no consistent correlation between specific TSC gene mutation and clinical outcome. This fact diminishes the value of prenatal TS genetic testing to future infant’s clinical outcome. Authors have shown how imaging techniques could increase accuracy of prenatal diag-nosis. They have described a case of prenatally diagnosed TS by using high frequency real time ultrasound and fetal cra-nial magnetic resonance imaging (MRI) in the second half of an uneventful pregnancy. A 25-year old patient has been studied from 27 weeks of gestation and repeating echocardiographic examinations of the female fetus revealed two solid cardiac tumors. One of them arose from the interventricular septum, while the other from the right atrium. Fetal cranial MRI has been performed at 36 weeks of gestation. Identified signal abnormalities, which correspond to brain hamarto-mas, highly suggested presence of TS in fetus. An infant was born at term by vaginal delivery. At the age of four months West’s syndrome has been diagnosed. In addition, authors discuss an ethical problem that may arise when the fetal tests reveal presence of TS. Prikaz bolesnice Klju~ne rije~i: tuberozna skleroza, prenatalna dijagnoza, ultrazvuk, magnetska rezonanca, savjetovanj