Abstract
To evaluate the neurosonographic abnormalities in a group of fetuses that meets diagnostic criteria for tuberous sclerosis complex (TSC). A review of the literature and potential advantages of prenatal diagnosis of these anomalies are also discussed. Eight fetuses with multiple cardiac rhabdomyoma and cortical hamartomas (CH), subependymal nodules (SEN), subependymal giant cell tumours (SGCT) and/or abnormalities of the white matter including linear white matter lesions (LWML), from two referral centres, were included. Fetal neurosonographic images, videoclips and 3D volumes were compared with neonatal/pediatric evolution or post-mortem examination. Magnetic resonance imaging (MRI) was performed in 7/8 cases. MRI confirmed the following fetal neurosonography findings: 7/8 cases with CH, 4/8 with SEN and 3/8 with SGCT. LWML were suspected in 3/8 vaginal neurosonography, and irregular white matter and periventricular echogenicity in other 2. Three cases opted for termination of pregnancy and lesions were confirmed histologically. The remaining reached term and were followed postnatally. An accurate diagnosis of the spectrum of fetal brain lesions included in TSC is feasible by neurosonography and the findings were similar to those obtained by MRI. Considering the correlation between the number of lesions and prognosis in TSC, correct diagnosis through neurosonography allowed an appropriate prenatal counselling to parents. Moreover, there is a growing consensus that the diagnosis of TSC cerebral lesions is important in reducing the morbidity of the disease, through the selection of patients for early postnatal treatment.
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