Prenatal diagnosis of tuberous sclerosis complex using fetal ultrasonography and magnetic resonance imaging and genetic testing

Tuberous sclerosis complex (TSC) was first described by von Recklinghausen in 1862 [1]. Tuberous sclerosis is also called TSC because of its diverse clinical manifestations. TSC is extremely variable and unpredictable in terms of disease phenotypes and clinical presentations. Its clinical features are a principal means of diagnosis [1]. TSC is an autosomal dominant disorder that can be associated with multiple major and minor disorders [2]. The estimated incidence of TSC is about 1 in 10,000 person/year with a prevalence between 1 in 6800 –17,300 person/year [3].
Source: Taiwanese Journal of Obstetrics and Gynecology - Category: OBGYN Authors: Tags: Research Letter Source Type: research