Prenatal Diagnosis of Aicardi Syndrome

Purpose: To describe features characteristic for the possible presence of Aicardi Syndrome in the fetus. This syndome is a rare disorder occurring only in girls and characterized by the triad of dysgenesis of the corpus callosum (ACC), lacunae of the retina and infantile spasms associated with severe handicap. Whereas an ACC can be diagnosed in the fetus, the other criteria can be recognized after birth. Recently, however, additional signs were accepted as major and minor criteria and include brain asymmetry with polymicrogyria, intracerebral cysts (interhemispheric, choroid plexus cysts), ventriculomegaly, microphthalmia and skeletal findings.