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.

Material and methods: We report on three female fetuses detected of having ACC and additional findings were suggestive for the presence of Aicardi Syndrome.

Results: In these fetuses the additional findings suggestive for the presence of Aicardi Syndrome, were: in two cases an interhemispheric cyst, one combined with choroid plexus cyst, and in one case bilateral polymicrogyria of the frontal cortex. In the third case it was brain assymmetry with polymicrogyria. In all three cases the patients decided for termination of pregnancy.

Conclusion: The detection of ACC in a female fetuse should prompt for the targeted examination of the cortex, brain assymmetry, colobomas and ocular anomalies, and cysts of the midline. The combination with some of these finding could suggest the presence of Aicardi Syndrome. Molecular genetic diagnosis is not yet available.