Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series

Léo Pomar, José Ochoa, Sara Cabet, Thierry A.G.M. Huisman, Dario Paladini, Philipp Klaritsch, Aurore Galmiche, Florian Prayer, Sebastián Gacio, Karina Haratz, Gustavo Malinger, Tim Van Mieghem, David Baud, Bryann Bromley, Sébastien Lebon, Estelle Dubruc, Yvan Vial, Laurent Guibaud

Research output: Contribution to journalArticlepeer-review

Abstract

Objectives: To characterize a suggestive prenatal imaging pattern of Aicardi syndrome using ultrasound and MR imaging. Methods: Based on a retrospective international series of Aicardi syndrome cases from tertiary centers encountered over a 20-year period (2000–2020), we investigated the frequencies of the imaging features in order to characterize an imaging pattern highly suggestive of the diagnosis. Results: Among 20 cases included, arachnoid cysts associated with a distortion of the interhemispheric fissure were constantly encountered associated with complete or partial agenesis of the corpus callosum (19/20, 95%). This triad in the presence of other CNS disorganization, such as polymicrogyria (16/17, 94%), heterotopias (15/17, 88%), ventriculomegaly (14/20, 70%), cerebral asymmetry [14/20, 70%]) and less frequently extra-CNS anomaly (ocular anomalies [7/11, 64%], costal/vertebral segmentation defect [4/20, 20%]) represent a highly suggestive pattern of Aicardi syndrome in a female patient. Conclusion: Despite absence of genetic test to confirm prenatal diagnosis of AS, this combination of CNS and extra-CNS fetal findings allows delineation of a characteristic imaging pattern of AS, especially when facing dysgenesis of the corpus callosum.

Original languageEnglish
Pages (from-to)484-494
Number of pages11
JournalPrenatal Diagnosis
Volume42
Issue number4
DOIs
StatePublished - Apr 2022

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