%0 Journal Article
%T Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.
%A Pomar L
%A Ochoa J
%A Cabet S
%A Huisman TAGM
%A Paladini D
%A Klaritsch P
%A Galmiche A
%A Prayer F
%A Gacio S
%A Haratz K
%A Malinger G
%A Van Mieghem T
%A Baud D
%A Bromley B
%A Lebon S
%A Dubruc E
%A Vial Y
%A Guibaud L
%J Prenat Diagn
%V 42
%N 4
%D 04 2022
%M 34984691
%F 3.242
%R 10.1002/pd.6085
%X To characterize a suggestive prenatal imaging pattern of Aicardi syndrome using ultrasound and MR imaging.<BR>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.<BR>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.<BR>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.