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Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case‐series
Author(s) -
Pomar Léo,
Ochoa José,
Cabet Sara,
Huisman Thierry A. G. M.,
Paladini Dario,
Klaritsch Philipp,
Galmiche Aurore,
Prayer Florian,
Gacio Sebastián,
Haratz Karina,
Malinger Gustavo,
Van Mieghem Tim,
Baud David,
Bromley Bryann,
Lebon Sébastien,
Dubruc Estelle,
Vial Yvan,
Guibaud Laurent
Publication year - 2022
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.6085
Subject(s) - polymicrogyria , corpus callosum , dysgenesis , corpus callosum agenesis , prenatal diagnosis , medicine , ventriculomegaly , agenesis of the corpus callosum , neuroimaging , agenesis , pathology , magnetic resonance imaging , radiology , anatomy , fetus , pregnancy , biology , genetics , psychiatry
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.