Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Pomar, L; Ochoa, J; Cabet, S; Huisman, TAGM; Paladini, D; Klaritsch, P; Galmiche, A; Prayer, F; Gacio, S; Haratz, K; Malinger, G; Van, Mieghem, T; Baud, D; Bromley, B; Lebon, S; Dubruc, E; Vial, Y; Guibaud, L.
Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.
Prenat Diagn. 2022; 42(4):484-494
Doi: 10.1002/pd.6085
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PubMed
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- Co-Autor*innen der Med Uni Graz
- Klaritsch Philipp
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Agenesis of Corpus Callosum - diagnostic imaging
- Aicardi Syndrome - diagnostic imaging
- Corpus Callosum - diagnostic imaging
- Female - administration & dosage
- Humans - administration & dosage
- Magnetic Resonance Imaging - methods
- Nervous System Malformations - diagnostic imaging
- Pregnancy - administration & dosage
- Prenatal Diagnosis - methods
- Retrospective Studies - administration & dosage
- Ultrasonography, Prenatal - methods