ArticlePrenatal diagnosis2022
Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.
Article in Prenatal diagnosis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Interhemispheric fissure distortion in fetal open spina bifida: an under-recognized prenatal ultrasound finding.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2026Article
- Article
- Second trimester soft markers: still worth to be mentioned?Archives of gynecology and obstetrics · 2025Review
- Fetal Teratomas: Advances in Diagnosis and Management.Journal of clinical medicine · 2024Review
- Prenatal dispositions and genetic analysis of monozygotic female twins with suprasellar cysts and hydrocephalus: A case report.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Article
- Article
- Modeling the enigma of complex disease etiology.Journal of translational medicine · 2023Article
- Prenatal Diagnosis of Congenital Lymphocytic Choriomeningitis Virus Infection: A Case Report.Viruses · 2022Article
- Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.Prenatal diagnosis · 2022Article
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18 authors.
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Abstract
objectivesTo characterize a suggestive prenatal imaging pattern of Aicardi syndrome using ultrasound and MR imaging.
methodsBased 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.
resultsAmong 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.
conclusionDespite 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.
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