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EP06.09: Prenatal diagnosis of Aicardi syndrome
Author(s) -
Barreto E.Q.,
Carvalho M.H.,
Hisaba W.
Publication year - 2019
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.21209
Subject(s) - agenesis of the corpus callosum , medicine , corpus callosum , prenatal diagnosis , ventriculomegaly , amniocentesis , corpus callosum agenesis , agenesis , fetus , genetic syndromes , pediatrics , pathology , anatomy , pregnancy , genetics , biology
A 20-week pregnant was referred for a routine scan which revealed a female fetus with complete agenesis of the corpus callosum and two interhemispheric cysts. An amniocentesis revealed a normal karyotype and normal SNP array. No other obvious structural defects were detected and in particular the eyes appeared normal. Follow-up scans revealed asymmetrical sulcation, delayed cortical development and unilateral ventriculomegaly, which were confirmed on MRI. These findings raised suspicion on the possibility of Aicardi syndrome. This was confirmed postnatally, due to typical findings on fundoscopy, seizures and confirmation of the prenatal brain findings.