ISSN: 1859 - 2872
A fetus with complex brain abnormalities diagnosed with opitz-kaveggia syndrome caused by A MED12 pathogenic variant: The first case report in Vietnam
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Abstract
Objective: To describe the prenatal phenotypic features and the value of genetic testing in detecting Opitz-Kaveggia syndrome, thereby contributing to prognostic assessment and genetic counseling. Subject and method: We report a fetus at 22–26 weeks of gestation presenting with central nervous system abnormalities on ultrasound. Detailed fetal structural assessment was performed using ultrasound and magnetic resonance imaging (MRI). Whole-exome sequencing (ES) was conducted on cultured amniotic fluid to investigate the underlying genetic etiology. Result: Ultrasound and MRI revealed multiple brain abnormalities, including bilateral ventriculomegaly, corpus callosum hypoplasia, absence of the septum pellucidum, poorly developed Sylvian fissures, and cerebellar hypoplasia. ES identified a hemizygous pathogenic variant in the MED12 gene (c.2881C>T), confirming the diagnosis of Opitz-Kaveggia syndrome. Conclusion: This case highlights the important role of integrating detailed fetal imaging with molecular genetic analysis in the prenatal diagnosis of rare syndromes such as Opitz-Kaveggia. The findings expand the fetal phenotypic spectrum and provide valuable information for prognosis, pregnancy management, and genetic counseling regarding recurrence risk.
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References
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