AI Summary & Key Takeaways
AI InsightComprehensive prenatal evaluation that integrates neurosonography, fetal MRI, and genetic testing is essential for accurate characterization and prognostic counseling in fetal corpus callosum anomalies.
📌 3 Key Takeaways
Abstract
Aims: To evaluate prenatal imaging findings, associated structural abnormalities, genetic testing results, and neonatal outcomes in fetuses with corpus callosum anomalies, and to compare corpus callosum dysplasia with agenesis. Methods: This retrospective cross-sectional study included 42 pregnancies complicated by fetal corpus callosum anomalies: 24 cases of corpus callosum dysplasia and 18 cases of corpus callosum agenesis. Prenatal ultrasonographic findings, fetal magnetic resonance imaging (MRI) findings, invasive prenatal genetic testing results, associated structural abnormalities, and neonatal outcomes were evaluated retrospectively. Results: Associated structural abnormalities on prenatal ultrasonography were observed in 83.3% of the dysplasia group and in all fetuses in the agenesis group (p=0.122). Ventriculomegaly-related abnormalities were the most common associated findings in both groups. Colpocephaly, interhemispheric cysts, facial anomalies, and multisystem structural abnormalities were more prominent in the agenesis group. Fetal MRI findings mainly included cavum septi pellucidi abnormalities, ventriculomegaly, and colpocephaly. Prenatal genetic evaluation identified abnormalities involving genes such as L1CAM, FGFR1, and KIF7. The agenesis group had lower birth weights and higher neonatal intensive care unit admission rates compared with the dysplasia group. Conclusion: Fetuses with corpus callosum agenesis showed a tendency toward a more severe phenotypic spectrum, with more associated structural abnormalities and less favorable neonatal characteristics compared with fetuses with corpus callosum dysplasia. Comprehensive prenatal evaluation that integrates neurosonography, fetal MRI, and genetic testing is essential for accurate characterization and prognostic counseling in fetal corpus callosum anomalies.