Prenatal characteristics and clinical outcomes in 82 cases with agenesis of corpus callosum: single tertiary center experience.

BACKGROUND

Agenesis of the corpus callosum (ACC) is one of the most common structural brain malformations, with a highly variable prognosis. The aim of this study was to investigate all cases of ACC managed at our clinic and to provide a comprehensive assessment of its prenatal features, associated conditions, and postnatal outcomes.

MATERIALS AND

METHODS

We conducted a retrospective cohort study including all prenatally diagnosed cases of ACC in our maternal-fetal medicine unit between October 2020 and November 2024. Maternal characteristics, gestational age at diagnosis, associated anomalies, genetic testing results, and perinatal outcomes were recorded. Postnatal neurodevelopmental outcomes were assessed using the Denver II test, with a follow-up duration ranging from 6 to 40 months.

RESULTS

A total of 82 fetuses with ACC were collected. Of these, 59.8% (n = 49) had complete and 40.2% (n = 33) had partial ACC. 43.9% (n = 36) of cases were isolated and associated anomalies were detected in 56.1% (n = 46). 37.8% (n = 31) of cases opted for termination of pregnancy, whereas 19.5% (n = 16) resulted in postnatal death, and 42.7% (n = 35) survived. No significant difference was observed between partial and complete isolated ACC cases in terms of postnatal neurodevelopmental outcomes. Genetic abnormalities were identified in 31.1% (19/61) of patients who underwent genetic testing.

CONCLUSIONS

In cases of ACC, the most important prognostic factors are the presence of additional anomalies and genetic conditions. Genetic testing, including whole exome sequencing when karyotype and chromosomal microarray results are negative, is strongly recommended, even in isolated cases, to support counseling. In isolated ACC, neurodevelopmental outcomes were favorable in 85.2% (23/27) of patients, regardless of whether ACC was partial or complete.