Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis

Antenatal counseling in cases of agenesis of the corpus callosum (ACC) is challenging.

To ascertain the outcome in fetuses with isolated complete ACC and partial ACC.

Medline, Embase, CINAHL, and Cochrane databases.

Studies reporting a prenatal diagnosis of ACC. The outcomes observed were: chromosomal abnormalities at standard karyotype and chromosomal microarray (CMA) analysis, additional anomalies detected only at prenatal MRI and at postnatal imaging or clinical evaluation, concordance between prenatal and postnatal diagnosis and neurodevelopmental outcome.

Meta-analyses of proportions were used to combine data.

Twenty-seven studies were included. In cACC, chromosomal anomalies occurred in 4.81% (95% confidence interval [CI], 2.2-8.4) of the cases. Gross and fine motor control were abnormal in 4.40% (95% CI, 0.6-11.3) and 10.98% (95% CI, 4.1-20.6) of the cases, respectively, whereas 6.80% (95% CI, 1.7-14.9) presented with epilepsy. Abnormal cognitive status occurred in 15.16% (95% CI, 6.9-25.9) of cases. In partial ACC, the rate of chromosomal anomalies was 7.45% (95% CI, 2.0-15.9). Fine motor control was affected in 11.74% (95% CI, 0.9-32.1) of the cases, and 16.11% (95% CI, 2.5-38.2) presented with epilepsy. Cognitive status was affected in 17.25% (95% CI, 3.0-39.7) of cases.

Different neurodevelopmental tools and time of follow-up of the included studies.

Children wih a prenatal diagnosis of isolated ACC show several degrees of impairment in motor control, coordination, language, and cognitive status. However, in view of the large heterogeneity in outcomes measures, time at follow-up, and neurodevelopmental tools used, large prospective studies are needed to ascertain the actual occurrence of neuropsychological morbidity of children with isolated ACC.