Neurodevelopmental outcome following prenatal diagnosis of an isolated anomaly of the corpus callosum

Abstract

Objectives: To assess the ability of prenatal ultrasound and magnetic resonance imaging (MRI) to diagnose isolated anomalies of the corpus callosum (ACC) and to further document the long-term prognosis following diagnosis.

Methods: This was a prospective case-control study carried out between 1999 and 2004. Diagnosis was made by a combination of ultrasound and MRI. All infants were examined by a neuropediatrician and parents consented to answer questionnaires (CDI, Ireton's Child Developmental Inventory) in 22 cases, which were matched with 44 control infants. The CDI was used to assess neurodevelopmental outcome in cases and controls. Mean DQ-CDI (development quotient calculated from CDI) values and frequencies of abnormal results were compared between groups, and a meta-analysis of previous studies was performed.

Results: The diagnosis of ACC was made prenatally and confirmed postnatally in 175 cases. The diagnosis was thought to be isolated ACC in 88/175 (50%) cases. Sixty of these 88 cases (68%) underwent termination of pregnancy and one died in utero. Twenty-seven were liveborn, of which 26 were followed up for a median of 50 (range, 30-74) months. Additional anomalies were diagnosed postnatally in four (15%) of these 26 neonates. The control group was significantly better (P < 0.05) compared with the cases diagnosed prenatally with isolated ACC with respect to gross motor, fine motor, language comprehension, numbers and general development, and it was marginally better for letters (P = 0.066). Seven of 26 (27%) (95% CI, 13-46%) infants with ACC over the age of 30 months had neurodevelopmental delay, compared with only one case with borderline developmental delay among the 44 controls (P = 0.006).

Conclusion: Prenatal diagnosis of ACC by a combination of ultrasound and MRI is reliable. However, the isolated nature of the anomaly could only be assessed in 85% of our cases. Since counseling is provided at the time of prenatal diagnosis, our population of isolated ACC included the cases that were missed prenatally as being ACC with associated anomalies. A meta-analysis of nine studies suggests that the development of children diagnosed prenatally with isolated ACC is normal in up to 70% (CI 95%, 56-83%) of cases. This means that the prospective risk of neurodevelopmental delay for a fetus with ACC described as isolated prenatally is 27%, compared with 15% for an infant whose diagnosis of isolated ACC is confirmed postnatally.