AGENESIS OF THE CORPUS CALLOSUM – ANTENATAL DIAGNOSIS AND MANAGEMENT Ceri CeriEvans EvansMBBCh MBBChand andR.Bryan BryanBeattie BeattieMD MDFRCOG FRCOG Department of Fetal Medicine, University Hospital of Wales, Cardiff University INTRODUCTION Agenesis of the corpus callosum (ACC) is associated with a wide range of clinical outcomes and a variety of coexisting disorders. ACC can range from partial under-development to complete absence of the corpus callosum. Cases can be described as complex, when associated with other abnormalities, or isolated. This audit aimed to (1) evaluate the management and follow-up of women with prenatally diagnosed fetuses with ACC; and (2) to better-prepare clinicians in the counselling of parents with antenatal diagnosis of ACC. METHODS Retrospective audit at University Hospital of Wales Fetal Medicine Department (2002-2011) of ultrasound scandiagnosed agenesis of corpus callosum at routine anomaly screening. Antenatal management, counselling and pregnancy outcomes were reviewed. Statistical analysis: Chi-squared and Fisher’s exact tests were carried out using PASW (SPSS) Statistics version 18.0.3. A p value of <0.05 was defined as being statistically significant. DEMOGRAPHICS 67 women were included. Age range: 17-48. Fetuses: 59% female, 41% male. 39% were cases with a partial agenesis. 55% were of complete agenesis. Fetuses were also antenatally categorised into isolated cases of ACC, and ACC associated to other anomalies (complex): 59.7% were complex, 37.3% were isolated cases. No significant association between cases being isolated/ complicated and being partial/complete ACC (p>0.05). COUNSELLING Complete (n=9) Partial (n=9) PAEDIATRIC OUTCOMES Outcomes were varied (Figure 1). There was a significant association between associated features (complex cases) and long-term developmental delay or early death of the child (p<0.01, see Table 2). 62.1% received counselling from a paediatric neurologist and a further 6.1% were counselled by other specialist paediatricians (paediatric cardiology/neonatology). 31.8% appeared from the notes to receive no specialist counselling other than that from the fetal medicine consultant. There was no association between completeness of agenesis and long-term developmental delay or early death of the child (p>0.05, see Table 3). IMAGING •  MRI was performed in 47%. •  In 67.7% the MRI scan was consistent with USS diagnosis. •  In 25.8% of cases the result MRI came to a different diagnosis. •  Positive predictive value of USS in ACC diagnosis compared to MRI was 81.5%. Live births TOP Stillbirth Despite this, as seen above, cases of complete agenesis were more likely to result in a termination of pregnancy (Table 1). 7 6 59% 78% 42% 76% 43% 39% 22% 55% 24% 54% 1% 0% 3% 0% 3% 5 2 It is recommended that all parents with a prenatal diagnosis of ACC receive counselling with a specialist paediatrician. In this audit, 68.2% of parents received counselling with a specialist paediatrician. Some parents refused counselling, but this was not always documented. There were no differences in outcomes between cases of complete ACC and partial ACC, but termination of pregnancy was more common in complete cases. Normal development Developmental Developmental delay delay, died 3 years Died one year Died one month Died one week Died one day Figure 1: Developmental outcome of children born with ACC. X axis = outcome. Y axis = frequency Table 1: There was a significant association between: 1.  The type of agenesis (partial or 2. Associated features and complete) and the decision to the decision to terminate terminate the pregnancy the pregnancy (p<0.05). (p<0.05). Table 3: Outcome of children born with complete compared to partial ACC. ACC associated with other congenital abnormalities (complex ACC) was significantly more likely to result in developmental delay. Termination of pregnancy was more common in complex ACC. 3 0 3 2 4 MRI was better than USS at diagnosing ACC and identifying associated features. MRI scan was only performed in 47% of cases. 1 All cases Partial Complete Isolated Complex 2 4 3 DISCUSSION 4 PREGNANCY OUTCOMES Normal development Developmental delay Childhood death Normal development Developmental delay Childhood death Complex (n=11) 0 4 7 Isolated (n=7) 5 2 0 Table 2: Outcome of children born with isolated ACC compared with ACC with associated abnormalities The data of this audit should help with counselling of future parents, although outcome is varied among cases. CONCLUSIONS The extent of callosal agenesis (complete/partial) is unlikely to have a major impact on outcomes. Outcomes are largely dependent on associated anomalies, and it is suggested that antenatal ACC could be viewed as a marker of further abnormalities, and that parents should be offered evidence-based counselling and additional detailed anomaly scans.