Presented at the Neonatal Society 2015 Spring Meeting.
Walker A1, Rodrigues D2, Williams D1,3, Marton T1, Tonks A4, Ewer AK1,5
1 Birmingham Women’s NHS Foundation Trust, UK
2 Birmingham Children’s Hospital, UK
3 West Midlands Regional Genetics Service, UK
4 West Midlands Perinatal Institute, UK
5 University of Birmingham, UK
Background: Encephalocele is a rare congenital abnormality of the central nervous system (CNS) with protrusion of the meninges and brain through a defect in the skull. There is a lack of information about the outcome of these pregnancies (1). The aim of this study was to collate outcome data on all cases of encephalocele so that antenatal counselling may be more informative.
Methods: Cases of antenatally diagnosed encephalocele between 01/01/00 and 31/12/09, were identified from fetal medicine, regional anomaly, genetics and pathology databases. Notes were reviewed to collate pregnancy and neurodevelopmental outcomes. Ethical approval was obtained.
Results: 53 cases were identified. 40 posterior, 4 anterior and 1 interparietal. In 8, site was not classified. 43% had other CNS abnormalities; (ventriculomegaly – 9, microcephaly – 5 , spinal bifida – 5, holoprosencephaly – 2 other CNS abnormalities – 2). Non-CNS abnormalities occurred in 18 cases (15 renal, 3 cardiac). 40 pregnancies were terminated, 6 resulted in live births and 7 were lost to follow up. 58% of cases had chromosomal testing – 4 were abnormal. Post-mortem was performed in 53% of cases identifying 7 additional CNS defects and 11 non-CNS abnormalities.14 cases had a diagnosis of Meckel Gruber syndrome (MG). Of the live births, 3 died within 2 months of age and 3 were still alive. Two long-term survivors have learning difficulties, the other had reported normal development at 21 months.
Conclusion: This is the largest cohort of antenatally diagnosed encephalocele. As with other reported data we have a high termination rate. With only 3 long-term survivors the outcome remains guarded for this condition.
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1. Ultrasound Obstet Gynecol. 2014 Sep 5. doi: 10.1002/uog.14661. [Epub ahead of print] Fetal Cephalocele: First-Trimester Sonographic Spectrum In A Review Of 35 Cases.Sepulveda W1, Wong AE, Andreeva E, Odegova N, Martinez-Ten P, Meagher S.