Fetal cephaloceles – prenatal diagnosis and course of pregnancy in 67 consecutive cases

Objective: To the characteristics of all cases with antenatally established diagnosis of encephalocele in two tertiary referral centers.

Methods: We retrospectively reviewed 67 cases diagnosed with cephaloceles and tabulated sonographic findings and autopsy recordings as well as medical charts of all survivors in terms of clinical outcome.

Results: The case notes of 67 fetuses were available for final analysis. Gestational age (GA) at diagnosis ranged from 10.4 to 38.1 weeks. Of our cohort 52/67 cases (78%) had occipital protrusions, 9 (14%) were found to have frontal lesions and another three had parietal cephaloceles. A total of 53 pregnancies were terminated or resulted in intrauterine fetal demise (79%). In 19 cases the cephalocele was part of underlying syndromic disorders (e.g. Meckel-Gruber syndrome). Fourteen pregnancies were continued until term, out of which all affected individuals were live-born. Neurosurgical intervention was prompted within the first 7 months postnatally.

Conclusion: In general the outcome of fetuses with cephaloceles is rather poor as four out of five pregnancies were terminated. Postnatal outcome of all survivors in our cohort was rather determined by localization of the cele and more important by the presence and severity of concomitant malformations than the extent of the lesion.