Register based study of bladder exstrophy-epispadias complex: prevalence, associated anomalies, prenatal diagnosis and survival.

PURPOSE: We describe the prevalence, associated anomalies, prenatal diagnosis and survival of patients with bladder exstrophy-epispadias complex.

MATERIALS AND

METHODS

Data were extracted from the Northern Congenital Abnormality Survey for patients delivered during 1985 to 2008. This survey collects data on congenital anomalies in fetuses, stillbirths and live-born infants of mothers residing in Northern England (Northumberland, North Cumbria, Tyne and Wear Durham, Darlington and Teesside).

RESULTS

A total of 43 cases were identified from 824,368 registered births for a total prevalence of 5.22 per 100,000 (95% CI 3.77-7.03). Excluding 1 twin with cloacal exstrophy, 42 cases occurred in singleton pregnancies. A total of 29 cases (69%) were isolated and 13 (31%) were associated with other anomalies, of which 11 (26%) were other structural and 2 (5%) were chromosomal. Male-to-female ratio was 2.2:1 for all singleton cases and 1.4:1 for isolated cases. Total prevalence of bladder exstrophy-epispadias complex singleton cases was 5.10 per 100,000 registered births (95% CI 3.67-6.89) and overall live birth prevalence was 4.63 per 100,000 live births (95% CI 3.28-6.36). Total prevalence of isolated cases of bladder exstrophy-epispadias complex was 3.52 per 100,000 births (95% CI 2.36-5.05) and live birth prevalence was 3.29 per 100,000 (95% CI 2.17-4.79). Accuracy of prenatal diagnosis was low, with 4 cases (10%) being detected prenatally by routine ultrasound (bladder exstrophy in 3, cloacal exstrophy in 1). Overall survival of all infants at 1 year was 95%.

CONCLUSIONS

This population based study demonstrates a prevalence rate similar to other studies, a low prenatal diagnosis rate and high survival.