Supported by a grant to Judith Rankin (2011–2012): Continued surveillance of congenital anomalies in the Northern region, Healthcare Quality Improvement Partnership, 1 April 2011.
Hirschsprung's disease in the North of England: Prevalence, associated anomalies, and survival†
Article first published online: 18 APR 2012
Copyright © 2012 Wiley Periodicals, Inc.
Birth Defects Research Part A: Clinical and Molecular Teratology
Volume 94, Issue 6, pages 477–480, June 2012
How to Cite
Best, K. E., Glinianaia, S. V., Bythell, M. and Rankin, J. (2012), Hirschsprung's disease in the North of England: Prevalence, associated anomalies, and survival. Birth Defects Research Part A: Clinical and Molecular Teratology, 94: 477–480. doi: 10.1002/bdra.23016
- Issue published online: 11 JUN 2012
- Article first published online: 18 APR 2012
- Manuscript Accepted: 11 MAR 2012
- Manuscript Revised: 8 MAR 2012
- Manuscript Received: 13 FEB 2012
- congenital anomaly;
Hirschsprung's disease is the commonest congenital gut motility disorder, characterized by the absence of the enteric ganglion cells along the distal gut, which causes intestinal obstruction. Few publications report its epidemiology and temporal trends.
Cases of Hirschsprung's disease delivered during 1990 to 2008 in the North of England reported to the Northern Congenital Abnormality Survey (NorCAS) formed this population-based case series.
Of 612,916 live births, 105 cases were reported to NorCAS. After excluding one diabetic and four multiple pregnancies, the live birth prevalence was 1.63 (95% confidence interval [CI], 1.33–1.98) per 10,000 live births. There was a significant temporal increase in the prevalence of Hirschsprung's disease (p = 0.020), from 1.26 (95% CI, 0.80–1.89) in 1990 to 1994 to 2.29 (95% CI, 1.53–3.29) in 2005 to 2008. The ratio of male to female cases was 2:1. Ten (10.0%) cases occurred with Down syndrome, one with Smith-Lemli-Opitz Syndrome, and six (6.0%) with associated structural anomalies. The remaining 83 (83.0%) cases were isolated. All cases were live born, but nine (9.0%) died in the first year of life. Hirschsprung's disease was not prenatally suspected in any case. Half the cases were diagnosed within 5 days postpartum, but time of diagnosis ranged from birth to 5 years of age.
This study confirmed a male predominance and an association with Down syndrome, but also founda temporal increase in Hirschsprung's disease prevalence. No cases were suspected prenatally, but half were diagnosed within 5 days of life. Birth Defects Research (Part A), 2012. © 2012 Wiley Periodicals, Inc.