Maternal Risk Factors and Perinatal Characteristics for Hirschsprung Disease

Hirschsprung disease (HSCR) is a congenital defect of the enteric nervous system characterized by a lack of ganglion cells in the distal hindgut. The aim of this study was to assess the birth prevalence, perinatal characteristics, and maternal risk factors in HSCR patients in Sweden.

This was a nationwide, population-based, case-control study of all children born in Sweden between 1982 and 2012 and registered in the Swedish Medical Birth Register. Cases were identified in the Swedish National Patient Register and data on potential maternal risk factors and patient characteristics were collected from the Swedish National Patient Register and the Swedish Medical Birth Register. Five age- and sex-matched controls were randomly selected for each case. The association between studied risk factors and HSCR was analyzed using conditional logistic regression to calculate the odds ratio (OR) and 95% confidence interval (CI).

The study population comprised 600 HSCR cases and 3000 controls with a male-to-female ratio of 3.7:1. The birth prevalence of HSCR was 1.91/10 000. Maternal obesity was associated with an increased risk for the child to have HSCR (OR 1.74; CI 1.25-2.44). Children with HSCR were born at an earlier gestational age (OR 1.60; CI 1.18-2.17) than control children. Associated malformations were identified in 34.5% of the cases.

This study showed that the Swedish birth prevalence of HSCR was 1.91/10 000. Children with HSCR disease were born at a lower gestational age than controls. Maternal obesity may increase the risk for the child to have HSCR.