We report Down syndrome (DS)-associated congenital gastrointestinal (GI) defects identified during a 15 year, population-based study of the etiology and phenotypic consequences of trisomy 21. Between 1989 and 2004, six sites collected DNA, clinical and epidemiological information on live-born infants with standard trisomy 21 and their parents. We used chi-squared test and logistic regression to explore relationships between congenital GI defects and infant sex, race, maternal age, origin of the extra chromosome 21, and presence of a congenital heart defect. Congenital GI defects were present in 6.7% of 1892 eligible infants in this large, ethnically diverse, population-based study of DS. Defects included esophageal atresia/tracheoesophageal fistula (0.4%), pyloric stenosis (0.3%), duodenal stenosis/atresia (3.9%), Hirschsprung disease (0.8%), and anal stenosis/atresia (1.0%). We found no statistically significant associations between these defects and the factors examined. Although not significant, esophageal atresia was observed more often in infants of younger mothers and Hispanics, Hirschsprung disease was more frequent in males and in infants of younger mothers and blacks, and anal stenosis/atresia was found more often among females and Asians.

Self-reports of disease from relatives are generally believed to be more detailed than those received from a family informant, although differential participation may exist among the relatives who provide information. To investigate the potential for differential participation, we requested permission to contact relatives of mothers (informants) who had provided family history information for a population-based case-control study of orofacial clefts. Birth defect and cancer self-reports were received from 345 (65.6%) case and 380 (68.8%) control relatives. Participants and nonparticipants differed little by type (maternal or paternal) or degree of relationship. Informants, however, were more likely to permit contact with relatives who were maternal, first-degree and female. Relatives appeared willing to provide self-reports, although the potential for differential selection introduced by informants should be considered.

The authors regret that the affiliation of Alessandro Arcovito was mistakenly numbered as " c,g " on this publication.