Background: Esophageal atresia (EA) is a moderately frequent birth defect that often occurs with tracheo-esophageal fistula (TEF). Etiologic studies for EA+/-TEF have produced inconsistent results.
Methods: This study used data from the National Birth Defects Prevention Study (NBDPS) to examine the association between maternal periconceptional exposure to cigarette smoking and alcohol and EA+/-TEF. Cases of EA+/-TEF and unaffected controls with an estimated date of delivery from October 1997 through December 2003 were identified, and telephone interview reports for smoking and alcohol exposure were obtained from birth mothers of 334 cases and 4,967 controls. Odds ratios (OR)s and 95% confidence intervals (CI)s, adjusted for several covariates, were calculated to assess associations.
Results: ORs were near unity for all EA+/-TEF cases combined and any periconceptional exposure to cigarette smoking (OR = 1.1; CI = 0.8,1.6) or alcohol (OR = 1.2; CI = 0.8,1.8). For cigarette smoking, some elevated ORs were found but varied by type of smoking exposure. No consistent patterns were identified for number of cigarettes smoked per day. For alcohol, ORs were weak to moderately elevated with increasing number of drinks consumed and for binge drinkers compared to non-binge drinkers. ORs were further elevated among mothers who reported active+passive exposure to cigarette smoking and alcohol (OR = 2.5; CI = 1.1,5.6). For both exposures, ORs were higher for cases with additional major defects compared to isolated cases.
Conclusions: These results, based on one of the largest published samples of EA+/-TEF cases, suggest a role for these exposures in the etiology of EA+/-TEF, although further study is needed to replicate the observed associations.