Esophageal atresia and tracheoesophageal fistula in children of women exposed to diethylstilbestrol in utero.

Objective: This study was undertaken to study the possible risk to mothers exposed in utero to diethylstilbestrol for offspring with esophageal atresia/tracheoesophageal fistula.
Study Design: Information on the mothers' in utero exposure to diethylstilbestrol was obtained from 3 sources: questionnaires completed by members of the parents' association of children with esophageal atresia/tracheoesophageal fistula; records of patients with esophageal atresia/tracheoesophageal fistula from a hospital database; and files from the Northern Netherlands EUROCAT birth defects registry.
Results: Three of 124 (2.4%) mothers from the parents' association and 6 of 192 (3.1%) mothers from the hospital cases reported in utero exposure to diethylstilbestrol. For 8848 children registered by EUROCAT, 33 (0.37%) mothers reported in utero exposure to diethylstilbestrol. Of 117 infants with esophageal atresia/tracheoesophageal fistula, 4 (3.4%) had a mother with in utero exposure to diethylstilbestrol; this association was statistically significant (P = .001).
Conclusion: We report a possible transgenerational effect of diethylstilbestrol exposure in the cause of some cases of esophageal atresia/tracheoesophageal fistula.