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

Abstract

This study was undertaken to study the possible risk to mothers exposed in utero to diethylstilbestrol for offspring with esophageal atresia/tracheoesophageal fistula. 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. 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). We report a possible transgenerational effect of diethylstilbestrol exposure in the cause of some cases of esophageal atresia/tracheoesophageal fistula.