AN INTERNATIONAL COLLABORATIVE STUDY OF THE EPIDEMIOLOGY OF ESOPHAGEAL ATRESIA OR STENOSIS

Epidemiologic data were analyzed for a total of 2,693 infants with eso phageal atresia registered in nine congenital malformation registries around the world. The average recorded prevalence at birth was 2.6 per 10,000 births, with a significant variability among programs-and some times within a program-and a maximum prevalence of above 3 per 10,000 births. Clusters of infants with esophageal atresia were observed but may be random. An increasing rate was seen during the period 1965 to 1 975 (Norway, South America, Sweden). The type of esophageal atresia wa s specified in only 439 cases, but no major differences were seen in t he epidemiologic characteristics of infants with the most common type (distal fistula) and infants with other types. There was an excess of low birth weight and preterm birth, and infants with esophageal atresi a had a birth weight 500 to 1,000 g less than normal infants in each g estational week. There was an excess of twins, apparently mainly or ex clusively due to monozygotic twinning, but in only two pairs did both twins have esophageal atresia. There was no effect seen of maternal ag e, but low parity, irrespective of maternal age, was associated with a n increased risk for esophageal atresia. Infant survival varied among programs and depended heavily on associated malformations. Among 1,107 sibs born before the proband and 385 born after the proband, only 25 (1.7%) had a serious malformation; three had esophageal atresia. In 57 .3% of the infants with esophageal atresia, no other malformations wer e present, in 36.4% other major malformations were recorded, and in 6. 3% there were chromosomal anomalies. The malformations present associa ted with esophageal atresia were analyzed: a large proportion entered the constellation sometimes called ''caudal mesoderm spectrum of malfo rmations'': VATER, Potter, and caudal regression sequences.