Anomalies in Down syndrome individuals in a large population-based registry

Am J Med Genet. 1998 Jun 5;77(5):431-8.


In a population of close to 2.5 million infants born from 1983 to 1993 registered in the California Birth Defects Monitoring Program, we compared the prevalence of structural birth defects among 2,894 infants with Down syndrome (DS) with that of infants without DS. Among 61 defects uniformly ascertained in affected and unaffected infants, 45 were significantly more common in DS, with atrioventricular canal (risk ratio = 1,009), duodenal atresia (risk ratio = 265), and annular pancreas (risk ratio = 430) being the most common. Most defects of blastogenesis and most midline defects were either nonsignificantly associated or not observed in infants with DS. Theories on the pathogenesis of defects in trisomies must account for the lack of and for the presence of specific defects.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Congenital Abnormalities / genetics*
  • Down Syndrome / genetics*
  • Duodenal Obstruction / genetics
  • Endocardial Cushion Defects / genetics
  • Humans
  • Infant, Newborn
  • Intestinal Atresia / genetics
  • Pancreas / abnormalities
  • Pancreas / pathology
  • Population Surveillance
  • Registries*
  • Risk Factors