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

TLDR

Theories on trisomy pathogenesis must explain both the absence and presence of specific birth defects. The study compared structural birth‑defect prevalence in 2,894 Down‑syndrome infants to 2.5 million non‑DS infants in the California Birth Defects Monitoring Program (1983‑1993). Forty‑five of 61 uniformly ascertained defects were significantly more common in Down‑syndrome infants, notably atrioventricular canal (RR = 1.009), duodenal atresia (RR = 265), and annular pancreas (RR = 430), while most blastogenic and midline defects showed no significant association. Published in Am.

Abstract

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. Am. J. Med. Genet. 77:431–438, 1998. © 1998 Wiley-Liss, Inc.