title: Is there an association of Down syndrome and omphalocele?
abstract: The possible association of Down syndrome (DS) with omphalocele is controversial. We reviewed the 2,979 live births and stillbirths with DS born from 1983 to 1993 in the catchment area of the California Birth Defects Monitoring Program (CBDMP). We observed one infant with both defects, a number that did not differ significantly from what was expected (P < 0.40). We also reviewed the pathological reports of one of us (L.H.H.) from a series of 36 DS fetuses and neonatal deaths; none had an omphalocele. We then reviewed the literature for epidemiological studies of DS and for epidemiological, surgical, prenatal, and familial studies of omphalocele. Possible biases inherent in each type of study were evaluated. The majority of epidemiological studies showed no association of DS with omphalocele. In surgical series, the occasional infant with both defects was more likely to undergo surgery than infants with omphalocele and trisomies 13 and 18 or other severe birth defects. Inclusion of both omphalocele and umbilical hernia in the same ICD-9 code may explain some of the correlations with DS noticed in a few epidemiological studies. In conclusion, our data suggest that trisomy 21 does not predispose the fetus to an increased risk for an omphalocele.
authors.affiliation: California Birth Defects Monitoring Program, Emeryville 94608-1811, USA.
authors.forename: C P
authors.initials: CP
authors.lastname: Torfs
authors.forename: L H
authors.initials: LH
authors.lastname: Honoré
authors.forename: C J
authors.initials: CJ
authors.lastname: Curry
mesh_terms: D004314:Down Syndrome / Q000150:complications* / Q000453:epidemiology* / Q000473:pathology; D006554:Hernia, Umbilical / Q000150:complications* / Q000453:epidemiology*; D006801:Humans; D007231:Infant, Newborn