INCREASED FREQUENCY OF CYSTIC-FIBROSIS AMONG INFANTS WITH JEJUNOILEALATRESIA

There appears to be an increased frequency of cystic fibrosis (CF) amo ng infants with jejunoileal atresia (JIA), However, the figures vary w idely, and no population-based data exist. The purpose of this study w as to quantitate the magnitude of the association between JIA and CF i n Atlanta using population-based data from 1968 to 1995, Case subjects included all infants with isolated JIA born during 1968-1995 to mothe rs residing in the five-county metropolitan Atlanta area at the time o f birth. To ascertain cases, we reviewed records of the Metropolitan A tlanta Congenital Defects Program (MACDP), a population-based birth de fects registry. Caucasian JIA cases were cross-referenced with patient s in the CF registry at the Egleston Cystic Fibrosis Center at Emery U niversity to more completely ascertain the diagnosis of CF among JLA c ases. During 1968-1995, MACDP ascertained a total of 94 isolated JIA c ases, for a birth prevalence of 1.8/10,000 live births, Among the case s, 38 were Caucasian, 52 were African-American, and 4 were of Asian or Hispanic ethnicity. Four of the 38 Caucasian JIA cases (11%) also had CF. The expected number of JIA cases with CF is 0.019 based on the es timated population incidence of 1/2,000 for CF, The observed to expect ed (O/E) ratio of Caucasian JIA cases with CF is greater than 210 (P < 0.0001), Caucasian infants with JLA have more than 210 times the risk for CF compared with Caucasian infants in the general population. The results of this study have implications for the management of infants born with JLA and genetic counseling for families with affected infan ts. (C) 1998 Wiley-Liss, Inc.dagger.