Evaluation of diagnosis and follow-up in screened children with cystic fibrosis in Normandy.

The neonatal screening programme in Normandy (France) allowed the formation of a homogenous cystic fibrosis (CF) cohort of 750 children diagnosed betw een 1980 and 1997. At the time of this retrospective study, 11 were decease d, out of which nine had meconium ileus (eight deaths after surgery, one at 5 years of age). Sixty children born between 1980 and 1993 in the Basse-No rmandie region were followed up during a mean 80 months following similar p rotocols. The mean age at diagnosis was 47 days (SD = 27 d) for infants wit hout meconium ileus. The occurrence of Pseudomonas aeruginosa (P. aeruginos a) infection and chronic colonization was studied using a monovariate follo wed by a multivariate analysis including the following variables: sex; meco nium ileus; anthropometric data at birth and at diagnosis; pancreatic insuf ficiency; radiological data (Brasfield score); microbiology data at diagnos is; and genetic data. P. aeruginosa infection appeared earlier in children with pancreatic insufficiency (OR=2.2; p<0.05) or with radiological abnorma lities (Brasfield score <21) at diagnosis (OR=3.9; p<0.05). Meconium ileus (OR=5.3; p<0.01), pancreatic insufficiency (OR=3.8; p<0.01) and Brasfield s core <21 at diagnosis (OR=5.6; p<0.001) were prognosis factors for early ch ronic P. aeruginosa colonization. In CF children without meconium ileus, th e major risk factor found through multivariate analysis for earlier infecti on and for earlier chronic colonization by P. aeruginosa was a diagnosis de lay >40 days (respectively OR=4.6; p<0.001 and OR=10.4; p<0.005). These res ults must be compared with the lower Brasfield score at diagnosis in infant s diagnosed after 40 days of life (p<0.01). (C) 2001 Editions scientifiques et medicales Elsevier SAS.