Epidemiology and survival analysis of cystic fibrosis in an area of intense neonatal screening over 30 years

Am J Epidemiol. 2002 Sep 1;156(5):397-401. doi: 10.1093/aje/kwf064.


This population-based study was conducted in Veneto and Trentino (northwestern Italy, population 5 million). In this area, neonatal screening for cystic fibrosis started in 1973 and has been virtually universal since the early 1980s. During this study, the estimated incidence of cystic fibrosis in this region was 1/2,650 livebirths per year. The authors analyzed data on 593 patients born in 1938-2000 and living in the region who were followed by a single referral center. Median time from birth to confirmation of diagnosis after screening was 32 days (range, 0-1,531). For patients whose disease was recognized after symptoms occurred, median age at diagnosis was always less than 1 year. Median survival age was 37.7 years. Long-term survival (to age 20-30 years) was not significantly influenced by mode of diagnosis (screened or unscreened), sex, or age at diagnosis for unscreened patients (<1, 1-5, >5 years). Current survival analysis of three consecutive decades showed that improving survival tended to vanish in the last years of the study. The authors concluded that a regional neonatal screening program allows very early recognition of cystic fibrosis. They could not conclude that neonatal screening improves long-term survival if compared with diagnosis by symptoms in early infancy.

MeSH terms

  • Age Distribution
  • Cystic Fibrosis / epidemiology*
  • Cystic Fibrosis / mortality*
  • Female
  • Humans
  • Incidence
  • Infant, Newborn
  • Italy / epidemiology
  • Male
  • Neonatal Screening*
  • Population Surveillance / methods*
  • Probability
  • Sex Distribution
  • Survival Analysis