Epidemiology and survival analysis of XXXX in an area of intense neonatal screening over 30 years.

@entity1 @entity1577
This population-based study was conducted in Veneto and Trentino (northwestern Italy, population 5 million). In this area, neonatal screening for @entity1577 started in 1973 and has been virtually universal since the early 1980s. During this study, the estimated incidence of @entity1577 in this region was 1/2,650 livebirths per year. The authors analyzed data on 593 @entity1 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 @entity1 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 @entity1 (<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 @entity1577 . They could not conclude that neonatal screening improves long-term survival if compared with diagnosis by symptoms in early infancy.
