Neonatal screening for cystic fibrosis does not affect time to first infection with Pseudomonas aeruginosa.

OBJECTIVE: Newborn screening for cystic fibrosis was introduced in the Piedmont region of Italy in the year 2000. Our aim with this study was to estimate the effect of newborn screening on the risk of Pseudomonas aeruginosa infection at the regional cystic fibrosis pediatric reference center.

METHODS: The time to first infection with P aeruginosa within the historical cohort of cystic fibrosis children diagnosed between January 1, 1997, and June 30, 2004, was investigated, comparing survival functions and the adjusted hazard ratio of children diagnosed before and after newborn screening introduction. The role of pancreatic insufficiency was also concurrently investigated.

RESULTS: Overall, 71 children diagnosed with cystic fibrosis were identified, 27 cases were clinically diagnosed before newborn screening introduction, and 5 of them presented with meconium ileus, whereas 44 were identified by newborn screening. Among them 35 needed pancreatic enzyme supplementation, whereas 34 children were infected with P aeruginosa. Both the nonparametric and semiparametric survival estimates failed to show any significant increase in the risk of P aeruginosa infection among screened children compared with historical controls. However, the median time from cystic fibrosis diagnosis to P aeruginosa infection among screened children was significantly shorter (183 vs 448 days). Children with impaired pancreatic function were at high risk of P aeruginosa infection.

CONCLUSIONS: The results of the study suggest that health authorities should regard newborn screening for cystic fibrosis as an opportunity to improve care and outcomes among affected children and shift the focus from whether it is appropriate to screen to how to optimize biomedical and psychosocial outcomes of screening.