Treatment of cystic fibrosis following infant screening

Newborn screening should provide opportunities to improve clinical outcomes and prevent complications. Care in a cystic fibrosis (CF) specialist center and early referral to a specialist CF center are associated with improved lung function [1–3]. Guidelines have been published on the early management of infants diagnosed through newborn screening [4,5]. There is good evidence from randomized clinical trial data of nutritional benefits from newborn screening [6–8]. The Wisconsin randomized controlled trial of newborn screening reported that infants diagnosed with CF through newborn screening had a more rapid normalization of weight, length and head circumference compared with infants diagnosed clinically. Long-term evaluation to the age of 16 years of children in this study, showed improved long-term weight and height growth in children diagnosed through newborn screening compared with children diagnosed with CF clinically [8]. In addition, infants diagnosed clinically with pancreatic insufficiency and vitamin E deficiency at the time of diagnosis have been reported to have lower cognitive scores in later childhood (aged 7.3–16.9 years) and smaller head circumference compared with children diagnosed by newborn screening with or without vitamin E deficiency at diagnosis [9]. The evidence therefore suggests that both long-term cognitive and growth outcomes may be optimized through newborn screening and early intervention. Theoretically there should be opportunities for improvement in long-term pulmonary outcomes from newborn screening. Analyses from national registry studies are supportive of improved pulmonary outcomes following newborn screening [10]. However, the data from the only randomized controlled trial were less compelling. The Wisconsin newborn screening randomized controlled trial found no differences in pulmonary outcomes measured using serial respiratory cultures, pulmonary function with spirometry and chest radiography with quantitative scoring [11]. The authors suggested that over time there may be many confounding issues including early airway infection with Pseudomonas aeruginosa or other pathogens. The major concern however is that there are also no recognized specific treatments for prevention of lung disease in infants and preschool children and a lack of clinical trial data in this important group remains a huge gap in clinical m anagement that urgently needs to be addressed.