Early Diagnosis of Cystic Fibrosis Through Neonatal Screening Prevents Severe Malnutrition and Improves Long-Term Growth

Abstract

Although the screened group had a higher proportion of patients with pancreatic insufficiency, their growth indices were significantly better than those of the control group during the 13-year follow-up evaluation and, therefore, this randomized clinical trial of early CF diagnosis must be interpreted as unequivocally positive. Our conclusions did not change when the height and weight data before 4 years of age for the controls detected by unblinding were included in the analysis. Also, comparison of growth outcomes after 4 years of age in all subjects showed persistence of the significant differences. Therefore, selection bias has been eliminated as a potential explanation. In addition, the results show that severe malnutrition persists after delayed diagnosis of CF and that catch-up may not be possible. We conclude that early diagnosis of CF through neonatal screening combined with aggressive nutritional therapy can result

Demographics of the UK cystic fibrosis population: implications for neonatal screening

“…2 The Cochrane review 4 found a second randomised controlled trial from the UK 5 that did not show a benefit to early diagnosis but is of interest that in the latter study, patients screened for CF were not all referred to a specialist centre for their care. Thus the criterion that appropriate treatment facilities should be in place postscreening was not met in this study.…”

“…It is presently unknown whether survival will improve further with the introduction of neonatal screening for cystic fibrosis in Scotland in 2002/3, because the impact of the CFTR mutation on the subsequent pattern and severity of symptoms experienced by the patient remains controversial. With respect to neonatal screening, Farrell's Wisconsin cohort has shown some patient benefits of screening through long-term surveillance 2 but the controversy will only be settled by long-term analysis of trends using CF Registries. The UK CF Database contains such a registry within one of its modules and aims to analyse the clinical details of every cystic fibrosis patient in the United Kingdom who attends a specialist CF centre.…”

Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

“…2 However, only 1440 CF patients in Poland (of over 38 million inhabitants) were registered in Polish Cystic Fibrosis Registry (data from 30 September 2010). 3 According to the Wisconsin Cystic Fibrosis Neonatal Screening Study Group and others, 4,5 newborn screening for CF (NBS CF) provides an immediate and accurate diagnosis, often before the onset of clinical symptoms and is associated with significantly improved physical development and a lower prevalence of lung infections. Neonatal screening for CF has been widely implemented and accepted, however, ethical aspects with regard to possible benefits and risks are still a matter of debate.…”

Programa de triagem neonatal para fibrose cística no estado do Paraná: avaliação após 30 meses de sua implantação

“…[7][8][9][10][11][12][13] In Paraná, the mean age at diagnosis of CF used to be 1.6 years. 3 With the advent of neonatal screening it is possible to confirm diagnosis during the second month of life.…”