Long term prognosis of patients with cystic fibrosis in relation to early detection by neonatal screening and treatment in a cystic fibrosis centre.

J E Dankert-Roelse, G J te Meerman

Department of Paediatrics, Paediatric Pulmonology, University of Groningen, The Netherlands.

BACKGROUND--A study was undertaken to evaluate whether an early diagnosis by neonatal screening may improve the long term prognosis of patients with cystic fibrosis and to assess the influence of expert management started immediately after the diagnosis. METHODS--Comparative clinical follow up in three birth cohorts of patients with cystic fibrosis was performed at the Cystic Fibrosis centre in Groningen in close collaboration with paediatricians in general hospitals in the north-eastern part of the Netherlands. The first birth cohort (n = 19) was detected by screening and the two other cohorts were detected clinically, one (n = 30) consisting of patients born during the screening programme and the other (n = 32) of patients born during the six years immediately after the screening programme ended. The total number of patients in the three birth cohorts included all patients with cystic fibrosis born in this area during a 12 year period. Cumulative survival rates and the variation with time of lung function, the levels of immunoglobulins, and growth patterns were used as main outcome measures. RESULTS--Patients born during the screening programme but detected clinically appeared to have a reduced life expectancy compared with patients detected by screening. The patients detected by screening showed less deterioration in lung function (annual decrease 1.2% of FEV1 % pred), a smaller increase in immunoglobulin levels, and minimal catch-up growth compared with an annual decrease of 3.25% of FEV1 % pred in the non-screened birth cohort of the same age, a higher rise in immunoglobulins leading to increased levels at the end of the observation period, and catch-up growth for weight as well as height. Differences between patients treated in a cystic fibrosis centre and those not referred to a specialist centre were smaller but similar, in favour of treatment at a cystic fibrosis clinic. CONCLUSIONS--Expert management started immediately after an early diagnosis of cystic fibrosis by neonatal screening results in important beneficial effects on the outcome and clinical course of the condition. The institution of very early treatment may be critical for the outcome and long term prognosis for most patients with cystic fibrosis. Neonatal screening programmes for cystic fibrosis should be introduced more widely.

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

Relevant Article

Neonatal screening for cystic fibrosis.

P D Phelan
Thorax 1995 50: 705-706. [PDF]

This article has been cited by other articles:

• Sims, E. J., Clark, A., McCormick, J., Mehta, G., Connett, G., Mehta, A., on behalf of the United Kingdom Cystic Fibrosis Da, (2007). Cystic Fibrosis Diagnosed After 2 Months of Age Leads to Worse Outcomes and Requires More Therapy. Pediatrics 119: 19-28 [Abstract] [Full Text]  
• Slieker, M. G., Uiterwaal, C. S. P. M., Sinaasappel, M., Heijerman, H. G. M., van der Laag, J., van der Ent, C. K. (2005). Birth Prevalence and Survival in Cystic Fibrosis: A National Cohort Study in the Netherlands. Chest 128: 2309-2315 [Abstract] [Full Text]  
• Smyth, R. L (2005). Diagnosis and management of cystic fibrosis. EDUCATION AND PRACTICE 90: ep1-ep6 [Full Text]  
• Kraemer, R., Blum, A., Schibler, A., Ammann, R. A., Gallati, S. (2005). Ventilation Inhomogeneities in Relation to Standard Lung Function in Patients with Cystic Fibrosis. Am. J. Respir. Crit. Care Med. 171: 371-378 [Abstract] [Full Text]  
• Farrell, P. M., Li, Z., Kosorok, M. R., Laxova, A., Green, C. G., Collins, J., Lai, H.-C., Rock, M. J., Splaingard, M. L. (2003). Bronchopulmonary Disease in Children with Cystic Fibrosis after Early or Delayed Diagnosis. Am. J. Respir. Crit. Care Med. 168: 1100-1108 [Abstract] [Full Text]  
• Assael, B. M., Castellani, C., Ocampo, M. B., Iansa, P., Callegaro, A., Valsecchi, M. G. (2002). Epidemiology and Survival Analysis of Cystic Fibrosis in an Area of Intense Neonatal Screening Over 30 Years. Am J Epidemiol 156: 397-401 [Abstract] [Full Text]  
• Lai, H.-C., Kosorok, M. R., Laxova, A., Makholm, L. M., Farrell, P. M. (2002). Delayed Diagnosis of US Females with Cystic Fibrosis. Am J Epidemiol 156: 165-173 [Abstract] [Full Text]  
• Merelle, M.E., Schouten, J.P., Gerritsen, J., Dankert-Roelse, J.E. (2001). Influence of neonatal screening and centralized treatment on long-term clinical outcome and survival of CF patients. Eur Respir J 18: 306-315 [Abstract] [Full Text]  
• Farrell, P. M., Kosorok, M. R., Rock, M. J., Laxova, A., Zeng, L., Lai, H.-C., Hoffman, G., Laessig, R. H., Splaingard, M. L., the Wisconsin Cystic Fibrosis Neonatal Screening S, (2001). Early Diagnosis of Cystic Fibrosis Through Neonatal Screening Prevents Severe Malnutrition and Improves Long-Term Growth. Pediatrics 107: 1-13 [Abstract] [Full Text]  
• Villa, M P, Pagani, J, Lucidi, V, Palamides, S, Ronchetti, R (2001). Nocturnal oximetry in infants with cystic fibrosis. Arch. Dis. Child. 84: 50-54 [Abstract] [Full Text]  
• Helbich, T. H., Heinz-Peer, G., Eichler, I., Wunderbaldinger, P., Götz, M., Wojnarowski, C., Brasch, R. C., Herold, C. J. (1999). Cystic Fibrosis: CT Assessment of Lung Involvement in Children and Adults. Radiology 213: 537-544 [Abstract] [Full Text]  
• Waters, D. L, Wilcken, B., Irwig, L., Van Asperen, P., Mellis, C., Simpson, J. M, Brown, J., Gaskin, K. J (1999). Clinical outcomes of newborn screening for cystic fibrosis. Arch. Dis. Child. Fetal Neonatal Ed. 80: 1F-7 [Abstract] [Full Text]  
• Cunningham, S., Marshall, T. (1998). Influence of five years of antenatal screening on the paediatric cystic fibrosis population in one region. Arch. Dis. Child. 78: 345-348 [Abstract] [Full Text]  
• Heine, R. G, Button, B. M, Olinsky, A., Phelan, P. D, Catto-Smith, A. G (1998). Gastro-oesophageal reflux in infants under 6 months with cystic fibrosis. Arch. Dis. Child. 78: 44-48 [Abstract] [Full Text]  
• Dankert-Roelse, J. E., te Meerman, G. J. (1997). Screening for Cystic Fibrosis -- Time to Change Our Position?. NEJM 337: 997-999 [Full Text]