Journal of Inherited Metabolic Disease

, Volume 30, Issue 4, pp 544–555

Cystic fibrosis: Benefits and clinical outcome

Newborn Screening


Diagnosis of cystic fibrosis (CF), the most common life-limiting recessive genetic condition in the caucasian population, via NBS is now occurring in many regions of the world. There is evidence that newborn screening (NBS) for CF may prevent malnutrition in infants with pancreatic-insufficient CF and may have an impact upon later growth and development. Progression of lung disease in CF is the major determinant of quality of life and of survival. There is no clear evidence of an advantage for those diagnosed by NBS programmes in terms of the progression of lung disease as measured by lung function. Some studies show better preservation of lung function, while others fail to show such an outcome. This is also true for respiratory infections and acquisition of the most significant respiratory pathogen in CF—Pseudomonas aeruginosa. There is, however, evidence that an advantage may be accrued by early diagnosis made possible by NBS in terms of lung disease as measured by pulmonary imaging. Those diagnosed via NBS have an apparent advantage in terms of a reduction in the number and duration of hospitalizations, particularly in infancy, as well as the need for antibiotic usage. There is also evidence from a number of sources for a lifetime survival advantage for those with CF diagnosed via NBS programmes, with the most significant advantage being for survival during infancy.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Accurso FJ, Sokol RJ, Hammond KB, Abman SH (1991) Early respiratory course in infants with cystic fibrosis: relevance to newborn screening. Pediatr Pulmonol 7: s42–s45.CrossRefGoogle Scholar
  2. Accurso FJ, Sontag MK, Wagener JS (2005) Complications associated with symptomatic diagnosis in infants with cystic fibrosis. J Paediatr 147: s37–s41.CrossRefGoogle Scholar
  3. Assael BM, Castellani C, Ocampo MB, Iansa P, Callegaro A, Valsecchi MG (2002) Epidemiology and survival analysis of cystic fibrosis in an area of intense neonatal screening over 30 years. Am J Epidemiol 156: 397–401.PubMedCrossRefGoogle Scholar
  4. Chatfield S, Owen G, Ryley HC, et al (1991) Neonatal screening for cystic fibrosis in Wales and the West Midlands: clinical assessment after 5 years of screening. Arch Dis Child 66: 29–33.PubMedGoogle Scholar
  5. Corrigan JJ, Taussig LM, Beckerman R, Wagener JS (1981) Factor II (prothrombin) coagulant activity in immunoreactive protein: detection of vitamin K deficiency and liver disease in patients with cystic fibrosis. J Pediatr 99: 254–257.PubMedCrossRefGoogle Scholar
  6. Dankert-Roelse JE, te Meerman GJ (1995) Long term prognosis of patients with cystic fibrosis in relation to early detection by neonatal screening and treatment in a cystic fibrosis centre. Thorax 50: 712–718.PubMedGoogle Scholar
  7. Dankert-Roelse JE, te Meerman GJ, Martjin A, ten Kate LP, Knol K (1989) Survival and clinical outcome in patients with cystic fibrosis, with or without neonatal screening. J Pediatr 114: 362–367.PubMedCrossRefGoogle Scholar
  8. Danks DM, Allan JL, Anderson CM (1965) A genetic study of fibrocystic disease of the pancreas. Ann Human Gen 28: 323–356.Google Scholar
  9. Davis PB (2006) Cystic fibrosis since 1938. Am J Respir Crit Care Med 173: 475–482.PubMedCrossRefGoogle Scholar
  10. Doull IJM, Ryley HC, Weller P, Goodchild MC (2001) Cystic fibrosis-related deaths in infancy and the effect of newborn screening. Pediatr Pulmonol 31: 363–366.PubMedCrossRefGoogle Scholar
  11. Emerson J, Rosenfeld M, McNamara S, Ramsey B, Gibson RL (2002) Pseudomonas aeruginosa and other predictors of mortality and morbidity in young children with cystic fibrosis. Pediatr Pulmonol 34: 91–100.PubMedCrossRefGoogle Scholar
  12. Farrell PM, Bieri JG, Fratononi JF, Wood RE, di Sant’Agnese PA (1977) The occurrence and effects of human vitamin E deficiency—a study in patients with cystic fibrosis. J Clin Invest 60: 233–241.PubMedCrossRefGoogle Scholar
  13. Farrell PM, Kosorok MR, Laxova A, et al (1997a) Nutritional benefits of neonatal screening for cystic fibrosis. N Engl J Med 337: 963–969.PubMedCrossRefGoogle Scholar
  14. Farrell PM, Shen G, Splaingard M, et al (1997b) Acquisition of Pseudomonas aeruginosa in children with cystic fibrosis. Pediatrics 100: e2.PubMedCrossRefGoogle Scholar
  15. Farrell PM, Kosorok MR, Rock MJ, et al (2001) Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Pediatrics 107: 1–13.PubMedCrossRefGoogle Scholar
  16. Farrell PM, Li Z, Kosorok MR, et al (2003) Bronchopulmonary disease in children with cystic fibrosis after early or delayed diagnosis. Am J Respir Crit Care Med 168: 1100–1108.PubMedCrossRefGoogle Scholar
  17. Farrell PM, Lai HCJ, Li Z, et al (2005) Evidence on improved outcomes with early diagnosis of cystic fibrosis through neonatal screening: enough is enough! J Pediatr 147: s30–s36.PubMedCrossRefGoogle Scholar
  18. Grosse SD, Rosenfeld M, Devine OJ, Lai HJ, Farrell PM (2006) Potential impact of newborn screening for cystic fibrosis on child survival: a systematic review and analysis. J Pediatr 149: 362–366.PubMedCrossRefGoogle Scholar
  19. Koscik RL, Farrell PM, Kosorok MR, et al (2004) Cognitive function of children with cystic fibrosis: deleterious effect of early malnutrition. Pediatrics 113: 1549–1558.PubMedCrossRefGoogle Scholar
  20. Lai HC, Kosorok MR, Sondel SA, et al (1998) Growth status in children with cystic fibrosis based on the National Cystic Fibrosis Patient Registry data: evaluation of various criteria used to identify malnutrition. J Pediatr 132: 478–485.PubMedCrossRefGoogle Scholar
  21. Lai HCJ, Cheng Y, Cho H, Kosorok MR, Farrell PM (2004) Association between initial disease presentation, lung disease outcomes, and survival in patients with cystic fibrosis. Am J Epidemiol 159: 537–546.PubMedCrossRefGoogle Scholar
  22. Mastella G, Zanolla L, Castellani C, et al (2001) Neonatal screening for cystic fibrosis: long-term clinical balance. Pancreatology 1: 531–537.PubMedCrossRefGoogle Scholar
  23. McKay KO, Waters DL, Gaskin KJ (2005) The influence of newborn screening for cystic fibrosis on pulmonary outcomes in New South Wales. J Pediatr 147: s47–s50.PubMedCrossRefGoogle Scholar
  24. Mérelle ME, Dankert-Roelse JE, Dezateux C, Lees C, Nagelkerke A, Southern KW (2001a) Newborn screening for cystic fibrosis. Cochrane Database of Systematic Reviews Issue 3. Art No: CD00142. doi:10.1002/14651858.CD001402.
  25. Mérelle ME, Schouten JP, Gerritsen J, Dankert-Roelse JE (2001b) Influence of neonatal screening and centralized treatment on long-term clinical outcome and survival of CF patients. Eur Respir J 18: 306–315.PubMedCrossRefGoogle Scholar
  26. Rosenstein BJ, Zeitlin PL (1998) Cystic fibrosis. The Lancet 351: 277–282.CrossRefGoogle Scholar
  27. Saiman L (2004) Microbiology of early CF lung disease. Pediatr Respir Rev 5: s367–369.CrossRefGoogle Scholar
  28. Sims EJ, McCormick J, Mehta G, Mehta A (2005a) Neonatal screening for cystic fibrosis is beneficial even in the context of modern treatment. J Pediatr 147: s42–s46.PubMedCrossRefGoogle Scholar
  29. Sims EJ, McCormick J, Mehta G, Mehta A (2005b) Newborn screening for cystic fibrosis is associated with reduced treatment intensity. J Pediatr 147: 306–311.PubMedCrossRefGoogle Scholar
  30. Siret D, Bretaudeau G, Branger B, et al (2003) Comparing the clinical evolution of cystic fibrosis screened neonatally to that of cystic fibrosis diagnosed from clinical symptoms: a 10 year retrospective study in a French Region (Brittany). Pediatr Pulmonol 35: 342–349.PubMedCrossRefGoogle Scholar
  31. Solomons NW, Wagonfield JB, Rieger C, et al (1981) Some biochemical indices of nutrition in treated cystic fibrosis patients. Am J Clin Nutr 34: 462–474.PubMedGoogle Scholar
  32. Tsui LC, Buchwald M, Barker D, et al (1985) Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science 230: 1054–1057.PubMedCrossRefGoogle Scholar
  33. Wang SS, FitzSimmons SC, O’Leary LA, Rock MJ, Gwinn ML, Khoury MJ (2001) Early diagnosis of cystic fibrosis in the newborn period and risk of Pseudomonas aeruginosa acquisition in the first 10 years of life: a registry-based longitudinal study. Pediatrics 107: 274–279.PubMedCrossRefGoogle Scholar
  34. Waters DL, Wilcken B, Irwig L, et al (1999) Clinical outcomes of newborn screening for cystic fibrosis. Arch Dis Child Fetal Neonatal Ed 80: F1–F7.PubMedCrossRefGoogle Scholar
  35. Wilcken B, Chalmers G (1985) Reduced morbidity in patients with cystic fibrosis detected by neonatal screening. The Lancet 326: 1319–1321.CrossRefGoogle Scholar
  36. Wilmott RW, Tyson SL, Matthew DJ (1985) Cystic fibrosis survival rates: the influences of allergy and Pseudomonas aeruginosa. Arch Dis Child 139: 669–671.Google Scholar

Copyright information

© SSIEM and Springer 2007

Authors and Affiliations

  1. 1.Department of Respiratory Medicine, The Children’s Hospital at Westmead, and The Children’s Hospital at Westmead Clinical SchoolThe University of SydneyNew South WalesAustralia
  2. 2.Department of Respiratory MedicineThe Children’s Hospital at WestmeadWestmeadAustralia

Personalised recommendations