One-year evaluation of a neonatal screening program for cystic fibrosis in Switzerland;Neugeborenen-Screening auf zystische Fibrose in der Schweiz

Deutsches Arzteblatt International

Volumn 110, Issue 20, 2013, Pages 356-363

  Rueegg, Corina S ^a   Kuehni, Claudia E ^a   Gallati, Sabina ^a   Baumgartner, Matthias ^a   Torresani, Toni ^a   Barben, Juerg ^a  

^a Ostschweizer Kinderspital   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

TRYPSINOGEN;

ARTICLE; CYSTIC FIBROSIS; DIAGNOSTIC TEST ACCURACY STUDY; DNA SCREENING; EMOTION; GENE MUTATION; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MECONIUM ILEUS; NEWBORN; NEWBORN SCREENING; PATIENT CARE; PATIENT REFERRAL; PREDICTIVE VALUE; QUESTIONNAIRE; SCREENING TEST; SENSITIVITY AND SPECIFICITY; SWITZERLAND;

EID: 84906329120     PISSN: 18660452     EISSN: None     Source Type: Journal    
DOI: 10.3238/arztebl.2013.0356     Document Type: Article

References (24)

1. Crossley JR, Elliot RB, Smith PA: Dried blood spot screening for cystic fibrosis in the newborn. Lancet 1979; 313: 472-4.
2. Crossley JR, Smith PA, Edgar B.W., Gluckman PD, Elliott RB: Neonatal screening for cystic fibrosis, using immunoreactive trypsin assay in dried blood spots. Clin Chim Acta 1981; 113: 111-21.
3. Massie J, Clements B: Diagnosis of cystic fibrosis after newborn screening: The Australasian experience-twenty years and five million babies later: a consensus statement from the Australasian Paediatric Respiratory Group. Pediatr Pulmonol 2005; 39: 440-6.
4. Balfour-Lynn IM: Newborn screening for cystic fibrosis: evidence for benefit. Arch Dis Child 2008; 93: 7-10.
5. Brice P, Jarrett J, Mugford M: Genetic screening for cystic fibro-sis: An overview of the science and the economics. J Cyst Fibros 2007; 6: 255-61.
6. Southern KW, Munck A, Pollitt R., et al.: A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros 2007; 6: 57-65.
7. Grosse SD, Boyle CA, Botkin J.R., et al.: Newborn Screening for Cystic Fibrosis: Evaluation of Benefit and Risks and Recommendations for State Newborn Screening Programs. MMWR 2004; 53(RR-13): 1-36.
8. Castellani C, Southern KW, Brownlee K, et al: European best practice guidelines for cystic fibrosis neonatal screening. J Cyst Fibros 2009; 8: 153-73.
9. Comeau AM, Accurso FJ, White T.B., et al.: Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report. Pediatrics 2007; 119: e495-e518.
10. Harms E, Olgemöller B: Neonatal screening for metabolic and endocrine disorders. Dtsch Arztebl Int 2011; 108(1-2): 11-22.
11. Barben J, Torresani T, Schoeni M., Gallati S, Baumgartner M: Neugeborenen-Screening auf Cystische Fibrose - ab 1. Januar auch in der Schweiz. Paediatrica 2010; 21: 38-9.
12. Barben J, Gallati S, Fingerhut R., Schoeni MH, Baumgartner MR, Torresani T: Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland. J Cyst Fibros 2012; 11: 332-6.
13. Barben J, Baumgartner M, Torresani T: Neugeborenen-Screening auf Cystische Fibrose. Forum News 2011; 3: 24-7.
14. Farrell PM, Rosenstein BJ, White T.B., et al.: Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr 2008; 153: 4-14.
15. LeGrys VA, Yankaskas JR, Quittell L.M., Marshall BC, Mogayzel PJ, Jr: Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines. J Pediatr 2007; 151: 85-9.
16. Barben J, Ammann RA, Metlagel A, Schoeni MH: Conductivity determined by a new sweat analyzer compared with chloride concentrations for the diagnosis of cystic fibrosis. J Pediatr 2005; 146: 183-8.
17. Desax MC, Ammann R, Hammer J., Schoeni M, Barben J: Nano-duct sweat testing for rapid diagnosis in newborns, infants and children with cystic fibrosis. Eur J Pediatr 2008; 167: 299-304.
18. Green A, Kirk J: Guidelines for the performance of the sweat test for the diagnosis of cystic fibrosis. Ann Clin Biochem 2007; 44: 25-34.
19. Borowitz D, Parad RB, Sharp J.K., et al.: Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J Pediatr 2009; 155 (6, Supplement): 106-16.
20. Borowitz D, Robinson KA, Rosenfeld M, et al: Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. J Pediatr 2009; 155(6, Supplement): 73-93.
21. Kerem E, Conway S, Elborn S., Heijerman H: Standards of care for patients with cystic fibrosis: a European consensus. J Cyst Fibros 2005; 4: 7-26.
22. International Society for Neonatal Screening (ISNS), Standing Committee on Quality Assurance: Lexicon of terms to be used in newborn screening. 2005; www.isns-neoscreening.org/htm/facts-sheets.htm. Last accessed April 2013.
23. Mayell SJ, Munck A, Craig J.V., et al.: A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis. J Cyst Fibros 2009; 8: 71-8.
24. Beucher J, Leray E, Deneuville E., et al.: Psychological effects of false-positive results in cystic fibrosis newborn screening: a two-year follow-up. J Pediatr 2010; 156: 771-6.