Neonatal screening programme for CF: Results from the Irish Comparative Outcomes Study (ICOS).
ICOS
cohort
cystic fibrosis
screening
Journal
Pediatric pulmonology
ISSN: 1099-0496
Titre abrégé: Pediatr Pulmonol
Pays: United States
ID NLM: 8510590
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
20
02
2020
revised:
23
04
2020
accepted:
09
05
2020
pubmed:
30
5
2020
medline:
12
1
2021
entrez:
30
5
2020
Statut:
ppublish
Résumé
The introduction of NBS in Ireland in July 2011, provided a unique opportunity to investigate clinical outcomes using a comparative historical cohort study. Clinical cohort: children clinically diagnosed with CF born 1 July 2008 to 30 June 2011, and NBS cohort: children diagnosed with CF through NBS born 1 July 2011 to 30 June 2016. Clinical data were collected from the CF Registry of Ireland, medical charts, and data on weight/height before diagnosis from public health nurses and family doctors. SPSS was used for analysis. A total of 232 patients were recruited (response 93%) (93 clinically diagnosed, 139 NBS-detected). Following exclusions of meconium ileus (MI) (40), diagnosis outside Ireland (4), and being designated as CFSPID (2), a total of 77 clinically diagnosed patients and 109 NBS detected children were included in analysis. Over half were homozygous for F508del mutation. Being clinically diagnosed was independently associated with hospitalization for infective exacerbation of CF < 36 months (OR, 2.80; 95%CI 1.24-6.29). Diagnosis to first acquisition of Pseudomonas aeruginosa was significantly longer in NBS than clinically detected; from birth there was no significant difference. Weight and length/height were significantly greater in NBS cohort at 6 and 12 months. We provide evidence of improved growth, reduced hospitalization for acute exacerbations, and delayed P. aeruginosa acquisition (from diagnosis) to age 3 for the NBS cohort. Screening practices likely account for the non-significant difference in P. aeruginosa acquisition from birth.
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2323-2329Subventions
Organisme : Health Research Board
ID : HRA PHR 2013 311
Pays : Ireland
Informations de copyright
© 2020 Wiley Periodicals LLC.
Références
Balfour-Lynn IM. Newborn screening for cystic fibrosis: evidence for benefit. Arch Dis Child. 2008;93:7-10.
Wald NJ, Morris JK. Neonatal screening for cystic fibrosis. BMJ. 1998;316:404-405.
Wilcken B, Brown AR, Urwin R, Brown DA. Cystic fibrosis screening by dried blood spot trypsin assay: results in 75,000 newborn infants. J Pediatr. 1983;102:383-387.
Chatfield S, Owen G, Ryley HC, et al. Neonatal screening for cystic fibrosis in Wales and the West Midlands: clinical assessment after five years of screening. Arch Dis Child. 1991;66:29-33.
Farrell PM, Kosorok MR, Laxova A, et al. Nutritional benefits of neonatal screening for cystic fibrosis. New Engl J Med. 1997;337:963-969.
Sims EJ, McCormick J, Mehta G, Mehta A. Neonatal screening for cystic fibrosis is beneficial even in the context of modern treatment. J Pediatr. 2005;147:S42-S46.
Sims EJ, McCormick J, Mehta G, Mehta A. Newborn screening for cystic fibrosis is associated with reduced treatment intensity. J Pediatr. 2005;147:306-311.
McKay KO, Waters DL, Gaskin KJ. The influence of newborn screening for cystic fibrosis on pulmonary outcomes in new South Wales. J Pediatr. 2005;147:S47-S50.
Massie J, Clements B, Australian Paediatric Respiratory Group. 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;39:440-446.
Dijk FN, McKay K, Barzi F, Gaskin KJ, Fitzgerald DA. Improved survival in cystic fibrosis patients diagnosed by newborn screening compared to a historical cohort from the same centre. Arch Dis Child. 2011;96:1118-1123.
Sermet-Gaudelus I, Mayell SJ, Southern KW, European Cystic Fibrosis Society Neonatal Screening Working Group. Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. J Cyst Fibros. 2010;9:323-329.
Ramsey BW. To cohort or not to cohort: how transmissible is Pseudomonas aeruginosa? Am J Respir Crit Care Med. 2002;166:906-907.
Castellani C, Massie J, Sontag M, Southern KW. Newborn screening for cystic fibrosis. Lancet Respir Med. 2016;4:653-661.
Farrell P, Joffe S, Foley L, Canny GJ, Mayne P, Rosenberg M. Diagnosis of cystic fibrosis in the Republic of Ireland: epidemiology and costs. Ir Med J. 2007;100:557-560.
Cystic Fibrosis Registry of Ireland. Cystic Fibrosis Registry of Ireland 2012 Annual Report. Dublin, Ireland. 2014.
Central Statistics Office. Census 2016 Summary Results - Part 1. Dublin, Ireland 2017.: https://www.cso.ie/en/media/csoie/newsevents/documents/census2016summaryresultspart1/Census2016SummaryPart1.pdf. Accessed September 24, 2019.
Thauvin-Robinet C, Munck A, Huet F, et al. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. J Med Genet. 2009;46:752-758.
Cystic Fibrosis Registy of Ireland. https://www.cfri.ie/. Accessed September 24, 2019.
Linnane BM, Hall GL, Nolan G, et al. Lung function in infants with cystic fibrosis diagnosed by newborn screening. Am J Respir Crit Care Med. 2008;178:1238-1244.
Long FR, Williams RS, Castile RG. Structural airway abnormalities in infants and young children with cystic fibrosis. J Pediatr. 2004;144:154-161.
Mott LS, Park J, Murray CP, et al. Progression of early structural lung disease in young children with cystic fibrosis assessed using CT. Thorax. 2012;67:509-516.
Nixon GM, Armstrong DS, Carzino R, et al. Early airway infection, inflammation, and lung function in cystic fibrosis. Arch Dis Child. 2002;87:306-311.
Ranganathan SC, Bush A, Dezateux C, et al. Relative ability of full and partial forced expiratory maneuvers to identify diminished airway function in infants with cystic fibrosis. Am J Respir Crit Care Med. 2002;166:1350-1357.
Ranganathan SC, Stocks J, Dezateux C, et al. The evolution of airway function in early childhood following clinical diagnosis of cystic fibrosis. Am J Respir Crit Care Med. 2004;169:928-933.
Rosenfeld M, Emerson J, Accurso F, et al. Diagnostic accuracy of oropharyngeal cultures in infants and young children with cystic fibrosis. Pediatr Pulmonol. 1999;28:321-328.
Sly PD, Gangell CL, Chen L, et al. Risk factors for bronchiectasis in children with cystic fibrosis. New Engl J Med. 2013;368:1963-1970.
Konstan MW, Butler SM, Wohl ME, et al. Growth and nutritional indexes in early life predict pulmonary function in cystic fibrosis. J Pediatr. 2003;142:624-630.
Simmonds NJ, Macneill SJ, Cullinan P, Hodson ME. Cystic fibrosis and survival to 40 years: a case-control study. Eur Respir J. 2010;36:1277-1283.
Byrnes CA, Vidmar S, Cheney JL, et al. Prospective evaluation of respiratory exacerbations in children with cystic fibrosis from newborn screening to 5 years of age. Thorax. 2013;68:643-651.
Mak DY, Sykes J, Stephenson AL, Lands LC. The benefits of newborn screening for cystic fibrosis: the Canadian experience. J Cyst Fibros. 2016;15:302-308.
Peleg AY, Hooper DC. Hospital-acquired infections due to gram-negative bacteria. New Engl J Med. 2010;362:1804-1813.
Jarad NA, Giles K. Risk factors for increased need for intravenous antibiotics for pulmonary exacerbations in adult patients with cystic fibrosis. Chron Respir Dis. 2008;5:29-33.
Kerem E, Corey M, Kerem BS, et al. The relation between genotype and phenotype in cystic fibrosis-analysis of the most common mutation (delta F508). New Engl J Med. 1990;323:1517-1522.
Slieker MG, van den Berg JM, Kouwenberg J, van Berkhout FT, Heijerman HG, van der Ent CK. Long-term effects of birth order and age at diagnosis in cystic fibrosis: a sibling cohort study. Pediatr Pulmonol. 2010;45:601-607.
West SE, Zeng L, Lee BL, et al. Respiratory infections with Pseudomonas aeruginosa in children with cystic fibrosis: early detection by serology and assessment of risk factors. JAMA. 2002;287:2958-2967.
Waters DL, Wilcken B, Irwing L, et al. Clinical outcomes of newborn screening for cystic fibrosis. Arch Dis Child Fetal Neonatal Ed. 1999;80:F1-F7.
Rosenfeld M, Ratjen F, Brumback L, et al. ISIS Study Group. Inhaled hypertonic saline in infants and children younger than 6 years with cystic fibrosis: the ISIS randomized controlled trial. JAMA. 2012;307:2269-2277.
Farrell MH, Farrell PM. Newborn screening for cystic fibrosis: ensuring more good than harm. J Pediatr. 2003;143:707-712.
Davies JC, Cunningham S, Harris WT, et al. Safety, pharmacokinetics, and pharmacodynamics of ivacaftor in patients aged 2-5 years with cystic fibrosis and a CFTR gating mutation (KIWI): an open-label,single-arm study. Lancet Respir Med. 2016;4(2):107-115.
McNamara JJ, McColley SA, Marigowda G, et al. Safety, pharmacokinetics, and pharmacodynamics of lumacaftor and ivacaftor combination therapy in children aged 2-5 years with cystic fibrosis homozygous for F508del-CFTR: an open-label phase 3 study. Lancet Respir Med. 2019;7:325-335.