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Newborn screening for cystic fibrosis

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References

  • Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989;245(4922):1066-73
  • The metabolic and molecular basis of inherited disease, in cystic fibrosis. Welsh M, Scriver CR, Beaudet AL, et al.Scriver CR. editors. McGraw-Hill; New York: 2001. p. 5121-88
  • Ratjen F, Rowe SM, Goss CL, et al. Cystic Fibrosis. Nat Rev Dis Prim, 2015
  • Canada. Report of the Canadian Patient Data Registry 2013
  • Chopra R, Paul L, Manickam R, et al. Efficacy and adverse effects of drugs used to treat adult cystic fibrosis. Expert Opin Drug Saf 2015;1-11
  • Chevreul K, Berg Brigham K, Michel M, et al. Costs and health-related quality of life of patients with cystic fibrosis and their carers in France. J Cyst Fibros 2015
  • Ramsey BW, Davies J, McElvaney NG, et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med 2011;365(18):1663-72
  • Boyle MP, Bell SC, Konstan MW, et al. A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial. Lancet Respir Med 2014;2(7):527-38
  • FDA Approves ORKAMBI™ (lumacaftor/ivacaftor) - the First Medicine to Treat the Underlying Cause of Cystic Fibrosis for People Ages 12 and Older with Two Copies of the F508del Mutation. Available from: http://investors.vrtx.com/releasedetail.cfm?releaseid=920512
  • Sly PD, Brennan S, Gangell C, et al. Lung disease at diagnosis in infants with cystic fibrosis detected by newborn screening. Am J Respir Crit Care Med 2009;180(2):146-52
  • Davis SD, Fordham LA, Brody AS, et al. Computed tomography reflects lower airway inflammation and tracks changes in early cystic fibrosis. Am J Respir Crit Care Med 2007;175(9):943-50
  • Sly PD, Gangell CL, Chen L, et al. Risk factors for bronchiectasis in children with cystic fibrosis. N Engl J Med 2013;368(21):1963-70
  • Report of a WHO Scientific Group. Screening for inborn errors of metabolism. World Health Organ Tech Rep Ser 1968;401:1-57
  • Anne Andermann IB. Sylvie Beauchamp, Véronique Dér, Revisiting Wilson and Jungner in the genomic age: A review of screening criteria over the past 40 years. Bulletin of the World Health Organization 2008;86(4):241-320
  • Crossley JR, Elliott RB, Smith PA. Dried-blood spot screening for cystic fibrosis in the newborn. Lancet 1979;1(8114):472-4
  • Gibson LE, Cooke RE. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics 1959;23(3):545-9
  • Rock MJ, Hoffman G, Laessig RH, et al. Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing. J Pediatr 2005;147(3 Suppl):S73-7
  • Lagoe E, Labella S, Arnold G, et al. Cystic fibrosis newborn screening: a pilot study to maximize carrier screening. Genet Test 2005;9(3):255-60
  • Merelle ME, Schouten JP, Gerritsen J, et al. Influence of neonatal screening and centralized treatment on long-term clinical outcome and survival of CF patients. Eur Respir J 2001;18(2):306-15
  • Dankert-Roelse JE, te Meerman GJ. Long term prognosis of patients with cystic fibrosis in relation to early detection by neonatal screening and treatment in a cystic fibrosis centre. Thorax 1995;50:7:712-18
  • Waters DL, Wilcken B, Irwing L, et al. Clinical outcomes of newborn screening for cystic fibrosis. Arch Dis Child Fetal Neonatal Ed 1999;80(1):F1-7
  • 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(3 Suppl):S47-50
  • Mastella G, Zanolla L, Castellani C, et al. Neonatal screening for cystic fibrosis: long-term clinical balance. Pancreatology 2001;1(5):531-7
  • Wang SS, O’Leary LA, Fitzsimmons SC, et al. The impact of early cystic fibrosis diagnosis on pulmonary function in children. J Pediatr 2002;141(6):804-10
  • Lai HJ, Cheng Y, Cho H, et al. Association between initial disease presentation, lung disease outcomes, and survival in patients with cystic fibrosis. Am J Epidemiol 2004;159(6):537-46
  • Grosse SD, Rosenfeld M, Devine OJ, et al. Potential impact of newborn screening for cystic fibrosis on child survival: a systematic review and analysis. J Pediatr 2006;149(3):362-6
  • Hammond KB, Abman SH, Sokol RJ, et al. Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations. N Engl J Med 1991;325(11):769-74
  • Farrell PM, Kosorok MR, Laxova A, et al. Nutritional benefits of neonatal screening for cystic fibrosis. Wisconsin Cystic Fibrosis Neonatal Screening Study Group. N Engl J Med 1997;337(14):963-9
  • Shwachman H, Mahmoodian A. Pilocarpine iontophoresis sweat testing results of seven years’ experience. Bibl Paediatr 1967;86:158-82
  • Campbell PW, White TB3rd. Newborn screening for cystic fibrosis: an opportunity to improve care and outcomes. J Pediatr 2005;147(3 Suppl):S2-5
  • Mayell SJ, Munck A, Craig JV, 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(1):71-8
  • Cystic Fibrosis F, Borowitz D, Parad RB, 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 Suppl):S106-16
  • Assael BM, Castellani C, Ocampo MB, et al. Epidemiology and survival analysis of cystic fibrosis in an area of intense neonatal screening over 30 years. Am J Epidemiol 2002;156(5):397-401
  • Wilcken B, Brown AR, Urwin R, et al. Cystic fibrosis screening by dried blood spot trypsin assay: results in 75,000 newborn infants. J Pediatr 1983;102(3):383-7
  • Massie RJ, Wilcken B, Van Asperen P, et al. Pancreatic function and extended mutation analysis in DeltaF508 heterozygous infants with an elevated immunoreactive trypsinogen but normal sweat electrolyte levels. J Pediatr 2000;137(2):214-20
  • Sontag MK, Hammond KB, Zielenski J, et al. Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes. J Pediatr 2005;147(3 Suppl):S83-8
  • Hale JE, Parad RB, Dorkin HL, et al. Cystic fibrosis newborn screening: using experience to optimize the screening algorithm. J Inherit Metab Dis 2010;33(Suppl 2):S255-61
  • Lim MT, Wallis C, Price JF, et al. Diagnosis of cystic fibrosis in London and South East England before and after the introduction of newborn screening. Arch Dis Child 2014;99(3):197-202
  • Edminson PD, Michalsen H, Aagenaes O, et al. Screening for cystic fibrosis among newborns in Norway by measurement of serum/plasma trypsin-like immunoreactivity. Results of a 2 1/2-year pilot project. Scand J Gastroenterol Suppl 1988;143:13-18
  • Pollak A, Kasper DC. Austrian Newborn Screening Program: a perspective of five decades. J Perinat Med 2014;42(2):151-8
  • Audrezet MP, Munck A, Scotet V, et al. Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy. Genet Med 2015;17(2):108-16
  • Southern KW, Munck A, Pollitt R, et al. A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros 2007;6(1):57-65
  • Castellani C, Southern KW, Brownlee K, et al. European best practice guidelines for cystic fibrosis neonatal screening. J Cyst Fibros 2009;8(3):153-73
  • Rodrigues R, Magalhaes PK, Fernandes MI, et al. Neonatal screening for cystic fibrosis in Sao Paulo State, Brazil: a pilot study. Braz J Med Biol Res 2009;42(10):973-8
  • Wagener JS, Zemanick ET, Sontag MK. Newborn screening for cystic fibrosis. Curr Opin Pediatr 2012;24(3):329-35
  • Rosenthal M. Newborn screening for cystic fibrosis: the motion against–voices in the wilderness. Paediatr Respir Rev 2008;9(4):295-300
  • McKay K, Wilcken B. Newborn screening for cystic fibrosis offers an advantage over symptomatic diagnosis for the long term benefit of patients: the motion for. Paediatr Respir Rev 2008;9(4):290-4
  • Southern KW, Mérelle MM, Dankert-Roelse JE, et al. Newborn screening for cystic fibrosis. Cochrane Database Syst Rev 2009(1):CD001402
  • Koscik RL, Farrell PM, Kosorok MR, et al. Cognitive function of children with cystic fibrosis: deleterious effect of early malnutrition. Pediatrics 2004;113(6):1549-58
  • Farrell PM, Shen G, Splaingard M, et al. Acquisition of Pseudomonas aeruginosa in children with cystic fibrosis. Pediatrics 1997;100(5):E2
  • Sanders DB, Li Z, Laxova A, et al. Risk factors for the progression of cystic fibrosis lung disease throughout childhood. Ann Am Thorac Soc 2014;11(1):63-72
  • 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(1 Spec No):29-33
  • Accurso FJ, Sontag MK, Wagener JS. Complications associated with symptomatic diagnosis in infants with cystic fibrosis. J Pediatr 2005;147(3 Suppl):S37-41
  • Sims EJ, McCormick J, Mehta G, et al. Neonatal screening for cystic fibrosis is beneficial even in the context of modern treatment. J Pediatr 2005;147(3 Suppl):S42-6
  • Doull IJ, Ryley HC, Weller P, et al. Cystic fibrosis-related deaths in infancy and the effect of newborn screening. Pediatr Pulmonol 2001;31(5):363-6
  • Prosser R, Owen H, Bull F, et al. Screening for cystic fibrosis by examination of meconium. Arch Dis Child 1974;49(8):597-601
  • Kloosterboer M, Hoffman G, Rock M, et al. Clarification of laboratory and clinical variables that influence cystic fibrosis newborn screening with initial analysis of immunoreactive trypsinogen. Pediatrics 2009;123(2):e338-46
  • Massie RJ, Curnow L, Glazner J, et al. Lessons learned from 20 years of newborn screening for cystic fibrosis. Med J Aust 2012;196(1):67-70
  • Sommerburg O, Lindner M, Muckenthaler M, et al. Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population. J Inherit Metab Dis 2010;33(Suppl 2):S263-71
  • Sommerburg O, Hammermann J, Lindner M, et al. Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany. Pediatr Pulmonol 2015. [Epub ahead of print]
  • Arnold C. New cystic fibrosis genetic tests bring hope and dilemmas. Lancet Respir Med 2014;2(1):30
  • Cystic fibrosis mutation database. Available from: www.genet.sickkids.on.ca
  • Sosnay PR, Siklosi KR, Van Goor F, et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet 2013; Epub ahead of print
  • Ooi CY, Dupuis A, Ellis L, et al. Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis? Thorax 2014;69(3):254-60
  • Prach L, Koepke R, Kharrazi M, et al. Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. J Mol Diagn 2013;15(5):710-22
  • Salinas DB, Sosnay PR, Azen C, et al. Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants. J Cyst Fibros 2015. [Epub ahead of print]
  • 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(11):752-8
  • Sontag MK, Wright D, Beebe J, et al. A new cystic fibrosis newborn screening algorithm: IRT/IRT1 upward arrow/DNA. J Pediatr 2009;155(5):618-22
  • Sontag MK, Corey M, Hokanson JE, et al. Genetic and physiologic correlates of longitudinal immunoreactive trypsinogen decline in infants with cystic fibrosis identified through newborn screening. J Pediatr 2006;149(5):650-7
  • Ulph F, Cullinan T, Qureshi N, et al. Parents’ responses to receiving sickle cell or cystic fibrosis carrier results for their child following newborn screening. Eur J Hum Genet 2015;23(4):459-65
  • Tluczek A, Orland KM, Cavanagh L. Psychosocial consequences of false-positive newborn screens for cystic fibrosis. Qual Health Res 2011;21(2):174-86
  • Tluczek A, Laxova A, Grieve A, et al. Long-term follow-up of cystic fibrosis newborn screening: psychosocial functioning of adolescents and young adults. J Cyst Fibros 2014;13(2):227-34
  • Castellani C, Picci L, Scarpa M, et al. Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers. Am J Med Genet A 2005;135(2):142-4
  • Comeau AM, Larson C, Eaton RB. Integration of new genetic diseases into statewide newborn screening: New England experience. Am J Med Genet C Semin Med Genet 2004;125C(1):35-41
  • Parad RB, Comeau AM. Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm. J Pediatr 2005;147(3 Suppl):S78-82
  • Castellani C, Picci L, Tamanini A, et al. Association between carrier screening and incidence of cystic fibrosis. JAMA 2009;302(23):2573-9
  • Munck A, Mayell SJ, Winters V, et al. Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening. J Cyst Fibros 2015. [Epub ahead of print]
  • Ooi CY, Dupuis A, Ellis L, et al. Comparing the American and European diagnostic guidelines for cystic fibrosis: same disease, different language? Thorax 2012;67(7):618-24
  • Gonska T, Choi P, Stephenson A, et al. Role of cystic fibrosis transmembrane conductance regulator in patients with chronic sinopulmonary disease. Chest 2012;142(4):996-1004
  • Ren CL, Fink AK, Petren K, et al. Outcomes of Infants With Indeterminate Diagnosis Detected by Cystic Fibrosis Newborn Screening. Pediatrics 2015; Epub ahead of print
  • Ooi CY, Castellani C, Keenan K, et al. Inconclusive diagnosis of cystic fibrosis after newborn screening. Pediatrics 2015; Epub ahead of print
  • Narzi L, Ferraguti G, Stamato A, et al. Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up. Clin Genet 2007;72(1):39-46
  • Massie J, Gillam L. Uncertain diagnosis after newborn screening for cystic fibrosis: An ethics-based approach to a clinical dilemma. Pediatr Pulmonol 2014;49(1):1-7
  • Groves T, Robinson P, Wiley V, et al. Long-Term Outcomes of Children with Intermediate Sweat Chloride Values in Infancy. J Pediatr 2015. [Epub ahead of print]
  • Ren CL, Desai H, Platt M, et al. Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome. Pediatr Pulmonol 2011;46(11):1079-84
  • Perobelli S, Zanolla L, Tamanini A, et al. Inconclusive cystic fibrosis neonatal screening results: long-term psychosocial effects on parents. Acta Paediatr 2009;98(12):1927-34

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