Newborn screening for cystic fibrosis

The Lancet Respiratory Medicine

Volumn 4, Issue 8, 2016, Pages 653-661

  Castellani, Carlo ^a   Massie, John ^b   Sontag, Marci ^c   Southern, Kevin W ^d  

^a UNIVERSITY HOSPITAL OF VERONA   (Italy)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF COLORADO   (United States)

^d UNIVERSITY OF LIVERPOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

TRYPSINOGEN;

BIOETHICS; BLOOD EXAMINATION; CLINICAL OUTCOME; CLINICAL PROTOCOL; CLINICAL TRIAL (TOPIC); COHORT ANALYSIS; CYSTIC FIBROSIS; DIAGNOSTIC ACCURACY; DNA DETERMINATION; EARLY DIAGNOSIS; EPIDEMIOLOGICAL DATA; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; GENE MUTATION; HEALTH PROGRAM; HETEROZYGOTE; HUMAN; IMMUNOASSAY; IMMUNOREACTIVE TRYPSINOGEN ASSAY; IMMUNOREACTIVITY; MEDICAL RESEARCH; MOLECULAR PATHOLOGY; NEWBORN; NEWBORN BLOOD SPOT SCREENING; NEWBORN CARE; NEWBORN SCREENING; PATIENT MONITORING; PHENOTYPE; POPULATION RESEARCH; PREDICTIVE VALUE; PREVALENCE; PRIORITY JOURNAL; PROGRAM COST EFFECTIVENESS; REVIEW; SENSITIVITY AND SPECIFICITY; COST BENEFIT ANALYSIS; ECONOMICS; ENZYME IMMUNOASSAY; FEMALE; MALE; PROCEDURES; TRENDS;

COST-BENEFIT ANALYSIS; CYSTIC FIBROSIS; EARLY DIAGNOSIS; FEMALE; HUMANS; IMMUNOENZYME TECHNIQUES; INFANT, NEWBORN; MALE; NEONATAL SCREENING; TRYPSINOGEN;

EID: 84961864501     PISSN: 22132600     EISSN: 22132619     Source Type: Journal    
DOI: 10.1016/S2213-2600(16)00053-9     Document Type: Review

References (68)

1. 1 Kerem, E, Conway, S, Elborn, S, Heijerman, H, the Consensus Committee. Standards of care for patients with cystic fibrosis: a European consensus. J Cyst Fibros 4 (2005), 7–26.
2. 2 Conway, S, Balfour-Lynn, IM, De Rijcke, K, et al. European Cystic Fibrosis Society Standards of Care: Framework for the Cystic Fibrosis Centre. J Cyst Fibros 13:suppl 1 (2014), S3–22.
3. 3 Mahadeva, R, Webb, K, Westerbeek, RC, et al. Clinical outcome in relation to care in centres specialising in cystic fibrosis: cross sectional study. BMJ 316 (1998), 1771–1775.
4. 4 Johnson, C, Butler, SM, Konstan, MW, Morgan, W, Wohl, ME, Factors influencing outcomes in cystic fibrosis: a center-based analysis. Chest 123 (2003), 20–27.
5. 5 Crossley, JR, Elliott, RB, Smith, PA, Dried-blood spot screening for cystic fibrosis in the newborn. Lancet 1 (1979), 472–474.
6. 6 Ryley, HC, Neale, LM, Brogan, TD, Bray, PT, Screening for cystic fibrosis in the newborn by meconium analysis. Arch Dis Child 54 (1979), 92–97.
7. 7 Pederzini, F, Faraguna, D, Giglio, L, Pedrotti, D, Perobelli, L, Mastella, G, Development of a screening system for cystic fibrosis: meconium or blood spot trypsin assay or both?. Acta Paediatr Scand 79 (1990), 935–942.
8. 8 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 66 (1991), 29–33.
9. 9 Farrell, PM, Kosorok, MR, Laxova, A, et al., the Wisconsin Cystic Fibrosis Neonatal Screening Study Group. Nutritional benefits of neonatal screening for cystic fibrosis. N Engl J Med 337 (1997), 963–969.
10. 10 Farrell, PM, Li, Z, Kosorok, MR, et al. Bronchopulmonary disease in children with cystic fibrosis after early or delayed diagnosis. Am J Respir Crit Care Med 168 (2003), 1100–1108.
11. 11 Pybus, S, Barben, J, Castellani, C, et al. Updated survey of newborn screening for cystic fibrosis. J Cyst Fibros, 13(suppl 2), 2014, S48 (abstr).
12. 12 Sims, EJ, Clark, A, McCormick, J, et al. Cystic fibrosis diagnosed after 2 months of age leads to worse outcomes and requires more therapy. Pediatrics 119 (2007), 19–28.
13. 13 Mastella, G, Zanolla, L, Castellani, C, et al. Neonatal screening for cystic fibrosis: long-term clinical balance. Pancreatology 1 (2001), 531–537.
14. 14 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 96 (2011), 1118–1123.
15. 15 Simpson, N, Anderson, R, Sassi, F, et al. The cost-effectiveness of neonatal screening for cystic fibrosis: an analysis of alternative scenarios using a decision model. Cost Eff Resour Alloc, 3, 2005, 8.
16. 16 van den Akker-van Marle, ME, Dankert, HM, Verkerk, PH, Dankert-Roelse, JE, Cost-effectiveness of 4 neonatal screening strategies for cystic fibrosis. Pediatrics 118 (2006), 896–905.
17. 17 Sims, EJ, Mugford, M, Clark, A, et al., the UK Cystic Fibrosis Database Steering Committee. Economic implications of newborn screening for cystic fibrosis: a cost of illness retrospective cohort study. Lancet 369 (2007), 1187–1195.
18. 18 van der Ploeg, CP, van den Akker-van Marle, ME, Vernooij-van Langen, AM, et al., the CHOPIN study group. Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data. J Cyst Fibros 14 (2015), 194–202.
19. 19 CLSI. Newborn Screening for Cystic Fibrosis; approved guideline. CLSI document NBS05A, 2011, Clinical and Laboratory Standards Institute, Wayne, PA.
20. 20 Therrell, BL Jr, Hannon, WH, Hoffman, G, Ojodu, J, Farrell, PM, Immunoreactive trypsinogen (IRT) as a biomarker for cystic fibrosis: challenges in newborn dried blood spot screening. Mol Genet Metab 106 (2012), 1–6.
21. 21 Castellani, C, Southern, KW, Brownlee, K, et al. European best practice guidelines for cystic fibrosis neonatal screening. J Cyst Fibros 8 (2009), 153–173.
22. 22 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 102 (1983), 383–387.
23. 23 Kammesheidt, A, Kharrazi, M, Graham, S, et al. Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens - implications for newborn screening. Genet Med 8 (2006), 557–562.
24. 24 Sobczyńska-Tomaszewska, A, Ołtarzewski, M, Czerska, K, et al., the NBS CF working group. Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy. Eur J Hum Genet 21 (2013), 391–396.
25. 25 Southern, KW, Munck, A, Pollitt, R, et al., the ECFS CF Neonatal Screening Working Group. A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros 6 (2007), 57–65.
26. 26 Baker, MW, Atkins, AE, Cordovado, SK, Hendrix, M, Earley, MC, Farrell, PM, Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study. Genet Med 18 (2016), 231–238.
27. 27 Sontag, MK, Wright, D, Beebe, J, Accurso, FJ, Sagel, SD, A new cystic fibrosis newborn screening algorithm: IRT/IRT1 upward arrow/DNA. J Pediatr 155 (2009), 618–622.
28. 28 Kay, DM, Langfelder-Schwind, E, DeCelie-Germana, J, et al., the New York State Cystic Fibrosis Newborn Screening Consortium. Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening. Pediatr Pulmonol 50 (2015), 771–780.
29. 29 Munck, A, Dhondt, JL, Sahler, C, Roussey, M, Implementation of the French nationwide cystic fibrosis newborn screening program. J Pediatr 153 (2008), 228–233 e1.
30. 30 Kloosterboer, M, Hoffman, G, Rock, M, Gershan, W, et al. Clarification of laboratory and clinical variables that influence cystic fibrosis newborn screening with initial analysis of immunoreactive trypsinogen. Pediatrics 123 (2009), e338–e346.
31. 31 Rock, MJ, Mischler, EH, Farrell, PM, Bruns, WT, Hassemer, DJ, Laessig, RH, Immunoreactive trypsinogen screening for cystic fibrosis: characterization of infants with a false-positive screening test. Pediatr Pulmonol 6 (1989), 42–48.
32. 32 Vernooij-van Langen, AM, Loeber, JG, Elvers, B, et al., the CHOPIN Study Group. Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study. Thorax 67 (2012), 289–295.
33. 33 Krulišová, V, Balaščaková, M, Skalická, V, et al. Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA. Eur J Pediatr 171 (2012), 1223–1229.
34. 34 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 50 (2015), 655–664.
35. 35 Sarles, J, Giorgi, R, Berthézène, P, et al. Neonatal screening for cystic fibrosis: comparing the performances of IRT/DNA and IRT/PAP. J Cyst Fibros 13 (2014), 384–390.
36. 36 Wilcken, B, Wiley, V, Sherry, G, Bayliss, U, Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies. J Pediatr 127 (1995), 965–970.
37. 37 Gregg, RG, Wilfond, BS, Farrell, PM, Laxova, A, Hassemer, D, Mischler, EH, Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols. Am J Hum Genet 52 (1993), 616–626.
38. 38 Massie, RJ, Curnow, L, Glazner, J, Armstrong, DS, Francis, I, Lessons learned from 20 years of newborn screening for cystic fibrosis. Med J Aust 196 (2012), 67–70.
39. 39 Castellani, C, Bonizzato, A, Cabrini, G, Mastella, G, Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity. Acta Paediatr 86 (1997), 497–502.
40. 40 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 137 (2000), 214–220.
41. 41 Cohn, JA, Friedman, KJ, Noone, PG, Knowles, MR, Silverman, LM, Jowell, PS, Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 339 (1998), 653–658.
42. 42 McClaren, BJ, Metcalfe, SA, Aitken, M, Massie, RJ, Ukoumunne, OC, Amor, DJ, Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening. Eur J Hum Genet 18 (2010), 1084–1089.
43. 43 Super, M, Schwarz, MJ, Malone, G, Roberts, T, Haworth, A, Dermody, G, Active cascade testing for carriers of cystic fibrosis gene. BMJ 308 (1994), 1462–1467.
44. 44 Lewis, S, Curnow, L, Ross, M, Massie, J, Parental attitudes to the identification of their infants as carriers of cystic fibrosis by newborn screening. J Paediatr Child Health 42 (2006), 533–537.
45. 45 Cavanagh, L, Compton, CJ, Tluczek, A, Brown, RL, Farrell, PM, Long-term evaluation of genetic counseling following false-positive newborn screen for cystic fibrosis. J Genet Couns 19 (2010), 199–210.
46. 46 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 45 (2013), 1160–1167.
47. 47 Castellani, C, Bonizzato, A, Mastella, G, CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test. J Med Genet 34 (1997), 297–301.
48. 48 Castellani, C, Benetazzo, MG, Tamanini, A, Begnini, A, Mastella, G, Pignatti, P, Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in neonatal hypertrypsinaemia with normal sweat test. J Med Genet 38 (2001), 202–205.
49. 49 Borowitz, D, Parad, RB, Sharp, JK, et al., the Cystic Fibrosis Foundation. 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 155:suppl 6 (2009), S106–S116.
50. 50 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 14 (2015), 706–713.
51. 51 Ren, CL, Desai, H, Platt, M, Dixon, M, Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome. Pediatr Pulmonol 46 (2011), 1079–1084.
52. 52 Parad, RB, Comeau, AM, Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm. J Pediatr 147:suppl 3 (2005), S78–S82.
53. 53 Prach, L, Koepke, R, Kharrazi, M, et al., the California Cystic Fibrosis Newborn Screening Consortium. Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. J Mol Diagn 15 (2013), 710–722.
54. 54 Ooi, CY, Castellani, C, Keenan, K, et al. Inconclusive diagnosis of cystic fibrosis after newborn screening. Pediatrics 135 (2015), e1377–e1385.
55. 55 Bombieri, C, Claustres, M, De Boeck, K, et al. Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros 10:suppl 2 (2011), S86–102.
56. 56 Massie, J, Gillam, L, Uncertain diagnosis after newborn screening for cystic fibrosis: an ethics-based approach to a clinical dilemma. Pediatr Pulmonol 49 (2014), 1–7.
57. 57 Strom, CM, Crossley, B, Buller-Buerkle, A, et al. Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis. Genet Med 13 (2011), 166–172.
58. 58 Zlotogora, J, Population programs for the detection of couples at risk for severe monogenic genetic diseases. Hum Genet 126 (2009), 247–253.
59. 59 Massie, J, Petrou, V, Forbes, R, et al. Population-based carrier screening for cystic fibrosis in Victoria: the first three years experience. Aust N Z J Obstet Gynaecol 49 (2009), 484–489.
60. 60 Castellani, C, Picci, L, Tamanini, A, Girardi, P, Rizzotti, P, Assael, BM, Association between carrier screening and incidence of cystic fibrosis. JAMA 302 (2009), 2573–2579.
61. 61 Smyth, AR, Bell, SC, Bojcin, S, et al., the European Cystic Fibrosis Society. European Cystic Fibrosis Society Standards of Care: Best Practice guidelines. J Cyst Fibros 13:suppl 1 (2014), S23–S42.
62. 62 Castellani, C, Picci, L, Tridello, G, et al. Cystic fibrosis carrier screening effects on birth prevalence and newborn screening. Genet Med 18 (2016), 145–151.
63. 63 Boyle, MP, De Boeck, K, A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect. Lancet Respir Med 1 (2013), 158–163.
64. 64 Cheah, E, Venuti, E, McKay, K, Gaskin, K, Cessation of pancreatic enzyme replacement therapy after initiation of therapy with ivacaftor – a case series. J Cyst Fibros, 14(suppl 1), 2015, S51 (abstr).
65. 65 Farrell, PM, Is newborn screening for cystic fibrosis a basic human right?. J Cyst Fibros 7 (2008), 262–265.
66. 66 Wilson, JM, Jungner, YG, Principles and practice of mass screening for disease. Bol Oficina Sanit Panam 65 (1968), 281–393 (in Spanish).
67. 67 Petros, M, Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening?. Genet Med 14 (2012), 129–134.
68. 68 Andermann, A, Blancquaert, I, Beauchamp, S, Déry, V, Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull World Health Organ 86 (2008), 317–319.