Cystic Fibrosis Diagnosis and Newborn Screening

Pediatric Clinics of North America

Volumn 63, Issue 4, 2016, Pages 599-615

  Rosenfeld, Margaret ^a   Sontag, Marci K ^b   Ren, Clement L ^c  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b Food Science and Human Nutrition   (United States)

^c INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Cystic fibrosis; Diagnosis; Mutation; Newborn screening; Sweat chloride

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE; EARLY DIAGNOSIS; GENETIC SCREENING; HUMAN; NEWBORN SCREENING; PATIENT IDENTIFICATION; PRENATAL SCREENING; REVIEW; SCREENING TEST; SYMPTOM ASSESSMENT; TOTAL QUALITY MANAGEMENT; ADULT; CHILD; GENETICS; MUTATION; NEWBORN; PRESCHOOL CHILD; PROCEDURES;

ADULT; CHILD; CHILD, PRESCHOOL; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HUMANS; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING;

EID: 84985914241     PISSN: 00313955     EISSN: 15578240     Source Type: Journal    
DOI: 10.1016/j.pcl.2016.04.004     Document Type: Review

References (82)

1. 1 Cystic Fibrosis Foundation, 2013 annual data report to the center directors. 2014, Cystic Fibrosis Foundation, Bethesda (MD).
2. 2 Rosenstein, B.J., Cutting, G.R., The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 132:4 (1998), 589–595.
3. 3 Farrell, P.M., Rosenstein, B.J., White, T.B., et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: cystic fibrosis foundation consensus report. J Pediatr 153:2 (2008), S4–S14.
4. 4 De Boeck, K., Wilschanski, M., Castellani, C., et al. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 61:7 (2006), 627–635.
5. 5 Legrys, V.A., Applequist, R., Briscoe, D.R., et al. Sweat testing: sample collection and quantitative chloride analysis; approved guideline. 3rd edition, 2009, Clinical and Laboratory Standards Institute, Wayne (PA).
6. 6 Borowitz, D., Robinson, K.A., Rosenfeld, M., et al. Cystic fibrosis foundation evidence-based guidelines for management of infants with cystic fibrosis. J Pediatr 155:6 Suppl (2009), S73–S93.
7. 7 Advisory committee on heritable disorders in newborns and children recommended uniform screening panel 2013. Available at: http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendedpanel/. Accessed January 13, 2016.
8. 8 Reardon, M.C., Hammond, K.B., Accurso, F.J., et al. Nutritional deficits exist before 2 months of age in some infants with cystic fibrosis identified by screening test. J Pediatr 105:2 (1984), 271–274.
9. 9 Bronstein, M.N., Sokol, R.J., Abman, S.H., et al. Pancreatic insufficiency, growth, and nutrition in infants identified by newborn screening as having cystic fibrosis. J Pediatr 120:4 Pt 1 (1992), 533–540.
10. 10 Sokol, R.J., Reardon, M.C., Accurso, F.J., et al. Fat-soluble-vitamin status during the first year of life in infants with cystic fibrosis identified by screening of newborns. Am J Clin Nutr 50:5 (1989), 1064–1071.
11. 11 Gaskin, K., Waters, D., Allen, J., et al. Nutritional status of infants with cystic fibrosis. Am J Clin Nutr 56:5 (1992), 955–957.
12. 12 Gaskin, K., Waters, D., Dorney, S., et al. Assessment of pancreatic function in screened infants with cystic fibrosis. Pediatr Pulmonol Suppl 7 (1991), 69–71.
13. 13 Waters, D.L., Dorney, S.F., Gaskin, K.J., et al. Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program. N Engl J Med 322:5 (1990), 303–308.
14. 14 Khan, T.Z., Wagener, J.S., Bost, T., et al. Early pulmonary inflammation in infants with cystic fibrosis. Am J Respir Crit Care Med 151:4 (1995), 1075–1082.
15. 15 Armstrong, D.S., Grimwood, K., Carlin, J.B., et al. Lower airway inflammation in infants and young children with cystic fibrosis. Am J Respir Crit Care Med 156:4 Pt 1 (1997), 1197–1204.
16. 16 Abman, S.H., Ogle, J.W., Harbeck, R.J., et al. Early bacteriologic, immunologic, and clinical courses of young infants with cystic fibrosis identified by neonatal screening. J Pediatr 119:2 (1991), 211–217.
17. 17 Wilcken, B., Brown, A.R., Urwin, R., et al. Cystic fibrosis screening by dried blood spot trypsin assay: results in 75,000 newborn infants. J Pediatr 102:3 (1983), 383–387.
18. 18 Farrell, P.M., Li, Z., Kosorok, M.R., et al. Bronchopulmonary disease in children with cystic fibrosis after early or delayed diagnosis. Am J Respir Crit Care Med 168:9 (2003), 1100–1108.
19. 19 Grosse, S.D., Boyle, C.A., Botkin, J.R., et al. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep 53:RR–13 (2004), 1–36.
20. 20 Farrell, P.M., Kosorok, M.R., Rock, M.J., et al. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Wisconsin Cystic Fibrosis Neonatal Screening Study Group. Pediatrics 107:1 (2001), 1–13.
21. 21 Waters, D.L., Wilcken, B., Irwing, L., et al. Clinical outcomes of newborn screening for cystic fibrosis. Arch Dis Child Fetal Neonatal Ed 80:1 (1999), F1–F7.
22. 22 Accurso, F.J., Sontag, M.K., Wagener, J.S., Complications associated with symptomatic diagnosis in infants with cystic fibrosis. J Pediatr 147:3 Suppl (2005), S37–S41.
23. 23 Koscik, R.L., Farrell, P.M., Kosorok, M.R., et al. Cognitive function of children with cystic fibrosis: deleterious effect of early malnutrition. Pediatrics 113:6 (2004), 1549–1558.
24. 24 Lai, H.J., Cheng, Y., Farrell, P.M., The survival advantage of patients with cystic fibrosis diagnosed through neonatal screening: evidence from the United States Cystic Fibrosis Foundation registry data. J Pediatr 147:3 Suppl (2005), S57–S63.
25. 25 Grosse, S.D., Rosenfeld, M., Devine, O.J., et al. Potential impact of newborn screening for cystic fibrosis on child survival: a systematic review and analysis. J Pediatr 149:3 (2006), 362–366.
26. 26 Southern, K.W., Merelle, M.M., Dankert-Roelse, J.E., et al. Newborn screening for cystic fibrosis. Cochrane Database Syst Rev(1), 2009 CD001402.
27. 27 Gonska, T., Ratjen, F., Newborn screening for cystic fibrosis. Expert Rev Respir Med 9:5 (2015), 619–631.
28. 28 Wagener, J.S., Zemanick, E.T., Sontag, M.K., Newborn screening for cystic fibrosis. Curr Opin Pediatr 24:3 (2012), 329–335.
29. 29 Leung, D.B., Heltshe, S., Kloster, M., et al. CF infant growth and pulmonary status in the first year of life: the bonus study. Pediatr Pulmonol Suppl, 50(S41), 2015.
30. 30 Saiman, L., Marshall, B.C., Mayer-Hamblett, N., et al. Azithromycin in patients with cystic fibrosis chronically infected with Pseudomonas aeruginosa: a randomized controlled trial. JAMA 290:13 (2003), 1749–1756.
31. 31 Mayer-Hamblett, N., Rosenfeld, M., Treggiari, M.M., et al. Standard care versus protocol based therapy for new onset Pseudomonas aeruginosa in cystic fibrosis. Pediatr Pulmonol 48:10 (2013), 943–953.
32. 32 Fuchs, H.J., Borowitz, D.S., Christiansen, D.H., et al. Effect of aerosolized recombinant human DNase on exacerbations of respiratory symptoms and on pulmonary function in patients with cystic fibrosis. The Pulmozyme Study Group. N Engl J Med 331:10 (1994), 637–642.
33. 33 Accurso, F.J., Rowe, S.M., Clancy, J.P., et al. Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. N Engl J Med 363:21 (2010), 1991–2003.
34. 34 Wainwright, C.E., Elborn, J.S., Ramsey, B.W., Lumacaftor-ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR. N Engl J Med 373:18 (2015), 1783–1784.
35. 35 Davies, J.C., The future of CFTR modulating therapies for cystic fibrosis. Curr Opin Pulm Med 21:6 (2015), 579–584.
36. 36 Wilson, J.M.G., Jungner, G., Principles and practice of screening for disease. 1968, World Health Organization, Geneva (Switzerland).
37. 37 Kemper, A.R., Green, N.S., Calonge, N., et al. Decision-making process for conditions nominated to the recommended uniform screening panel: statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. Genet Med 16:2 (2014), 183–187.
38. 38 Petros, M., Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening?. Genet Med 14:1 (2012), 129–134.
39. 39 Ross, L.F., Saal, H.M., David, K.L., et al. Technical report: ethical and policy issues in genetic testing and screening of children. Genet Med 15:3 (2013), 234–245.
40. 40 NewSTEPs: newborn screening technical assistance and evaluation program, 2014, Association of Public Health Laboratories, Silver Spring (Maryland) cited 1901 1/5/15 AD. Available at: www.newsteps.org Accessed January 16, 2016.
41. 41 Crossley, J.R., Elliott, R.B., Smith, P.A., Dried-blood spot screening for cystic fibrosis in the newborn. Lancet 1:8114 (1979), 472–474.
42. 42 Crossley, J.R., Smith, P.A., Edgar, B.W., et al. Neonatal screening for cystic fibrosis, using immunoreactive trypsin assay in dried blood spots. Clin Chim Acta 113:2 (1981), 111–121.
43. 43 Heeley, A.F., Heeley, M.E., King, D.N., et al. Screening for cystic fibrosis by died blood spot trypsin assay. Arch Dis Child 57:1 (1982), 18–21.
44. 44 Hammond, K.B., Abman, S.H., Sokol, R.J., et al. Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations. N Engl J Med 325:11 (1991), 769–774.
45. 45 Newborn screening for cystic fibrosis: a paradigm for public health genetics policy development. Proceedings of a 1997 workshop. MMWR Recomm Rep 46:RR–16 (1997), 1–24.
46. 46 Newborn screening for cystic fibrosis; approved guideline, NBS05-A, 2011, Clinical Laboratory Standards Institute (CLSI), Wayne (PA).
47. 47 Comeau, A.M., Accurso, F.J., White, T.B., et al. Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report. Pediatrics 119:2 (2007), e495–e518.
48. 48 Rock, M.J., Mischler, E.H., Farrell, P.M., et al. Immunoreactive trypsinogen screening for cystic fibrosis: characterization of infants with a false-positive screening test. Pediatr Pulmonol 6:1 (1989), 42–48.
49. 49 Comeau, A.M., Parad, R.B., Dorkin, H.L., et al. Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. Pediatrics 113:6 (2004), 1573–1581.
50. 50 Farrell, P.M., Aronson, R.A., Hoffman, G., et al. Newborn screening for cystic fibrosis in Wisconsin: first application of population-based molecular genetics testing. Wis Med J 93:8 (1994), 415–421.
51. 51 Sontag, M.K., Wright, D., Beebe, J., et al. A new cystic fibrosis newborn screening algorithm: IRT/IRT/DNA. J Pediatr 155:5 (2009), 618–622.
52. 52 Kharrazi, M., Yang, J., Bishop, T., et al. Newborn screening for cystic fibrosis in California. Pediatrics 136:6 (2015), 1062–1072.
53. 53 Brennan, M.L., Schrijver, I., Cystic fibrosis: a review of associated phenotypes, use of molecular diagnostic approaches, genetic characteristics, progress, and dilemmas. J Mol Diagn 18:1 (2016), 3–14.
54. 54 Kay, D.M., Langfelder-Schwind, E., DeCelie-Germana, J., et al. Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening. Pediatr Pulmonol 50:8 (2015), 771–780.
55. 55 McColley, S.A., Michelson, P., Petren, K., et al. A state level registry report for assessment of cystic fibrosis newborn screening programs. Pediatr Pulmonol, 49(S38), 2014, S383.
56. 56 Castellani, C., Macek, M. Jr., Cassiman, J.J., et al. Benchmarks for cystic fibrosis carrier screening: a European consensus document. J Cyst Fibros 9:3 (2010), 165–178.
57. 57 Lebo, R.V., Grody, W.W., Testing and reporting ACMG cystic fibrosis mutation panel results. Genet Test 11:1 (2007), 11–31.
58. 58 Watson, M.S., Cutting, G.R., Desnick, R.J., et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 6:5 (2004), 387–391.
59. 59 Borowitz, D., Parad, R.B., 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 155:6 Suppl (2009), S106–S116.
60. 60 Munck, A., Mayell, S.J., 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 14:6 (2015), 706–713.
61. 61 Mayell, S.J., 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 8:1 (2009), 71–78.
62. 62 Parad, R.B., Comeau, A.M., Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm. J Pediatr 147:3 Suppl (2005), S78–S82.
63. 63 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 39:5 (2005), 440–446.
64. 64 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 72:1 (2007), 39–46.
65. 65 Roussey, M., Le Bihannic, A., Scotet, V., et al. Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations. J Inherit Metab Dis, 30(4), 2007, 613.
66. 66 Ren, C.L., Desai, H., Platt, M., et al. Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome. Pediatr Pulmonol 46:11 (2011), 1079–1084.
67. 67 Groves, T., Robinson, P., Wiley, V., et al. Long-term outcomes of children with intermediate sweat chloride values in infancy. J Pediatr 166:6 (2015), 1469–1474.e1–3.
68. 68 Ooi, C.Y., Castellani, C., Keenan, K., et al. Inconclusive diagnosis of cystic fibrosis after newborn screening. Pediatrics 135:6 (2015), e1377–e1385.
69. 69 Ren, C.L., Fink, A.K., Petren, K., et al. Outcomes of infants with indeterminate diagnosis detected by cystic fibrosis newborn screening. Pediatrics 135:6 (2015), e1386–e1392.
70. 70 Levy, H., Nugent, M., Schneck, K., et al. Refining the continuum of CFTR-associated disorders in the era of newborn screening. Clin Genet, 2015, 10.1111/cge.12711.
71. 71 Sermet-Gaudelus, I., Girodon, E., Roussel, D., et al. Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis. Thorax 65:6 (2010), 539–544.
72. 72 O'Sullivan, B.P., Zwerdling, R.G., Dorkin, H.L., et al. Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/R117H-7T genotype. Pediatrics 118:3 (2006), 1260–1265.
73. 73 Ren, C.L., Pulmonary manifestations in deltaF508/R117H. Pediatrics, 119(3), 2007, 647 [author reply: 8].
74. 74 Sosnay, P.R., Siklosi, K.R., Van Goor, F., et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet 45:10 (2013), 1160–1167.
75. 75 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 46:11 (2009), 752–758.
76. 76 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 15:5 (2013), 710–722.
77. 77 Salinas, D.B., Sosnay, P.R., Azen, C., et al. Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants. J Cyst Fibros 14:6 (2015), 714–719.
78. 78 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–S102.
79. 79 Ramsey, K.A., Ranganathan, S., Park, J., et al. Early respiratory infection is associated with reduced spirometry in children with cystic fibrosis. Am J Respir Crit Care Med 190:10 (2014), 1111–1116.
80. 80 Hoo, A.F., Thia, L.P., Nguyen, T.T., et al. Lung function is abnormal in 3-month-old infants with cystic fibrosis diagnosed by newborn screening. Thorax 67:10 (2012), 874–881.
81. 81 Nguyen, T.T., Thia, L.P., Hoo, A.F., et al. Evolution of lung function during the first year of life in newborn screened cystic fibrosis infants. Thorax 69:10 (2014), 910–917.
82. 82 Mott, L.S., Park, J., Murray, C.P., et al. Progression of early structural lung disease in young children with cystic fibrosis assessed using CT. Thorax 67:6 (2012), 509–516.