Newborn Screening by Tandem Mass Spectrometry for Medium-Chain Acyl-CoA Dehydrogenase Deficiency: A Cost-Effectiveness Analysis

Pediatrics

Volumn 112, Issue 5, 2003, Pages 1005-1015

  Venditti, Laura N ^a   Venditti, Charles P ^a,b,c   Berry, Gerard T ^b   Kaplan, Paige B ^b   Kaye, Edward M ^b   Glick, Henry ^a   Stanley, Charles A ^b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Cost effectiveness; Cost utility; Inborn errors of metabolism; MCADD; Newborn screening

Indexed keywords

MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

ARTICLE; CONFIDENCE INTERVAL; COST EFFECTIVENESS ANALYSIS; COST UTILITY ANALYSIS; ENZYME DEFICIENCY; HEALTH CARE COST; HEALTH STATUS; HUMAN; LIFE EXPECTANCY; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MONTE CARLO METHOD; MORBIDITY; NEWBORN SCREENING; PRIORITY JOURNAL; PROBABILITY; QUALITY ADJUSTED LIFE YEAR; TANDEM MASS SPECTROMETRY;

ACYL-COA DEHYDROGENASE; COHORT STUDIES; COMPUTER SIMULATION; COST-BENEFIT ANALYSIS; FATTY ACIDS; GENETIC SCREENING; HUMANS; INCIDENCE; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MARKOV CHAINS; MASS SPECTROMETRY; MODELS, THEORETICAL; NEONATAL SCREENING; QUALITY-ADJUSTED LIFE YEARS;

EID: 0242300682     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: 10.1542/peds.112.5.1005     Document Type: Article

References (66)

1. American Academy of Pediatrics, Committee on Genetics. Newborn screening fact sheets. Pediatrics. 1989;83:449-464
2. Dionisi-Vici C, Rizzo C, Burlina AB, et al. Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr. 2002;140:321-327
3. Levy HL, Albers S. Genetic screening of newborns. Annu Rev Genomics Hum Genet. 2000;1:139-177
4. Pollitt RJ, Green A, McCabe CJ, et al. Neonatal screening for inborn errors of metabolism: cost, yield, and outcome. Health Technol Assess. 1997;1:i-iv, 1-202
5. Seymour CA, Thomason MJ, Chalmers RA, et al. Newborn screening for inborn errors of metabolism: a systematic review. Health Technol Assess. 1997;1:i-v, 1-98
6. Millington DS, Kodo N, Norwood DL, Roe CR. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis. 1990;13:321-324
7. Levy HL. Newborn screening by tandem mass spectrometry: a new era. Clin Chem. 1998;44:2401-2402
8. Guthrie R. Blood screening for phenylketonuria. JAMA. 1961;178:863
9. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics. 1963; 32:338-343
10. Rashed MS, Ozand PT, Bucknall MP, Little D. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res. 1995;38:324-331
11. Naylor EW, Chace DH. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol. 1999;14(suppl 1):S4-S8
12. Chace DH, Kalas TA, Naylor EW. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu Rev Genomics Hum Genet. 2002;3:17-45
13. Van Hove JL, Zhang W, Kahler SG, et al. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood. Am J Hum Genet. 1993;52:958-966
14. Chace DH, Hillman SL, Van Hove JL, Naylor EW. Rapid diagnosis of MCAD deficiency: quantitatively analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. Clin Chem. 1997;43:2106-2113
15. Ziadeh R, Hoffman EP, Finegold DN, et al. Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res. 1995; 37:675-678
16. Pollitt RJ, Leonard JV. Medium-Chain-Acyl-CoA Dehydrogenase Deficiency. Annual Report. London, UK: Surveillance Unit of the College of Paediatrics and Child Health; 1996:25-26
17. Pourfarzam M, Morris A, Appleton M, Craft A, Bartlett K. Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency. Lancet. 2001;358;1063-1064
18. Andresen BS, Dobrowolski SF, O'Reilly L, et al. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and clarification of a deficiency. Am J Hum Genet. 2001;68:1408-1418
19. Stanley CA, Hale DE, Coates PM, et al. Medium-chain acyl-CoA dehydrogenase (M-CAD) deficiency in children with non-ketotic hypoglycemia and low carnitine levels. Pediatr Res. 1983;17:877-884
20. Stanley CA. New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency. Adv Pediatr. 1987;34:59-88
21. Iafolla AK, Thompson RJ, Roe CR. Medium-chain acyl coA dehydrogenase deficiency: clinical course in 120 affected children. J Pediatr. 1994; 5:409-415
22. Wilcken B, Hammond J, Silink M. Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency. Arch Dis Child. 1994; 70:410-412
23. Roe CR, Millington DS, Maltby DA, Kinnebrew P. Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes. J Pediatr. 1986;108:13-18
24. Bennett MJ, Rinaldo P, Millington DS, Tanaka K, Yokota I, Coates PM. Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling. Pediatr Pathol. 1991;11:889-895
25. Chace DH, DiPerna JC, Mitchell BL, Sgroi B, Hofman LF, Naylor EW. Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem. 2001;47:1166-1182
26. McCandless S, Muenzer J, Chaing SH, Weaver SD, Moore EG, Frazier DM. Tandem mass spectrometry newborn screening for medium-chain acyl-coA dehydrogenase deficiency in North Carolina. Am J Hum Genet. 2000;67(suppl 2):10
27. Sonnenberg FA, Beck JR. Markov models in medical decision making: a practical guide. Med Decis Making. 1993;13:322-338
28. Beck JR, Pauker SG. The Markov process in medical prognosis. Med Decis Making. 1983;3:19-58
29. Weinstein MC, Siegel JE, Gold MR, Kamlet MS, Russell LB, for the Panel on Cost-Effectiveness in Health and Medicine. Recommendations of the Panel on Cost-Effectiveness in Health and Medicine. JAMA. 1996;276: 1253-1258
30. Gold MR, Siegel JE, Russell LB, Weinstein MC. Cost-Effectiveness in Health and Medicine. New York, NY: Oxford, UK; 1996
31. Touma EH, Charpentier C. Medium chain acyl CoA dehydrogenase deficiency. Arch Dis Child. 1992;67:142-145
32. Pollitt RJ, Leonard JV. Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK. Arch Dis Child. 1998;79: 116-119
33. Insinga RP, Laessig RH, Hoffman GL. Newborn screening with tandem mass spectrometry: examining its cost-effectiveness in the Wisconsin Newborn Screening Panel. J Pediatr. 2002;141:524-531
34. American College of Medical Genetics/American Society of Human Genetics Test and Technology Transfer Committee Working Group. Tandem mass spectrometry in newborn screening. Genet Med. 2000;2: 267-269
35. US Census Bureau. Statistical Abstract of the United States. Washington, DC: US Census Bureau; 2000
36. Centers for Disease Control. Economic costs of birth defects and cerebral palsy-United States, 1992. MMWR Morb Mortal Wkly Rep. 1995;44: 694-699
37. Torrance GW. Measurement of health state utilities for economic appraisal. J Health Econ. 1986;5:1-30
38. Weinstein MC, Fineberg HV, eds. Clinical Decision Analysis. Philadelphia, PA: WB Saunders; 1980
39. Earle CC, Chapman RH, Baker CS, et al. Systematic overview of cost-utility assessments in oncology. J Clin Oncol. 2000;18:3302-3317
40. Torrance GW, Feeny D. Utilities and quality-adjusted life years. Int J Technol Assess Health Care. 1989;5:559-575
41. Saigal S, Feeny D, Rosenbaum P, Furlong W, Burrows E, Stoskopf B. Self-perceived health status and health-related quality of life of extremely low-birth-weight infants at adolescence. JAMA. 1996;276: 453-459
42. Saigal S, Stoskopf BL, Feeny D, et al. Differences in preferences for neonatal outcomes among health care professionals, parents, and adolescents. JAMA. 1999;281:1991-1997
43. Kitchen WH, Bowman E, Callanan C. The cost of improving the outcome for infants of birthweight 500-999g in Victoria: the Victorian Infant Collaborative Study Group. J Paediatr Child Health. 1993;29:56-62
44. Victorian Infant Collaborative Study Group. Economic outcome for intensive care of infants of birthweight 500-999g born in Victoria in the post surfactant era. J Paediatr Child Health. 1997;33:202-208
45. Mahadevia PJ, Fleisher LA, Frick KD, Eng J, Goodman SN, Powe NR. Lung cancer screening with helical computed tomography in older adult smokers. JAMA. 2003;289:313-358
46. Hunink MG, Bult JR, de Vries J, Weinstein MC. Uncertainty in decision models analyzing cost-effectiveness: the joint distribution of incremental costs and effectiveness evaluated with a nonparametric bootstrap method. Med Decis Making. 1998;18:337-346
47. Laupacis A, Feeny D, Detsky AS, Tugwell PX. How attractive does a new technology have to be to warrant adoption and utilization? Tentative guidelines for using clinical and economic evaluations. Can Med Assoc J. 1992;146:473
48. Boyle MH, Torrance GW, Sinclair JC, Horwood SP. Economic evaluation of neonatal intensive care of very-low-birth-weight infants. N Engl J Med. 1983;308:1330-1337
49. Bush JW, Chen MM, Patrick DL. Health status index in cost effectiveness analysis: analysis of PKU program. In: Berg RL, ed. Health Status Indexes. New York, NY: Hospital and Educational Trust; 1973:172-209
50. Panepinto JA, Magid D, Rewers MJ, Lane PA. Universal versus targeted screening of infants for sickle cell disease: a cost-effectiveness analysis. J Pediatr. 2000;136:201-208
51. Tsevat J, Wong JB, Pauker SG, Steinberg MH. Neonatal screening for sickle-cell disease: a cost-effectiveness analysis. J Pediatr. 1991;118: 546-554
52. Massachusetts Department of Public Health. Cost-benefit analysis of newborn screening for metabolic disorders. N Engl J Med. 1974;291: 1414-1416
53. Alm L, Larsson A, Rosenquist U. Health economic analysis of the Swedish neonatal metabolic screening programme. A method of optimizing routines. Med Decis Making. 1982;2:33-45
54. Barden HS, Kessel R, Schuett VE. The costs and benefits of screening for PKU in Wisconsin. Soc Biol. 1984;31:1-17
55. Cockburn F, Clark BJ, Byrne A, et al. Maternal phenylketonuria-diet, dangers, and dilemmas. Int Pediatr. 1992;7:67-74
56. Dhondt JL, Farriaux JP, Sailly JC, Lebrun T. Economic evaluation of cost-benefit ratio of neonatal screening procedure for phenylketonuria and hypothyroidism. J Inherit Metab Dis. 1991;14:633-639
57. Hisashige A. Health economic analysis of the neonatal screening program in Japan. Int J Technol Assess Health Care. 1994;10:382-391
58. Komrower GM, Sardharwalla IB, Fowler B, Bridge C. The Manchester regional screening programme: a 10-year exercise in patient and family care. Br Med J. 1979;2:635-638
59. Kemper AR, Downs SM. A cost-effectiveness analysis of newborn hearing screening strategies. Arch Pediatr Adolesc Med. 2000;154:484-488
60. Keren R, Helfand M, Homer C, McPhillips H, Lieu TA. Projected cost-effectiveness of statewide universal newborn hearing screening. Pediatrics. 2002;110:855-864
61. Cheng AK, Rubin HR, Powe NR, Mellon NK, Francis HW, Niparko JK. Cost-utility analysis of the cochlear implant in children. JAMA. 2000; 284:850-856
62. Schoen EJ, Baker JC, Colby CJ, To TT. Cost-benefit analysis of universal tandem mass spectrometry for newborn screening. Pediatrics. 2002;110: 781-786
63. Lord J, Thomason MJ, Littlejohns P, et al. Secondary analysis of economic data: a review of cost-benefit studies of neonatal screening for phenylketonuria. J Epidemiol Community Health. 1999;53:179-186
64. Raymond K, Bale AE, Barnes CA, Rinaldo P. Medium-chain acyl-CoA dehydrogenase deficiency: sudden and unexpected death of a 45 year old woman. Genet Med. 1999;1:293-294
65. Roe C, Coates PM. Mitochondrial fatty acid oxidation disorders. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease. New York, NY: McGraw Hill; 1997:1501-1534
66. Wilcken B, Wiley V, Hammond J, Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med. 2003;348:2304-2312