{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T05:27:41Z","timestamp":1774330061608,"version":"3.50.1"},"reference-count":39,"publisher":"American Academy of Pediatrics (AAP)","issue":"Supplement_3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,5,1]]},"abstract":"<jats:p>BACKGROUND. Inborn errors of metabolism are a significant cause of morbidity and death among children. Inconsistencies in how individual states arrive at screening strategies, however, lead to marked variations in testing between states.<\/jats:p><jats:p>OBJECTIVE. To determine the cost-effectiveness of each component test of a multitest newborn screening program, including screening for phenylketonuria, congenital adrenal hyperplasia, congenital hypothyroidism, biotinidase deficiency, maple syrup urine disease, galactosemia, homocystinuria, and medium-chain acyl-CoA dehydrogenase deficiency.<\/jats:p><jats:p>METHODS. A decision model was used, with cohort studies, government reports, secondary analyses, and other sources. Discounted costs, quality-adjusted life-years (QALYs), and incremental cost-effectiveness ratios were measured.<\/jats:p><jats:p>RESULTS. All except 2 screening tests dominated the \u201cno-test\u201d strategy. The 2 exceptions were screening for congenital adrenal hyperplasia, which cost slightly more than $20000 per QALY gained, and screening for galactosemia, which cost $94000 per QALY gained. The screening test with the lowest expected cost was tandem mass spectrometry. The results found in our base-case analysis were stable across variations in nearly all variables. In instances in which changes in risks, sequelae, costs, or utilities did affect our results, the variation from base-case estimates was quite large.<\/jats:p><jats:p>CONCLUSIONS. Newborn screening seems to be one of the rare health care interventions that is beneficial to patients and, in many cases, cost saving. Over the long term, funding comprehensive newborn screening programs is likely to save money for society.<\/jats:p>","DOI":"10.1542\/peds.2005-2633h","type":"journal-article","created":{"date-parts":[[2017,1,26]],"date-time":"2017-01-26T18:31:21Z","timestamp":1485455481000},"page":"S287-S295","source":"Crossref","is-referenced-by-count":112,"title":["Comprehensive Cost-Utility Analysis of Newborn Screening Strategies"],"prefix":"10.1542","volume":"117","author":[{"given":"Aaron E.","family":"Carroll","sequence":"first","affiliation":[{"name":"Children's Health Services Research, Indiana University School of Medicine, Indianapolis, Indiana"},{"name":"Regenstrief Institute for Health Care, Indianapolis, Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen M.","family":"Downs","sequence":"additional","affiliation":[{"name":"Regenstrief Institute for Health Care, Indianapolis, Indiana"},{"name":"Regenstrief Institute for Health Care, Indianapolis, Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2006,5,1]]},"reference":[{"key":"2021120822344989700_R1","doi-asserted-by":"crossref","unstructured":"Venditti LN, Venditti CP, Berry GT, et al. Newborn screening by tandem mass spectrometry for medium-chain acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis. Pediatrics.\u20082003;112:1005\u20131015","DOI":"10.1542\/peds.112.5.1005"},{"key":"2021120822344989700_R2","doi-asserted-by":"crossref","unstructured":"American Academy of Pediatrics, Committee on Genetics. Newborn screening fact sheets. Pediatrics.\u20081989;83:449\u2013464","DOI":"10.1542\/peds.83.3.449"},{"key":"2021120822344989700_R3","doi-asserted-by":"crossref","unstructured":"Levy HL, Albers S. Genetic screening of newborns. Annu Rev Genomics Hum Genet.\u20082000;1:139\u2013177","DOI":"10.1146\/annurev.genom.1.1.139"},{"key":"2021120822344989700_R4","doi-asserted-by":"crossref","unstructured":"Waisbren SE, Levy HL. Expanded screening of newborns for genetic disorders. JAMA.\u20082004;291:820\u2013821","DOI":"10.1001\/jama.291.7.820-c"},{"key":"2021120822344989700_R5","doi-asserted-by":"crossref","unstructured":"Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics.\u20081963;32:338\u2013343","DOI":"10.1542\/peds.32.3.338"},{"key":"2021120822344989700_R6","unstructured":"Centers for Disease Control and Prevention. Using tandem mass spectrometry for metabolic disease screening among newborns. MMWR Morb Mortal Wkly Rep.\u20082001;50:1\u201322. Available at: www.cdc.gov\/mmwr\/preview\/mmwrhtml\/rr5003a1.htm. Accessed May 13, 2004"},{"key":"2021120822344989700_R7","unstructured":"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.\u20082000;2:267\u2013269"},{"key":"2021120822344989700_R8","doi-asserted-by":"crossref","unstructured":"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.\u20081999;14(suppl 1):S4\u2013S8","DOI":"10.1177\/0883073899014001021"},{"key":"2021120822344989700_R9","doi-asserted-by":"crossref","unstructured":"Insinga RP, Laessig RH, Hoffman GL. Newborn screening with tandem mass spectrometry: examining its cost-effectiveness in the Wisconsin Newborn Screening Panel. J Pediatr.\u20082002;141:524\u2013531","DOI":"10.1067\/mpd.2002.128116"},{"key":"2021120822344989700_R10","doi-asserted-by":"crossref","unstructured":"Schoen EJ, Baker JC, Colby CJ, To TT. Cost-benefit analysis of universal tandem mass spectrometry for newborn screening. Pediatrics.\u20082002;110:781\u2013786","DOI":"10.1542\/peds.110.4.781"},{"key":"2021120822344989700_R11","doi-asserted-by":"crossref","unstructured":"Wood JC, Magera MJ, Rinaldo P, Seashore MR, Strauss AW, Friedman A. Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card. Pediatrics.\u20082001;108(1). Available at: www.pediatrics.org\/cgi\/content\/full\/108\/1\/e19","DOI":"10.1542\/peds.108.1.e19"},{"key":"2021120822344989700_R12","doi-asserted-by":"crossref","unstructured":"Waisbren SE, Albers S, Amato S, et al. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA.\u20082003;290:2564\u20132572","DOI":"10.1001\/jama.290.19.2564"},{"key":"2021120822344989700_R13","doi-asserted-by":"crossref","unstructured":"Kwon C, Farrell PM. The magnitude and challenge of false-positive newborn screening test results. Arch Pediatr Adolesc Med.\u20082000;154:714\u2013718","DOI":"10.1001\/archpedi.154.7.714"},{"key":"2021120822344989700_R14","doi-asserted-by":"crossref","unstructured":"Keren R, Helfand M, Homer C, McPhillips H, Lieu TA. Projected cost-effectiveness of statewide universal newborn hearing screening. Pediatrics.\u20082002;110:855\u2013864","DOI":"10.1542\/peds.110.5.855"},{"key":"2021120822344989700_R15","doi-asserted-by":"crossref","unstructured":"Panepinto JA, Magid D, Rewers MJ, Lane PA. Universal versus targeted screening of infants for sickle cell disease: a cost-effectiveness analysis. J Pediatr.\u20082000;136:201\u2013208","DOI":"10.1016\/S0022-3476(00)70102-8"},{"key":"2021120822344989700_R16","doi-asserted-by":"crossref","unstructured":"Jensen UG, Brandt NJ, Christensen E, Skovby F, Norgaard-Pedersen B, Simonsen H. Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study. Clin Chem.\u20082001;47:1364\u20131372","DOI":"10.1093\/clinchem\/47.8.1364"},{"key":"2021120822344989700_R17","doi-asserted-by":"crossref","unstructured":"Weinstein MC, Siegel JE, Gold MR, Kamlet MS, Russell LB. Recommendations of the Panel on Cost-Effectiveness in Health and Medicine. JAMA.\u20081996;276:1253\u20131258","DOI":"10.1001\/jama.276.15.1253"},{"key":"2021120822344989700_R18","unstructured":"National Newborn Screening and Genetics Resource Center. National Newborn Screening Report\u20142000. Austin, TX: National Newborn Screening and Genetics Resource Center; 2003. Available at: http:\/\/genes-r-us.uthscsa.edu\/resources\/newborn\/00chapters.html. Accessed June 3, 2004"},{"key":"2021120822344989700_R19","doi-asserted-by":"crossref","unstructured":"American Academy of Pediatrics, Committee on Genetics. Newborn screening fact sheets. Pediatrics.\u20081996;98:473\u2013501","DOI":"10.1542\/peds.98.3.473"},{"key":"2021120822344989700_R20","unstructured":"National Newborn Screening and Genetics Resource Center. Homocystinuria. In: National Newborn Screening Report\u20142000. Austin, TX: National Newborn Screening and Genetics Resource Center; 2003:1\u201311. Available at: http:\/\/genes-r-us.uthscsa.edu\/resources\/newborn\/00\/ch7_complete.pdf. Accessed June 23, 2004"},{"key":"2021120822344989700_R21","unstructured":"Washington State Department of Health. Least Burden and Cost Benefit Analysis, Newborn Screening for Metabolic Disorders, WAC 246-650; August 12, 2003. Available at: www.sboh.wa.gov\/Meetings\/Meetings_2003\/2003-10_15\/documents\/Tab09-NBS_analysis.pdf. Accessed June 23, 2004"},{"key":"2021120822344989700_R22","doi-asserted-by":"crossref","unstructured":"Cruysberg JR, Boers GH, Trijbels JM, Deutman AF. Delay in diagnosis of homocystinuria: retrospective study of consecutive patients. BMJ.\u20081996;313:1037\u20131040","DOI":"10.1136\/bmj.313.7064.1037"},{"key":"2021120822344989700_R23","doi-asserted-by":"crossref","unstructured":"Naughten ER, Jenkins J, Francis DE, Leonard JV. Outcome of maple syrup urine disease. Arch Dis Child.\u20081982;57:918\u2013921","DOI":"10.1136\/adc.57.12.918"},{"key":"2021120822344989700_R24","unstructured":"Scriver CR. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. 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Arch Dis Child.\u20081998;79:116\u2013119","DOI":"10.1136\/adc.79.2.116"},{"key":"2021120822344989700_R29","doi-asserted-by":"crossref","unstructured":"Arias E, Smith BL. Deaths: preliminary data for 2001. Natl Vital Stat Rep.\u20082003;51:1\u201344","DOI":"10.1037\/e566622006-001"},{"key":"2021120822344989700_R30","doi-asserted-by":"crossref","unstructured":"Bittles AH, Petterson BA, Sullivan SG, Hussain R, Glasson EJ, Montgomery PD. The influence of intellectual disability on life expectancy. J Gerontol A Biol Sci Med Sci.\u20082002;57:M470\u2013M472","DOI":"10.1093\/gerona\/57.7.M470"},{"key":"2021120822344989700_R31","unstructured":"Bennett JE, Sumner W II, Downs SM, Jaffe DM. Parents' utilities for outcomes of occult bacteremia. Arch Pediatr Adolesc Med.\u20082000;154:43\u201348"},{"key":"2021120822344989700_R32","doi-asserted-by":"crossref","unstructured":"Sharma S, Brown GC, Brown MM, et al. Converting visual acuity to utilities. Can J Ophthalmol.\u20082000;35:267\u2013272","DOI":"10.1016\/S0008-4182(00)80077-0"},{"key":"2021120822344989700_R33","unstructured":"PriceWaterhouseCoopers. Newborn Screening Programs: An Overview of Cost and Financing. New York, NY: PriceWaterhouseCoopers; 2002. Available at: www.marchofdimes.com\/files\/Final_PWC_NBS_Report2.pdf. Accessed June 3, 2004"},{"key":"2021120822344989700_R34","unstructured":"US Congress, Office of Technology Assessment. Data and methods used in OTA's cost-effectiveness analysis of strategies for newborn screening. In: Healthy Children: Investing in the Future. Washington, DC: US Government Printing Office; 1988:236\u2013241. Publication OTA-H-345. Available at: www.wws.princeton.edu\/cgi-bin\/byteserv.prl\/\u223cota\/disk2\/1988\/8819\/881919.PDF. Accessed June 3, 2004"},{"key":"2021120822344989700_R35","unstructured":"Centers for Disease Control and Prevention. 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