The context and approach for the California newborn screening short- and long-term follow-up data system: Preliminary findings

Genetics in Medicine

Volumn 12, Issue 12 SUPPL, 2010, Pages

  Feuchtbaum, Lisa ^a   Dowray, Sunaina ^b   Lorey, Fred ^a  

^a CALIFORNIA DEPARTMENT OF PUBLIC HEALTH   (United States)

^b and Children Program   (United States)

Author keywords

follow up; metabolic disorders; newborn screening; surveillance

Indexed keywords

ARTICLE; FOLLOW UP; HEALTH CARE SYSTEM; HUMAN; INFORMATION PROCESSING; MEDICAL INFORMATION SYSTEM; NEWBORN SCREENING; UNITED STATES;

EID: 78650769533     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181fe5d66     Document Type: Article

References (24)

1. Feuchtbaum L, Lorey F, Faulkner L, et al. California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry. Pediatrics 2006;117(5 Pt 2):S261-S269.
2. Rinaldo P, Zafari S, Tortorelli S, Matern D. Making the case for objective performance metrics in newborn screening by tandem mass spectrometry. Ment Retard Dev Disabil Res Rev 2006;12:255-261.
3. Wiley V, Carpenter K, Bayliss U, Wilcken B. Newborn screening-is it really that simple? Southeast Asian J Trop Med Public Health. 2003; 34(suppl 3) 107-110.
4. Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, Hoffmann GF. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 2003;111(6 Pt 1):1399-1406.
5. Loeber G, Webster D, Aznarez A. Quality evaluation of newborn screening programs. Acta Paediatr Suppl 1999;88:3-6.
6. Botkin JR, Anderson R, Staes C, Longo N. Developing a National Registry for conditions identifiable through newborn screening. Genet Med 2009;11: 176-182.
7. Hinman AR, Mann MY, Singh RH; NDBS Business Process Analysis Workgroup. Newborn dried bloodspot screening: mapping the clinical and public health components and activities. Genet Med 2009;11:418-424.
8. Kemper AR, Boyle CA, Aceves J, et al. Long-term follow-up after diagnosis resulting from newborn screening: statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Genet Med 2008;10:259-261. (Pubitemid 351544127)
9. Liebl B, Nennstiel-Ratzel U, Roscher A, von Kries R. Data required for the evaluation of newborn screening programmes. Eur J Pediatr 2003; 162(suppl 1):S57-S61.
10. Hoff T, Hoyt A. Practices and perceptions of long-term follow-up among state newborn screening programs. Pediatrics 2006;117:1922-1929. (Pubitemid 46071235)
11. Hoff T. Long-term follow-up culture in state newborn screening programs. Genet Med 2008;10:396-403.
12. Hoff T, Ayoob M, Therrell BL. Long-term follow-up data collection and use in state newborn screening programs. Arch Pediatr Adolesc Med 2007;161: 994-1000.
13. Wilcken B, Haas M, Joy P, et al. Expanded newborn screening: outcome in screened and unscreened patients at age 6 years. Pediatrics 2009;124:e2411- e2418.
14. Puryear M, Weissman G, Watson M, Mann M, Strickland B, van Dyck PC. The regional genetic and newborn screening service collaboratives: the first two years. Ment Retard Dev Disabil Res Rev 2006;12:288-292.
15. Centers for Disease Control and Prevention (CDC). Impact of expanded newborn screening- United States, 2006. MMWR Morb Mortal Wkly Rep 2008;57:1012-1015.
16. SAS Institute [computer program] version 9.1. Cary, NC: SAS Institute
17. Grosse SD, Khoury MJ, Greene CL, Crider KS, Pollitt RJ. The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update. Genet Med 2006;8:205-212.
18. Iafolla AK, Thompson RJ Jr, Roe CR. Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. J Pediatr 1994;124:409-415.
19. James PM, Levy HL. The clinical aspects of newborn screening: importance of newborn screening follow-up. Ment Retard Dev Disabil Res Rev 2006; 12:246-254.
20. 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.
21. Cederbaum SD. SIDS and disorders of fatty acid oxidation: where do we go from here? J Pediatr 1998;132:913-914.
22. AMCHP. Newborn screening long-term follow-up assessment. Washington, DC: Association of Maternal and Child Health Programs; 2007.
23. Holbrook R, Staes C, Longo N, Botkin J, Anderson R, Mitchell J. Development of requirements and a pilot registry for long-term follow-up of children with heritable conditions. AMIA Annu Symp Proc 2007:977.
24. Feuchtbaum L, Faulkner L, Verghese S. Tandem mass spectrometry program implementation challenges for state programs: national survey of barriers and issues. Pediatrics 2006;117(5 Pt 2):S253-S260.