National evaluation of US newborn screening system components

Mental Retardation and Developmental Disabilities Research Reviews

Volumn 12, Issue 4, 2006, Pages 236-245

  Therell, Bradford L ^a,b   Hannon, W Harry ^c  

^a National Newborn Screening and Genetics Resource Center   (United States)

^b UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^c CENTERS FOR DISEASE CONTROL AND PREVENTION   (United States)

Author keywords

Newborn screening; Program assessment; Quality improvement; Screening laboratory; System evaluation

Indexed keywords

HEALTH CARE POLICY; HEALTH CARE QUALITY; HEALTH CARE SYSTEM; HUMAN; LABORATORY; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; PUBLIC HEALTH SERVICE; REVIEW; UNITED STATES;

COSTS AND COST ANALYSIS; DATABASES, FACTUAL; DIFFUSION OF INNOVATION; FINANCING, GOVERNMENT; GENETIC SCREENING; HEALTH CARE SURVEYS; HUMANS; INFANT, NEWBORN; NEEDS ASSESSMENT; NEONATAL SCREENING; PRACTICE GUIDELINES; PROFESSIONAL COMPETENCE; QUALITY ASSURANCE, HEALTH CARE; REFERRAL AND CONSULTATION; UNITED STATES; UNITED STATES HEALTH RESOURCES AND SERVICES ADMINISTRATION;

EID: 33846005515     PISSN: 10804013     EISSN: 10982779     Source Type: Journal    
DOI: 10.1002/mrdd.20124     Document Type: Review

References (23)

1. American College of Medical Genetics. 2005. Newborn screening: Toward a uniform screening panel and system. Available at http://www.mchb.hrsa.gov/ screening/ (accessed on 11/1/06).
2. Bayse DD, editor. 1980. In: Proceedings of the Conference on a National Model for Standardization of Neonatal Hypothyroid Screening Programs, Atlanta, GA, August 21-22, 1979. Atlanta: Centers for Disease Control.
3. Clinical and Laboratory Standards Institute. 2005. Newborn screening follow-up; proposed guideline. Wayne, PA: Clinical and Laboratory Standards Institute. CLSI document I/LA27-P.
4. Committee for the Study of Inborn Errors of Metabolism, National Research Council. 1975. Genetic screening: Programs, principles, and research. Washington, DC: National Academy of Sciences. p 91.
5. Dobbins RH, editor. 1983. In: Proceedings of the National Newborn Screening Symposium, Chicago, IL, October 26-28, 1982. Chicago: Illinois Department of Public Health.
6. Dussault JH, Coulombe P, Laberge C. 1974. Preliminary report on a mass screening program for neonatal hypothyroidism. Disabil Rehabil 86:620-624.
7. Dussault JH, Laberge C. 1973. Thyroxine (T4) determination in dried blood by radioimmuno-assay: A screening method for neonatal hypothyroidism. Union Med Can 102:2062-2064.
8. Federal Register. 2000. October 1;CFR42 (§493.901-959). p 922-940.
9. General Accounting Office, US Congress. 2003. Newborn screening: Characteristics of state programs. Available at http://gao.gov/cgi-bin/getrpt? GAO-03-449 (accessed on 11/1/06).
10. Guthrie R, Susi A. 1963. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32:338-343.
11. Holtzman C, Slazyk WE, Cordero JF, et al. 1986. Descriptive epidemiology of missed cases of phenylketonuria and congenital hypothyroidism. Pediatrics 78:553-558.
12. Koch JH. 1997. Robert Guthrie-The PKU story: Crusade Against Mental Retardation. Pasadena, CA: Hope Publishing House.
13. Larson PR, Merker H, Parlow AF. 1976. Immunoassay of human TSH using dried blood samples. J Clin Endrocrinol Metab 42:987-990.
14. National Newborn Screening and Genetics Resource Center. 2005. Performance evaluation and assessment scheme for newborn screening systems. Available at http://genes-r-us.uthscsa.edu (accessed on 11/1/06).
15. NCCLS. 2000. Blood collection on filter paper for newborn screening programs: Approved standard,-4th ed. Wayne, PA: NCCLS. NC-CLS document LA4-A4.
16. NIH Consensus Development Panel. 1987. Newborn screening for sickle cell disease and other hemoglobinopathies. JAMA 258:1205-1209.
17. Office of Technology Assessment, US Congress. 1988. Newborn screening for congenital disorders. In: Healthy children: investing in the future. Washington, DC: US Government Printing Office. pp 91-116. Publication No. OTA-H-345.
18. Public Law 100-578. 1988. Clinical Laboratory Improvement Amendments of 1988.
19. Slazyk WE, Hannon WH. 1993. Quality assurance in the newborn screening laboratory. In: Therrell BL Jr, editor. Laboratory methods for neonatal screening. Washington, DC: American Public Health Association. pp 23-46.
20. Therrell BL, editor. 1982. In: Proceedings of the National Symposium on Laboratory Aspects of Newborn Screening, Austin, TX, December 1-3, 1981. Austin, TX: Texas Department of Health.
21. Therrell BL. 2001. US newborn screening policy dilemmas for the twenty-first century. Mol Genet Metab 74:64-74.
22. Therrell BL, Panny SR, Davidson A, et al. 1992a. US newborn screening system guidelines: statement of the Council of Regional Networks for Genetic Services (CORN). Screening 1:135-147.
23. Therrell BL, Tuerck J, McCabe ERB. 1992b. Newborn screening systems in the United States-A critical review. In: Wilcken B, Webster D, editors. Neonatal screening in the nineties. Manley Vale, NSW: Kelvin Press. pp 18-24.