Understanding newborn screening system issues with emphasis on cystic fibrosis screening

Journal of Pediatrics

Volumn 147, Issue 3 SUPPL., 2005, Pages

  Therrell, Bradford L ^a   Lloyd Puryear, Michele A ^b   Mann, Marie Y ^b  

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

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL EXAMINATION; CONFERENCE PAPER; CYSTIC FIBROSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; EVALUATION; HEALTH CARE; HEALTH CARE POLICY; HEALTH PROGRAM; HUMAN; HUMAN RIGHTS; MEDICAL CARE; MEDICAL PROFESSION; NEWBORN SCREENING; PRIORITY JOURNAL; WORLD HEALTH ORGANIZATION;

ADVISORY COMMITTEES; AFTERCARE; CLINICAL PROTOCOLS; CONSENSUS; CYSTIC FIBROSIS; EARLY DIAGNOSIS; FEDERAL GOVERNMENT; FORECASTING; HEALTH PLANNING GUIDELINES; HEALTH POLICY; HUMANS; INFANT, NEWBORN; INTERINSTITUTIONAL RELATIONS; MANDATORY TESTING; NEONATAL SCREENING; OUTCOME ASSESSMENT (HEALTH CARE); POLICY MAKING; PRACTICE GUIDELINES; STATE HEALTH PLANS; UNITED STATES;

EID: 26044448656     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2005.08.073     Document Type: Conference Paper

References (32)

1. Guthrie R. Screening for "inborn errors of metabolism" in the newborn infant - a multiple test program. Birth Defects Original Article Series IV, p. 92-8, 1962.
2. R. Guthrie, and A. Susi A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants Pediatrics 32 1963 338 343
3. B.L. Therrell NBS: reviewing the past, exploring the future S.T.S. Lam C.C.P. Pang Neonatal and Perinatal Screening 1996 The Chinese University Press Hong Kong 9 18
4. M.D. Garrick, P. Dembure, and R. Guthrie Sickle cell anemia and other hemoglobinopathies: procedures and strategy for screening spots of blood on filter paper as specimens N Engl J Med 288 1973 1265 1268
5. J.H. Dussault, and C. Laberge Thyroxine (T4) determination in dried blood by radioimmunoassay: a screening method for neonatal hypothyroidism Union Med Can 102 1973 2062 2064
6. J.H. Dussault, A. Parlow, J. Letarte, H. Guyda, and C. Laberge TSH measurements from blood spots on filter paper. A confirmatory screening test for neonatal hypothyroidism J Pediatr 89 1976 550 552
7. S. Pang, J. Hotchkiss, A.L. Drash, L.S. Levine, and M.I. New Micro-filter paper method for 17-hydroxy-progesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia J Clin Endocrin Metab 45 1977 1003 1008
8. J.R. Crossley, R.B. Elliott, and P.A. Smith Dried-blood spot screening for cystic fibrosis in the newborn Lancet 1 1979 472 474
9. M. Descartes, Y. Huang, Y.H. Zhang, L.L. McCabe, R. Gibbs, and B.L. Therrell Genotypic confirmation from original dried blood specimens in a neonatal hemoglobinopathy screening program Pediatr Res 31 1992 217 221
10. D.H. Chace, S.L. Hillman, J.L.K. Van Hove, and E.W. Naylor Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry Clin Chem 43 1997 2106 2113
11. J.J. Stoddard, and P.M. Farrell State-to-state variations in NBS policies Arch Pediatr Adolesc Med 151 1997 561 564
12. American Academy of Pediatrics, NBS Task Force Serving the family from birth to the medical home - NBS: a blueprint for the future Pediatrics 106 suppl 2000 383 427
13. National NBS and Genetics Resource Center National NBS Report - 2000 2003 Austin, TX NNSGRC p. 139
14. NBS for cystic fibrosis: a paradigm for public health genetics policy development - Proceedings of a 1997 workshop MMWR 46 RR16 1997 1 22
15. B.L. Therrell, S.R. Panny, A. Davidson, J. Eckman, W.H. Hannon, and M.A. Henson US NBS system guidelines: statement of the Council of Regional Networks for Genetic Services (CORN) Screening 1 1992 135 147
16. K.A. Pass, P.A. Lane, P.M. Fernhoff, C.F. Hinton, S.R. Panny, and J.S. Parks US NBS system guidelines II: follow-up of children, diagnosis, management and evaluation - statement of the Council of Regional Networks for Genetics Services (CORN) J Pediatr 137 2000 S1 S46
17. B.L. Therrell US NBS policy dilemmas for the twenty-first century Molec Genet Metab 74 2001 64 74
18. NCCLS Blood collection on filter paper for NBS programs: approved standard - fourth edition 2004 Wayne, PA NCCLS
19. American Academy of Pediatrics, Section on Endocrinology and Committee on Genetics, and American Thyroid Association Committee on Public Health NBS for congenital hypothyroidism: recommended guidelines Pediatrics 91 1993 1203 1209
20. Task Force on Newborn and Infant Hearing, American Academy of Pediatrics Newborn and infant hearing loss: detection and intervention Pediatrics 103 1999 527 530
21. B.L. Therrell, W.H. Hannon, K.A. Pass, F. Lorey, C. Brokopp, and J. Eckman Guidelines for the retention, storage, and use of residual dried blood spot samples after NBS analysis: statement of the Council of Regional Networks for Genetic Services Biochem Mol Med 57 1996 116 124
22. Committee on Genetics, American Academy of Pediatrics NBS fact sheets Pediatrics 98 1996 473 501
23. P.M. Farrell, M.R. Kosorok, M.J. Rock, A. Laxova, L. Zeng, and H.C. Lai Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth Pediatrics 107 2001 1 12
24. M.H. Farrell, and P.M. Farrell NBS for cystic fibrosis: ensuring more good than harm J Pediatr 143 2003 707 712
25. P.M. Farrell, Z. Li, M.R. Kosorok, A. Laxova, C.G. Green, and J. Collins Bronchopulmonary disease in children with cystic fibrosis after early or delayed diagnosis Am J Respir Crit Care Med 168 2003 1100 1108
26. W.W. Grody, G.R. Cutting, K.W. Klinger, C.S. Richards, M.S. Watson, and R.J. Desnick Laboratory standards and guidelines for population-based cystic fibrosis carrier screening Genet Med 3 2001 149 154
27. J.M.G. Wilson, and F. Jungner Principles and practice of Screening for disease (Public Health Papers No. 34) 1968 World Health Organization Geneva
28. Committee for the Study of Inborn Errors of Metabolism, National Research Council Genetic screening: programs, principles, and research 1975 Natl Acad Sci Washington, DC
29. L.B. Andrews J.E. Fullarton N.A. Holtzman A.G. Motulsky Assessing Genetic Risks. Implications for Health and Social Policy 1994 Natl Acad Sci Washington DC
30. Human Genetics Society of Australasia. On line at http://www.hgsa.com.au/
31. Bordeaux P. Personal communication. December 2002.
32. National Institutes of Health Consensus Conference NBS for sickle cell disease and other hemoglobinopathies JAMA 258 1987 1205 1209