Alberta Health and Wellness (2006) Newborn metabolic screening in Alberta 2002–2005. Edmonton: Provincial Health Office, Public Health Divison.
American Academy of Pediatrics, Newborn Screening Task Force (2000) Serving the family from birth to the medical home – Newborn screening: a blueprint for the future. Pediatrics 106(suppl): 383–427.
American Academy of Pediatrics, Committee on Bioethics (2001) Ethical issues with genetic testing in pediatrics. Pediatrics
American College of Medical Genetics, Newborn Screening Working Group (2006) Newborn screening: toward a uniform screening panel and system. Genetics in Medicine
Andersson HC, Narumanchi TC, Cunningham A, Bowdish B, Thoene J (2006) Genetic/metabolic health care delivery during and after hurricanes Katrina and Rita. Molec Genet Metabol
Andrews LB (1985) Legal liability and quality assurance in newborn screening. Chicago: American Bar Foundation.
Auray-Blais C, Giguere R, Lemieux B (2003) Newborn urine screening programme in the province of Quebec: an update of 30 years’ experience. J Inherit Metab Dis
Botkin JR, Clayton EW, Fost NC, et al (2006) Newborn screening technology: proceed with caution. Pediatrics
Brown DK, Dort JC, Sauve R (2001) Newborn hearing screening programs – a truly Canadian perspective. J Speech-Lang Pathol Audiol 24: 48–58.
Burrow GN, Dussault JH (1980) Neonatal Thyroid Screening. New York: Raven Press.
Carmichael SK, Johnson SB, Baughcum A, et al (2003) Prospective assessment in newborns of diabetes autoimmunity (PANDA): maternal understanding of infant diabetes risk. Genetics in Medicine
Chace DH, Millington DS (1994) Neonatal screening for inborn errors of metabolism by automated dynamic liquid secondary ion tandem mass spectrometry. In Farriaux J-P, Dhondt J-L eds. New Horizons in Neonatal Screening. Amsterdam: Elsevier Science Publishers 373–376.
Chace DH, Millington DS, Terada N, Kahler SG, Roe CR, Hofman LF (1993) Rapid diagnosis of phenylketonuria by quantitative analysis for phenylketonuria and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem
Chan K, Puck JM (2005) Development of population-based newborn screening for severe combined immunodeficiency. J Allerg Clin Immunol
Clow C, Scriver CR, Davies E (1969) Results of mass screening for hyperaminoacidemias in the newborn infant. Amer J Dis Child
Comeau AM, Hsu HW, Schwerzler M, Mushinsky G, Grady GF (1992) Detection of HIV in specimens from newborn screening programs. N Engl J Med
Department of Health and Human Services (1980) State Laws and Regulations on Genetic Disorders. Washington, D.C.: U.S. Department of Health and Human Services, DHHS Publication No. (HSA) 81–5243.
Descartes M, Huang Y, Zhang YH, et al (1992) Genotypic confirmation from original dried blood specimens in a neonatal hemoglobinopathy screening program. Pediatr Res
Dussault JH, Laberge C (1973) Thyroxine (T4) determination in dried blood by radioimmunoassay: a screening method for neonatal hypothyroidism. Union Med Can
Dussasult JH, Coulomb P, Laberge C, Letarte J, Guyda H, Khoury K (1975) Preliminatry report on a mass screening program for neonatal hypothyroidism. J Pediatr
Dussault JH, Parlow A, Letarte J, Guyda H, Laberge C (1976) TSH measurements from blood spots on filter paper. A confirmatory screening test for neonatal hypothyroidism. J Pediatr
Efron ML, Young D, Moser HW, MacCready RA (1964) A simple chromatographic screening test for the detection of disorders of amino acid metabolism: a technique using whole blood or urine collected on filter paper. New Engl J Med
Fisher DA, Dussault JH, Foley TP et al (1979) Screening for congenital hypothyroidism: results of screening one million North American infants. J Pediatr
Fox JG, Hall DL, Haworth JC, Maniar A, Sekla L (1971) Newborn screening for hereditary metabolic disorders in Manitoba. 1965–1970. Can Med Assoc J
Gaston MH, Verter JI, Wood G, et al (1986) Prophylaxis with oral penicillin in children with sickle cell anemia. A randomized trial. N Engl J Med
Garrick MD, Dembure P, Guthrie R (1973) Sickle cell anemia and other hemoglobinopathies: procedures and strategy for screening spots of blood on filter paper as specimens. N Engl J Med
Green NS, Pass KA (2005). Neonatal screening by DNA microarray: spots and chips. Nature Rev Genetics
Gregg RG, Wilfond BS, Farrell PM, Laxova A, Hassemer D, Mischler EH (1993) Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols. Am J Hum Genet
Guthrie R (1962) Screening for ‘inborn errors of metabolism’ in the newborn infant - a multiple test program. Birth defects Original Article Series IV: 92–98.
Guthrie R (1964) Routine screening for inborn errors in the newborn: ‘inhibition assays,’ ‘instant bacteria’ and multiple tests. In Oster J, ed. Proceedings of the International Copenhagen Congress on the Scientific Study of Mental Retardation. Copenhagen: Statens Andssvage Forsong, 495–499.
Guthrie R (1992) The origin of newborn screening. Screening
Guthrie R, Susi A (1963) A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics
Hanley WB (2005) Newborn screening in Canada – are we out of step? Paediatr Child Health
Hanley WB, Partington MW, Rathbun JC, Amies CR, Webb JF, Moore JE (1969) The newborn phenylketonuria screening program in Ontario. Can Med Assoc J 101: 185–190.
Haworth JC, Miller JR, Scriver CR (1974) Screening, counseling and treatment of hereditary metabolic disease; a survery of resources in Canada. Can Med Assoc J
Holtzman C, Slazyk WE, Cordero JF, Hannon WH (1986) Descriptive epidemiology of missed cases of phenylketonuria and congenital hypothyroidism. Pediatrics
Houston IB, Veale AMO (1971) Screening for inborn errors of metabolism. Lab Manag 9: 30–32 and 53.
Hsu HW, Grady GF, Maguire JH, Weiblen BJ, Hoff R (1992) Newborn screening for congenital Toxoplasma infection: five years experience in Massachusetts, USA. Scand J Infect Dis 84 (suppl): 59–64.
Jinks DC, Minter M, Tarver DA, Vanderford M, Hejtmancik JF, McCabe ERB (1989) Molecular genetic diagnosis of sickle cell disease using dried blood specimens from newborn screening blotters. Hum Genet
Johnson K, Lloyd-Puryear MA, Mann MY, Ramos LR, Therrell BL (2006) Financing state newborn screening programs: sources and uses of funds. Pediatrics
117 (suppl): S270–9.PubMed
Joint Commission on Infant Hearing (2000) Year 2000 position statement: principles and guidelines for early hearing detection and intervention programs. Pediatrics
Koch JH (1997) Robert Guthrie: The PKU Story. Pasadena: Holt Publishing House.
Kling S, Nash C, Jones D (1988) Newborn screening in the 80’s – the automation of follow-up. J Med Sys
Laberge C (1980) Organization and cost benefits of mass screening programs. In: Burrow GN, Dussault JH eds Neonatal Thyroid Screening. New York: Raven Press, 189–198.
LaFranchi SH, Hanna CE, Krainz PL, Skeels MR, Miyahira RS, Sesser DE (1985) Screening for congenital hypothyroidism with specimen collection at two time periods: results of the Northwest Regional Screening Program. Pediatrics
Lacey JM, Minutti CZ, Magera MJ et al (2004) Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem
Lemieux B, Auray-Blais C, Giguere R, Bernier J-P (1987) Controversies over neontatl screening for muscular dystrophy. In Therrell BL ed Advances in Neonatal Screening. Amsterdam: Elsevier Science Publishers, 355–360.
Lemieux B, Auray-Blais C, Giguere R, Shapcott D, Scriver CR (1988) Newborn urine screening experience with over one million infants in the Quebec Network of Genetic Medicine. J Inherit Metab Dis
Lemieux B, Auray-Blais C, Giguere R, Scriver CR (1989) Neuroblastoma screening: the Canadian experience. Medical & Pediatric Oncology
Levine GD, Therrell BL (1986) Second testing for hypothyroidism. Pediatrics
Li Y, Brockmann K, Turecek F, Scott CR, Gelb, MH (2004) Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease. Clin Chem
Magera MJ, Gunawardena ND, Hahn SH et al (2006) Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I. Molec Genet Metabol
Meaney FJ (1988) Computerized tracking for newborn screening and follow-up: a review. J Med Sys
McCabe ERB, Huang S-Z, Seltzer WK, Law ML (1987) DNA microextraction from dried blood spots on filter paper blotters: potential applications to newborn screening. Hum Genet
McGhee SA, Stiehm ER, Cowan M, Krogstad P, McCabe ER (2005a) Two-tiered universal newborn screening strategy for severe combined immunodeficiency. Molec Genet Metabol
McGhee SA, Stiehm ER, McCabe ER (2005b) Potential costs and benefits of newborn screening for severe combined immunodeficiency. J Pediatr
Millington DS, Kodo N, Norwood DL, Roe CR (1990) Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metabol Dis
Minutti CZ, Lacey JM, Magera MJ et al (2004) Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J Clin Endocriol Metabol
Mordaunt VL, Cunningham GC, Kan K (1988) Computer assisted management of a regionalized newborn screening program. J Med Sys
Murphey WH, Patchen L, Guthrie R (1972) Screening tests for argininosuccinic aciduria, orotic aciduria, and other inherited enzyme deficiencies using dried blood specimens. Biochem Genet
National Institutes of Health, Consensus Development Conference Statement (1987) Newborn screening for sickle cell disease and other hemoglobinopathies. J Amer Med Assoc
National Institutes of Health, Consensus Development Conference Statement (1993) Early identification of hearing impairment in infants and young children. Internat J Pediatr Otorhinolaryngol
National Research Council, Committee for the Study of Inborn Errors of Metabolism (1975) Genetic screening: programs, principles, and research.
Washington, D.C.: National Academy of Science.CrossRef
Naylor EW, Guthrie R (1978) Newborn screening for maple syrup urine disease (branched-chain ketoaciduria). Pediatrics
Naylor EW, Orfanos AP, Guthrie R (1977) A simple screening test for arginase deficiency (hyperargininemia). J Lab Clin Med
Naylor EW, Orfanos AP, Guthrie R (1978). An improved screening test for adenosine deaminase deficiency. J Pediatr
Ontario Ministry of Health, Advisory Committee on Inborn Errors of Metabolism (1973) PKU screening – is it worth it? Can Med Assoc J 108: 328–329.
Orfanos AP, Naylor EW, Guthrie R (1978) Micromethod for estimating adenosine deaminase activity in dried blood spots on filter paper. Clin Chem
Pang S, Hotchkiss J, Drash AL, Levine LS, New MI (1977) Micro filter paper method for 17-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab
Rashed MS, Ozand PT, Bucknall MP, Little D (1995) Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res
Rinaldo P, Zafari S, Tortorelli S, Matern D (2006) Making the case for objective performance metrics in newborn screening by tandem mass spectrometry. Mental Retardation & Developmental Disabilities Research Reviews.
Scriver CR, Laberge C, Clow CL, Fraser CF (1978) Genetics and medicine: an evolving relationship. Science
Spada M, Pagliardini S, Yasuda M, et al (2006) High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet
Therrell BL (1982) Computerization in the newborn screening laboratory: an aid to data management. In Naruse H, Irie M, eds. Neonatal Screening. Amsterdam: Elsevier Science Publishers, 455–460.
Therrell BL (1988) Hemoglobinopathy testing in newborn screening programs in the United States. In Schmidt BJ, Diament AJ, Loghin-Grosso NS, eds. Current Trends in Infant Screening. Amsterdam: Elsevier Science Publishers, 331–337.
Therrell BL (2001) U.S. newborn screening policy dilemmas for the twenty-first century. Molec Genet Metabol
Therrell BL (2003) Data integration and warehousing: coordination between newborn screening and related public health programs. Southeast Asian J Trop Med Pub Health 34 (suppl 3): 63–68.
Therrell BL, Brown LO (1988) Computerized newborn screening in Texas – a multiple microcomputer approach. J Med Sys
Therrell BL, Hannon WH (2006) National evaluation of US newborn screening system components. Mental Retardation and Developmental Disabilities Research Reviews
Therrell BL, Tuerck JM, McCabe ERB (1992a) Newborn screening systems in the United States. In Wilcken B, Webster D, eds. Neonatal Screening in the Nineties. Manly Vale, NSW, Australia: The Kelvin Press, 18–24.
Therrell BL, Panny SR, Davidson A, et al (1992b) U.S. Newborn screening system guidelines: statement of the Council of Regional Networks for Genetic Services. Screening
Therrell BL, Williams D, Johnson K, Lloyd-Puryear MA, Mann MY, Ramos LR (2007) Financing newborn screening: sources, issues, and future considerations. J Pub Health Management and Practice 13: 207–213.
US General Accounting Office (2003) State NBS Programs. Washington, D.C.: US Government Printing Office, Publication No. GAO-03–449.
Wilson JMG, Jungner F (1968) Principles and practice of screening for disease. WHO Public Health Papers No. 34.
World Health Organization, Scientific Group on Screening for Inborn Errors of Metabolism (1968) Screening for inborn errors of metabolism. WHO Technical Report Series 401: 1–57.
Wolfson M, Wu MM (1988) Postrelational database implementation for newborn screening and tracking. J Med Sys
Yeates G (2007) Health care: funding, facts and future. Policy Opinions March: 69–72.
Zhang YH, McCabe ERB (1992) RNA analysis from newborn screening dried blood specimens. Hum Genet