International
Wilson JMG, Junger F. Principles and practice of screening for disease. Geneva, Switzerland: World Health Organization, 1968; 26-39. Public health papers no. 34.
Primary health care approaches for prevention: an control of congenital and genetic disorders. WHO 1999; Document reference: WHO/HGN/WG/00.1 <html file>
ISNS General Guidelines for Neonatal Screening. http://www.isns-neoscreening.org/facts.htm
ISNS European region consensus statements. International Society for Neonatal Screening. 3rd ISNS European Regional Meeting, Seville, Spain. 2004; November http://www.isns-neoscreening.org/FactSheets/consensus-information.pdf <pdf file>
UK
Pollitt RJ, et al. Neonatal screening for inborn errors of metabolism : cost, yield and outcome. Health Technol Assessment 1997 : 1 (7) <pdf file>
Seymour CA, et al. Newborn screening for inborn errors of metabolism : a systematic review. Health Technol Assessment 1997 : 1 (11) <pdf file>
Pandor A, et al. Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review. Health Technol Assessment 2004: 8 (12) <pdf file>
Newborn blood spot screening in the UK: Policies and Standards. UK Newborn Screening Programme Centre. 2005; April. http://www.newbornscreening-bloodspot.org.uk/
USA
National Research Council. Committee for the Study of Inborn Errors of Metabolism. Genetic Screening: Programs, Principles and Research. Washington, DC: National Academy of Sciences; 1975 (NAS)
Andrews LB, et al. eds. Assessin Genetic Risks. Implications for Health and Social Policy. Washington DC: National Academy of Sciences; 1994 (IOM) <pdf file>
Holtzman NA, Watson MS, eds. Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing. Bethesda, MD: National Institues of Health; 1997 (NIH)
National Task Force on Newborn Screening. Newborn Screening: A Blueprint for the Future. Pediatrics 2000; 106(2): 386-422 (AAP) <pdf file>
Therrell BL, et al. US Newborn Screening Systems Guidelines. Statement of the Council of Regional Networks for Genetic Services. Screening 1992;1:135-47 (CORN)
Pass KA, et al. US newborn screening system guidelines II: follow-up of children, diagnosis, management, and evaluation. Statement of the Council of Regional Networks for Genetic Services. J Pediatr 2000;137(4 Suppl):S1-46 (CORN)
United States General Accounting Office. GAO Report on Characteristics of State Newborn Screening Programs. 2003 <pdf file>
National Newborn Screening and Genetics Resource Center website http://genes-r-us.uthscsa.edu/resources/newborn/newborn_menu.htm
Newborn Screening: Toward a Uniform Screening Panel and System. Final Report, March 8, 2005. American College of Medical Genetics. Federal Register: March 8, 2005 (Volume 70, Number 44) http://mchb.hrsa.gov/screening/
Australia and New Zealand
Human Genetics Society of Australasia --- Newborn Screening Policy http://www.hgsa.com.au/policy/ns.html
Germany
Bundesministerium fur Gesundheit und Soziale Sicherung. BAnz. Nr. 60 (S. 4833) vom 31.03.2005.
http://www.g-ba.de/cms/upload/pdf/abs5/beschluesse/2004-12-21-Kinder-TMS.pdf <pdf file>Netherlands
Neonatal Screening. The Hague: Health Council of the Netherlands. Health Council of the Netherlands. 2005; publication no. 2005/11.
http://www.gr.nl/pdf.php?ID=1244&p=1 <pdf file>
Personal communication
1. Aoki K. <email>
2. Dhondt JL. <email>
3. KHNEISSER I. <email> <doc file>
4. Loeber JG. <email> <pdf file>
5. Okano Y. <email>
6. Shigematsu Y. <email 1> <email 2 >
7. Tania MC. <email 1> <email 2>
8. Tanyalcin T. <email>
9. Wilcken B. <email>
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