Neonatal screening

Turkish Journal of Pediatrics

Volumn 45, Issue 2, 2003, Pages 87-94

  Pàmpols, Teresa ^a  

^a Institut de Bioquimica Clinica Barcelona   (Spain)

Author keywords

Community genetics; Genetic screening; Inborn errors of metabolism; Inherited metabolic diseases; Neonatal screening; Newborn screening; Screening population

Indexed keywords

EARLY DIAGNOSIS; EPIDEMIOLOGICAL DATA; HUMAN; INBORN ERROR OF METABOLISM; INFANT MORTALITY; MEDICAL DECISION MAKING; MENTAL DEFICIENCY; NEWBORN; NEWBORN SCREENING; PREVALENCE; PREVENTIVE MEDICINE; REVIEW; TANDEM MASS SPECTROMETRY;

FORECASTING; HUMANS; INFANT, NEWBORN; MASS SPECTROMETRY; NEONATAL SCREENING;

EID: 0038262944     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (28)

1. Laberge C. Public health rational for NBS and civic values. In: Farriaux & Dhont (eds). New Horizons in Neonatal Screening. Amsterdam: Excerpta Medica, Elsevier Science; 1944: 25-45.
2. American Academy of Pediatrics Newborn Screening Task Force. Serving the family from birth to the medical home. Newborn screening: a blueprint for the future. Pediatrics 2000; 106 (Suppl): 386-427.
3. Council of Regional Networks for Genetic Services (CORN). Guidelines for Clinical Genetic Services for, the Public's Health (1st ed). CORN, Atlanta, GA; 1997.
4. The European Commission. The State of Health in the European Community (http://europa.eu.int/comm/health/ph/programmes/monitor/health.htm).
5. Scriver CH, Beaudet AL, Sly WS, et al. The Metabolic & Molecular Bases of Inherited Disease (8th ed). New York: McGraw-Hill; 2001.
6. Jimenez-Sanchez G, Childs B, Valle DR. Mendelian disease on human helath. In: Scriver CH, Beaudet AL, Sly WS, et al. (eds). The Metabolic and Molecular Bases of Inherited Disease (8th ed) Vol I. New York. Mc Graw-Hill; 2001: 167-174.
7. Swetman L, Roe CR. MS/MS screening: diagnostic confirmation and follow-up. Abstracts book of the 5th meeting of the International Society for Neonatal Screening. Geneva, 2002: 70.
8. Wilson JM, Junger G. Principles and Practice of Screening for Disease. WHO Public Health Paper, Geneva 1968.
9. Dulin E, Cortés E, Chamorro F, et al. Estado actual de los programas de cribado neonatal en Espana. Evaluacion ano 1999. Acta Pediatrica Espanola 2001; 59: 8-25.
10. SISN (Societa Italiana per Gli Screening Neonatali http://mcweb.unica.it/sism) see also link in www.isns-neoscreening.org.
11. Web site of the National Newborn Screening and Genetics Resource Center of the United States (http://genes-r-us.uthscsa,edu).
12. Badawi N, Cahalcure SF, McDonald M, et al. Galactosaemia-a controversial disorder. Screening & outcome: Ireland 1972-1992. Ir Med J 1996; 89: 16-17.
13. Schweitzer S. Newborn mass screening for galactosemia. Eur J Pediatr 1995; 154 (Suppl): S37-S39.
14. Waggoner DD, Buist NR, Donnell GN. Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis 1990; 13: 802-818.
15. Wilken B, Travet G. Neonatal screening for cystic fibrosis: present and future. Acta Paediatr 1999; 88 (Suppl): 33-35.
16. Pollit RJ. Designing a national screening programme for cystic fibrosis. Abstracts book of the 5th meeting of the International Society for Neonatal Screening. Genova 2002: 57.
17. Schulze A, Lindner M, Olgemöller K, Mayatepek E, Hoffmann GF. Outcome study of extended neonatal screening for inborn errors of metabolism by electrospray ionization tandem mass spectrometry. Abstracts book of the 5th meeting of the International Society for Neonatal Screening. Genova 2002: 71.
18. Von Kries R, Klose D, Roscher A, Liebl B, Lindner Mschulze A, Hoffmann GF. Frequencies of inherited organic acidurias and fatty acid transport and mitochondrial oxidation disorders in Germany. Abstract book of the 5th meeting of the International Society for Neonatal Screening. Genova 2002: 71.
19. Maier EM, Krone N, Busch U, et al. Medium chain acyl-CoA dehydrogenase (MCAD) mutations in patients identified by prospective MS/MS-based newborn screening in Bavaria. Abstracts book of the 5th meeting of the International Society for Neonatal Screening. Genova 2002: 113.
20. ACMG/ASHNG Statement. Genetics in Medicine, 2000; 2: 267-269.
21. Naylor EW, Chace DH. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Chil Neurol 1999; 14 (Suppl): S4-S8.
22. Bordeaux P, Van Thi HV, Herremans N, De Laet C, Goyens Ph. Screening for IEM in dried blood spots with MS/MS. A 2.5 year experience of the Brussels Center for Neonatal Screening. Abstracts book of the 5th meeting of the International Society for Neonatal Screening. Genova 2000: 119.
23. Ranieri E, Bartlett B, Barnard K, Harrison JR, Fletcher JM. Performance of the south Australian expanded neonatal screening programme using tandem mass spectrometry. Abstract book of the 5th International Meeting of the International Society for Neonatal Screening. Genova 2002: 117.
24. Treacy EP, Valle D, Scriver CH. Treatment of genetic diseases. In: Scriver CH, Beaudet AL, Sly WS, Valle D, et al. (eds). The Metabolic and Molecular Bases of Inherited Disease (8th ed) Vol I. New York: Mc Graw-Hill; 2001: 175-191.
25. Avard D, Knoppers BM. Screening and children policy issues for the new millennium. Canadian J Policy Research 2001; 2: 46-55.
26. Nuffield Council on Bioethics. Genetic Screening: Ethical Issues. Nuffield Council on Bioethics, Birmingham, 1993.
27. EUROGAPP Project 1999-2000. European Society of Human Genetics. Public and Professional Policy Committee. Population Genetic Screening Programmes: Principles, Techniques, Practices, and Policies (http://www.esh.org).
28. Rinaldo P, Hahn S, Matern D. New paths in neonatal screening: where are we going and how? Abstract book of the 5th meeting of the International Society for Neonatal Screening. Genova 2002: 73.