Aggiornamento
Screening neonatale metabolico allargato
In arrivo una nuova realtà per la pediatria
NEWBORN EXPANDED METABOLIC SCREENING
Irene Bruno1, Alessandro Ventura1, Alberto Burlina2
1Clinica Pediatrica, IRCCS “Burlo Garofolo”, Università di Trieste
2UOC Malattie Metaboliche Ereditarie, Azienda Ospedaliera, Università di Padova
Settembre 2010 - pagg. 429 -433
Abstract
Newborn expanded screening is slowly starting in Italy. The programme will screen some
rare, most metabolic, diseases that could be managed and treated better if diagnosed in
the first days of life. The program has been adopted in many countries in Europe and
around the world though the lists of screened diseases vary widely, depending on political,
socio-economical and cultural reasons. At the moment, in Italy each region is choosing
if and when starting the screening and which diseases must be screened. Starting the
screening is not complicated from a technical point of view, the challenging part of the programme
is represented by the organization of the subsequent net of education of physicians,
communication of diagnosis, early care of patients, and is still a debated ethical issue.
This article tries to analyse pros and cons of this cultural revolution that will affect us
in the next years.
Parole chiave
Bibliografia
1. National Academy of Sciences. Genetic
screening: programs, principles, and research.
Washington, DC, 1975.
2. US Congress, Office of Technology Assessment, Healthy Children. Investing in the Future. OTA-H-345 (Washington, DC: US Government Printing Office, 1988). Appendix 2: Data and Methods Used in OTA’S Cost-Effectiveness Analysis of Strategies for Newborn Screening; http://www.wws.princeton.edu/ cgi-bin/byteser v.prl/~ota/disk2/1988/ 8819/881919.pdf.
3. McCabe ERB. Principle of newborn screening for metabolic disease. Perinatol Neonatol 1982;6:63-73.
4. Bodamer OA, Hoffmann GF, Lindner M. Expanded newborn screening in Europe 2007. J Inherit Metab Dis 2007;30:439-44.
5. SISMME-SISN Linee Guida per Screening Esteso e Conferma. Maggio 2008; http:// www.sismme.it/it/documents/GLEXPNBS20 08.pdf
6. la Marca G, Malvagia S, Casetta B, Pasquini E, Donati MA, Zammarchi E. Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests. J Inherit Metab Dis 2008 Oct 27 [Epub ahead of print].
7. Wilson JM, Jungner YG. Principles and practice of screening for disease. Geneva, Switzerland: World Health Organization 1968; 30:439-44.
8. Newborn screening toward a uniform screening panel and system. Executive summary; http://www.mchb.hrsa.gov/screening/ summary.ht
9. Gray JAM. New concepts in screening. Br J Gen Pract 2004;54:292-8.
10. Therrell BL, Panny SR, Davidson A, et al. US Newborn Screening system guidelines: statement of the Council of Regional Networks for Genetic Services (CORN). Screening 1992;1:135-47.
11. Wilcken B, Haas M, Joy P, et al. Expanded Newborn Screening: outcome in screened and unscreened patients at age 6 years. Pediatrics 2009;124:e241-8.
12. Therrell BL (Ed). Laboratory Methods for Neonatal Screening. Washington, DC: American Public Health Association, 1993.
13. Levy HL. Newborn Screening by Tandem Mass Spectrometry: A New Era. Clin Chem 1998;44:2401-2.
14. Orzalesi M, Danhaive O. Ethical problems with neonatal screening. Ann Ist Super Sanità 2009;45:325-30.
2. US Congress, Office of Technology Assessment, Healthy Children. Investing in the Future. OTA-H-345 (Washington, DC: US Government Printing Office, 1988). Appendix 2: Data and Methods Used in OTA’S Cost-Effectiveness Analysis of Strategies for Newborn Screening; http://www.wws.princeton.edu/ cgi-bin/byteser v.prl/~ota/disk2/1988/ 8819/881919.pdf.
3. McCabe ERB. Principle of newborn screening for metabolic disease. Perinatol Neonatol 1982;6:63-73.
4. Bodamer OA, Hoffmann GF, Lindner M. Expanded newborn screening in Europe 2007. J Inherit Metab Dis 2007;30:439-44.
5. SISMME-SISN Linee Guida per Screening Esteso e Conferma. Maggio 2008; http:// www.sismme.it/it/documents/GLEXPNBS20 08.pdf
6. la Marca G, Malvagia S, Casetta B, Pasquini E, Donati MA, Zammarchi E. Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests. J Inherit Metab Dis 2008 Oct 27 [Epub ahead of print].
7. Wilson JM, Jungner YG. Principles and practice of screening for disease. Geneva, Switzerland: World Health Organization 1968; 30:439-44.
8. Newborn screening toward a uniform screening panel and system. Executive summary; http://www.mchb.hrsa.gov/screening/ summary.ht
9. Gray JAM. New concepts in screening. Br J Gen Pract 2004;54:292-8.
10. Therrell BL, Panny SR, Davidson A, et al. US Newborn Screening system guidelines: statement of the Council of Regional Networks for Genetic Services (CORN). Screening 1992;1:135-47.
11. Wilcken B, Haas M, Joy P, et al. Expanded Newborn Screening: outcome in screened and unscreened patients at age 6 years. Pediatrics 2009;124:e241-8.
12. Therrell BL (Ed). Laboratory Methods for Neonatal Screening. Washington, DC: American Public Health Association, 1993.
13. Levy HL. Newborn Screening by Tandem Mass Spectrometry: A New Era. Clin Chem 1998;44:2401-2.
14. Orzalesi M, Danhaive O. Ethical problems with neonatal screening. Ann Ist Super Sanità 2009;45:325-30.
Corrispondenza: brunoi@burlo.trieste.it