Situación actual del cribado neonatal de enfermedades metabólicas en España y en el mundo

Guthrie, 1963, A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants, Pediatrics., 32, 338, 10.1542/peds.32.3.338 Wilson, 1968 Millington, 1990, Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism, J Inherit Metab Dis., 13, 321, 10.1007/BF01799385 Van der Hilst, 2007, Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands, J Pediatr., 151, 115, 10.1016/j.jpeds.2007.03.013 Loeber, 2007, Neonatal screening in Europe; the situation in 2004, J Inherit Metab Dis., 30, 430, 10.1007/s10545-007-0644-5 Loeber, 2012, Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result, J Inherit Metab Dis., 35, 603, 10.1007/s10545-012-9483-0 McHugh, 2011, Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project, Genet Med., 13, 230, 10.1097/GIM.0b013e31820d5e67 Chace, 2003, Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns, Clin Chem., 49, 1797, 10.1373/clinchem.2003.022178 ACMG. Newborn screening: Toward a uniform screening panel and system. Genetic Med. 2006;8. Advisory Committee on Heritable Disorders in Newborns and Children - Recommended Uniform Screening Panel [consultado 10 Sep 2018]. Disponible en: https://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendedpanel/index.html Newborn Screening in Canada Status Report - 2015 [consultado 10 Sep 2018]. Disponible en: https://www.raredisorders.ca/content/uploads/Canada-NBS-status-updated-Sept.-3-2015.pdf De Cespedes, 2004, Evolution and innovations of the National Neonatal and High Risk Screening Program in Costa Rica, Rev Biol Trop., 52, 451 Queiruga, 2011, Sistema Nacional de Pesquisa Neonatal en Uruguay, Mem Inst Investig Cienc Salud., 9, 72 Wilcken, 2003, Screening newborns for inborn errors of metabolism by tandem mass spectrometry, N Engl J Med., 348, 2304, 10.1056/NEJMoa025225 Yamaguchi, 2008, Newborn screening in Japan: Restructuring for the new era, Ann Acad Med Singapore., 37, 13 Shawky, 2012, Newborn screening in Middle East and North Africa – Challenges and recommendations, Hamdan Med J., 5, 191, 10.7707/hmj.v5i3.192 Therrell, 2015, Current status of newborn screening worldwide: 2015, Semin Perinatol., 39, 171, 10.1053/j.semperi.2015.03.002 Burgard, 2012, Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance, J Inherit Metab Dis., 35, 613, 10.1007/s10545-012-9484-z Ministère des solidarités et de la santé. Programme national de dépistage néonatal [consultado 10 Sep 2018]. Disponible en: https://solidarites-sante.gouv.fr/soins-et-maladies/prises-en-charge-specialisees/maladies-rares/DNN Haute Autorité de Santé. Recommendations for the expansion of newborn screening for MCAD deficiency. June 2011 [consultado 12 Sep 2018]. Disponible en: https://www.has-sante.fr//portail/upload/docs/application/pdf/2011-07/fs_depistage_neonatal-en-v2.pdf Groselj, 2014, Newborn screening in southeastern Europe, Mol Genet Metab., 113, 42, 10.1016/j.ymgme.2014.07.020 Ministerio della Salute. Disposizioni per l’avvio dello screening neonatale per la diagnosi precoce di malattie metaboliche ereditarie. Gazzetta Ufficiale della Repubblica Italiana. Decreto 13 ottobre 2016 [consultado 11 Sep 2018]. Disponible en: http://www.gazzettaufficiale.it/eli/id/2016/11/15/16A08059/sg Couce, 2019, Cincuenta años de cribado neonatal de enfermedades congénitas en España, An Pediatr (Barc)., 90, 205, 10.1016/j.anpedi.2018.11.013 Couce, 2011, Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme, Mol Genet Metab., 104, 470, 10.1016/j.ymgme.2011.09.021 Juan-Fita, 2013, Cribado neonatal ampliado en la Región de Murcia. Experiencia de tres años, Med Clin (Barc)., 141, 566 Resumen ejecutivo del Grupo de Expertos sobre Concreción de la Cartera Común de Servicios para Cribado Neonatal. Rev Pediatr Aten Primaria. 2013;15:e129. Ministerio de Sanidad, Consumo y Bienester Social. Programas de Cribado neonatal de enfermedades endocrino-metabólicas. Madrid: MSCBS; 2017 [consultado 13 Sep 2018]. Disponible en: http://www.mscbs.gob.es/profesionales/saludPublica/prevPromocion/cribadoNeonatal.htm Cornel M, Rigter T, Weinreich S, Burgard P, Hoffmann GF, Lindner M, et al. Newborn screening in Europe. Expert Opinion document - Evaluation of population newborn screening practices for rare disorders in Member States of the European Union. EU Tender, 28/08/2011. Vilarinho, 2010, Four years of expanded newborn screening in Portugal with tandem mass spectrometry, J Inherit Metab Dis., 33, S133, 10.1007/s10545-010-9048-z Lindner, 2011, Efficacy and outcome of expanded newborn screening for metabolic diseases--Report of 10 years from South-West Germany, Orphanet J Rare Dis., 6, 44, 10.1186/1750-1172-6-44 Karolinska University Hospital. Screening for life.2017 [consultado 10 Sep 2018]. Disponible en: http://karolinska.se/en/karolinska-university-hospital/news/2015/10/screening-for-life/ Rijksinstituut voor Volksgezondheid en Milieu, 2018 [consultado 10 Sep 2018]. Disponible en: https://www.rivm.nl/en/heel-prick/clinical-picture Lindner, 2011, Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany, Orphanet J Rare Dis., 6, 44, 10.1186/1750-1172-6-44 Asociación Española de Cribado Neonatal (AECNE) [consultado 12 Sep 2018]. Disponible en: http://aecne.es/ Società Italiana per lo studio delle Malattie Metaboliche Ereditarie e lo Screening Neonatale, 2017 [consultado 10 Sep 2018]. Disponible en: http://www.simmesn.it/ National Health Service (NHS). UK Newborn Screening Programme Centre. Newborn blood spot test. 2017 [consultado 10 Sep 2018]. Disponible en: http://newbornbloodspot.screening.nhs.uk/ Vallejo Torres L, Castilla Rodríguez I, Cuéllar Pompa L, Couce Pico ML, Pérez Cerdá C, Martín Hernández E, et al. Análisis coste-efectividad del cribado neonatal de la deficiencia de biotinidasa. Servicio Canario de la Salud, Gobierno de Canarias; 2013. Cantero Muñoz P, Puñal Riobóo J. Efectividad clínica del cribado neonatal para la detección precoz de la inmunodeficiencia combinada grave. Santiago de Compostela: Agencia Gallega para la Gestión del Conocimiento en Salud (ACIS), Unidad de Asesoramiento Científico-técnico, Avalia-t; 2018.