Newborn screening for metabolic disorders in Spain and worldwide

被引:0
作者
Emilia Castineras, Daisy [1 ,2 ,3 ]
Couce, Maria-Luz [1 ,4 ,5 ,6 ]
Luis Marin, Jose [6 ,7 ,8 ]
Gonzalez-Lamuno, Domingo [9 ,10 ]
Rocha, Hugo [3 ,11 ]
机构
[1] Hosp Clin Univ Santiago de Compostela, Dept Neonatol, Inborn Errors Metab Diag & Treatment Unit, La Coruna, Spain
[2] Hosp Clin Univ Santiago de Compostela, Metab Disorder Lab, La Coruna, Spain
[3] Soc Espanola Med Lab, Comm Prenatal Diag, Barcelona, Spain
[4] Inst Invest Sanitaria Santiago de Compostela IDIS, Biomed Res Networking Ctr Consortium Rare Dis CIB, La Coruna, Spain
[5] Univ Santiago de Compostela, Sch Med, Dept Paediat, La Coruna, Spain
[6] Asociac Espanola Estudio Errores Congenitos Metab, Baracaldo, Vizcaya, Spain
[7] Hosp Clin Barcelona, Dept Biochem & Mol Genet, Newborn Screening Lab Catalonia, Barcelona, Spain
[8] Univ Barcelona, Sch Med, Dept Biomed, Barcelona, Spain
[9] Univ Cantabria, Hosp Univ Marques Valdecilla, Inst Invest Valdecilla IDIVAL, Dept Paediat, Santander, Spain
[10] AEP, SEEIM, Madrid, Spain
[11] Inst Nacl Saude Doutor Ricardo Jorge, Dept Human Genet, Neonatal Screening Metab & Genet Unit, Porto, Portugal
来源
ANALES DE PEDIATRIA | 2019年 / 91卷 / 02期
关键词
Newborn screening; Spain; Metabolic disorders; TANDEM MASS-SPECTROMETRY; INBORN-ERRORS; EUROPE;
D O I
10.1016/j.anpede.2019.05.005
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Newborn screening programs are key players in a country's public health strategies, preventing the burden of care associated with the screened disorders. Its importance has dramatically intensified in recent years due to the increasing number of disorders that fulfil criteria for screening. Since the 1960s, many countries implemented newborn screening programs that are now, at least in developed countries, universal, well established, and with excellent results. Nevertheless, much work is still to be done, mainly in developing countries of Africa, Asia, and South America. In some European countries, including Spain, uniformity of screening panels between different regions is still a challenge, being a source of health inequalities between citizens. The authors will present the current status of newborn screening programs in Spain and integrate it into the current European and world scenario. (C) 2019 Published by Elsevier Espana, S.L.U. on behalf of Asociacion Espanola de Pediatria.
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页数:14
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