Situación actual y nuevos pasos en el cribado neonatal en España

IF 1.5 4区医学 Q2 PEDIATRICS

Anales de pediatria Pub Date : 2025-03-01 DOI:10.1016/j.anpedi.2025.503775

María L. Couce , María Cernada , Hector Boix , María Dolores Sánchez-Redondo , María Gracia Espinosa Fernández , Noelia González-Pacheco , Ana Martín , Alejandro Pérez-Muñuzuri , en representación del Comité de Estándares Sociedad Española de Neonatología

{"title":"Situación actual y nuevos pasos en el cribado neonatal en España","authors":"María L. Couce , María Cernada , Hector Boix , María Dolores Sánchez-Redondo , María Gracia Espinosa Fernández , Noelia González-Pacheco , Ana Martín , Alejandro Pérez-Muñuzuri , en representación del Comité de Estándares Sociedad Española de Neonatología","doi":"10.1016/j.anpedi.2025.503775","DOIUrl":null,"url":null,"abstract":"<div><div>After more than 50 years of experience, newborn screening programs represent one of the most significant advancements in public health, particularly in pediatric and neonatal care, benefiting almost 350 000 children annually in España. Following the inclusion of congenital hearing loss screening in 2003 and screening for 7congenital diseases by newborn blood spot test in 2014 as part of the population-wide neonatal screening program of the National Health System, significant advances have been achieved in recent years. This progress is evident in the implementation of screening for critical congenital heart diseases, approved in January 2024 by the National Public Health Commission of the Interterritorial Council of the National Health System, as well as screening for congenital diseases through the newborn blood spot test, with the incorporation of new conditions enabled by advances in second-tier testing and emerging scientific evidence. Neonatologists and pediatricians must keep abreast of these developments and where the field is heading, as even more rapid progress may take place with the advent of genomic newborn screening.</div></div>","PeriodicalId":7783,"journal":{"name":"Anales de pediatria","volume":"102 3","pages":"Article 503775"},"PeriodicalIF":1.5000,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Anales de pediatria","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1695403325000104","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}

引用次数: 0

Abstract

After more than 50 years of experience, newborn screening programs represent one of the most significant advancements in public health, particularly in pediatric and neonatal care, benefiting almost 350 000 children annually in España. Following the inclusion of congenital hearing loss screening in 2003 and screening for 7 congenital diseases by newborn blood spot test in 2014 as part of the population-wide neonatal screening program of the National Health System, significant advances have been achieved in recent years. This progress is evident in the implementation of screening for critical congenital heart diseases, approved in January 2024 by the National Public Health Commission of the Interterritorial Council of the National Health System, as well as screening for congenital diseases through the newborn blood spot test, with the incorporation of new conditions enabled by advances in second-tier testing and emerging scientific evidence. Neonatologists and pediatricians must keep abreast of these developments and where the field is heading, as even more rapid progress may take place with the advent of genomic newborn screening.

查看原文本刊更多论文

西班牙新生儿筛查的现状和新步骤

经过50多年的经验，新生儿筛查规划是公共卫生领域，特别是儿科和新生儿保健领域最重大的进步之一，每年使España的近35万名儿童受益。继2003年将先天性听力损失筛查和2014年将新生儿血斑试验筛查7种先天性疾病纳入国家卫生系统全民新生儿筛查规划之后，近年来取得了重大进展。2024年1月，国家卫生系统跨地域委员会国家公共卫生委员会批准了对严重先天性心脏病的筛查，并通过新生儿血液斑点检测筛查先天性疾病，并结合二级检测的进步和新出现的科学证据所带来的新条件，这一进展是显而易见的。新生儿学家和儿科医生必须跟上这些发展和该领域的发展方向，因为随着新生儿基因组筛查的出现，可能会取得更快的进展。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Anales de pediatria 医学-小儿科

CiteScore

2.10

自引率

4.80%

发文量

155

审稿时长

44 days

期刊介绍： La Asociación Española de Pediatría tiene como uno de sus objetivos principales la difusión de información científica rigurosa y actualizada sobre las distintas áreas de la pediatría. Anales de Pediatría es el Órgano de Expresión Científica de la Asociación y constituye el vehículo a través del cual se comunican los asociados. Publica trabajos originales sobre investigación clínica en pediatría procedentes de España y países latinoamericanos, así como artículos de revisión elaborados por los mejores profesionales de cada especialidad, las comunicaciones del congreso anual y los libros de actas de la Asociación, y guías de actuación elaboradas por las diferentes Sociedades/Secciones Especializadas integradas en la Asociación Española de Pediatría.