[Beginnings, evolution and current situation of the Newborn Screening Programs in Spain.] / Inicio, evolución y situación actual de los Programas de Cribado Neonatal en España.

Newborn Screening Programs (NSP) in Spain were born in the city of Granada in 1968. Till the 1980s, they were developed around the so-called "National Plan for Preventing Subnormality", covering up to 30% of the Spanish newborns. From 1982, when the health system management was transferred to the different autonomous regions, the NSP began to expand, and the bases to transform them into an organized and multidisciplinary activity, integrated and coordinated from the National Health System were settled. Despite this expansion, it is not until the 1990s when their coverage reaches almost 100% newborns in Spain. NSP grew up asymmetrically across the different autonomous regions. In 2005 and 2006 the scientific societies SEQC (Spanish Society of Clinical Chemistry) and AECNE (Spanish Society of Newborn Screening), coordinated by the Health Promotion Area of the General Directorate of Public Health, gathered together the necessary information to elaborate a report on the NSP in Spain addressed to the Interterritorial Council of the National Health System. In July 2013, that Council approved the seven diseases that should be part of each region newborn screening panel, being the first step towards the NSP harmonization in Spain. Currently, the NSP include between 8 and 29 diseases in their panels, thus more still more efforts are needed in order to achieve a higher uniformity.

Los Programas de Cribado Neonatal (PCN) nacen en España en Granada en el año 1968. Posteriormente, y hasta los años 80, se fueron desarrollando en torno al llamado "Plan Nacional de Prevención de la Subnormalidad" con una cobertura cercana al 30% de los recién nacidos españoles. A partir de 1982, con el inicio de la gestión de la sanidad a las comunidades autónomas (CCAA), los PCN se expandieron y se comenzaron a sentar las bases para que éstos se convirtieran en una actividad organizada y multidisciplinar, integrados y coordinados desde el Sistema de Salud. A pesar de dicha expansión no es hasta el inicio de la década de los 90 cuando se consigue una cobertura próxima al 100% de los RN en España. Los PCN fueron creciendo de forma muy asimétrica en las diferentes CCAA y en los años 2005 y 2006 las Sociedades Científicas SEQC (Sociedad Española de Química Clínica) y AECNE (Asociación Española de Cribado Neonatal), con la coordinación del Área de Promoción de la Salud de la Dirección General de Salud Pública, recopilaron la información y elaboraron un informe, sobre los PCN en España para el Consejo Interterritorial del sistema Nacional de Salud (CISNS). En julio de 2013 este Consejo aprobó las siete enfermedades que debían formar parte del panel de detección de los PCN territoriales, primer paso hacia la armonización de estos programas. Actualmente, los PCN incluyen entre 8 y 29 enfermedades por lo que es necesario seguir trabajando para conseguir una mayor uniformidad.

Challenges in screening for congenital hypothyroidism: Optimization of thyrotropin cut-off values.

BACKGROUND-AIM: Different protocols exist for newborn screening of congenital hypothyroidism (CH) worldwide, with different thyrotropin cut-off values for repetition and confirmation tests. This study aimed to assess local protocol in terms of specificity and improve our screening process by optimizing thyrotropin cut-off values. Subsequently, the cut-off values obtained were retrospectively applied to evaluate the number of tests avoided. METHODS: Retrospective observational study between 2013 and 2019. All newborn children with a confirmation test for CH were considered for the study. ROC curve analysis was performed for thyrotropin cut-off value optimization in DBS which triggers a confirmatory test, and odds ratios were calculated. For individuals affected by the cut-off value modification, serum thyrotropin and free thyroxine in the confirmation test were analyzed for consideration of clinical outcomes. RESULTS: A total of 72,133 newborn children were screened for CH, and 208 individuals were included in the study. Incidence in our population was 1:2,000 live births. The area under the ROC curve was 0.819 (CI 95%: 0.748-0.897). While the current cut-off value (thyrotropin ≥ 10mIU/L) had a specificity of 31.8% [ORs: 3.5 (CI 95%: 1.4-8.8)], the optimal cut-off value (thyrotropin ≥ 15mIU/L) yielded a specificity of 92.4% for the detection of CH and transient hypothyroidism [ORs: 15.9 (CI 95%: 7.1-35.8)], with no loss of sensitivity. DISCUSSION: While keeping a maximum sensitivity, optimization of cut-off values may be of great use not only in management, but also in reducing family stress, which is of special relevance for the newborn.