[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.

Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia.

Objectives Hyperinsulinemic hypoglucemia (HH) is characterized by a dysregulation of insulin secretion from pancreatic ß cells. Congenital hyperinsulinism has been associated with specific genes in monogenic forms and also with other diseases with a yet unknown genetic cause. In 2017, Rubio Cabezas et al. described the association of HH and autosomal recessive polycystic kidney disease (ARPKD) with a promoter mutation in the PMM2 gene. They found that all the patients carried a promoter mutation (c-167G>T) in PMM2, either homozygous or in trans with a second PMM2 coding mutation. Methods We performed the study of the PMM2 gene in six patients from four unrelated families, previously diagnosed with ARPKD and HH. Results All these patients had in common the heterozygous variant c-167G>T in the promoter region for PMM2. Additionally, each patient carried a compound heterozygote for a second missense mutation in this gene (p.Arg141His, p.Asp148Asn or p.Phe157Ser), previously reported as pathogenic for congenital disorder of glycosylation type Ia, with an autosomal recessive inheritance pattern. Unlike the previous published article, two of our patients showed altered type 1 pattern and one of them with rectal bleeding that could be a sign of PMM2-congenital disorders of glycosylation. Conclusion We propose the study of this gene when carrying out the diagnosis of patients with HH, especially in the neonatal period and when a recessive polycystic kidney disease without alterations in PKDH1 is diagnosed.

Criterios de extracción de muestra en situaciones especiales del cribado neonatal. Revisión / Criteria for specimen collection in special situations of newborn screening. Review

La espectrometría de masas en tándem (MS-MS) ha permitido ampliar el alcance del cribado neonatal. Eso hace más complicado determinar el momento más adecuado para la toma de muestra, sobre todo en recién nacidos prematuros y/o bajo peso y/o ingresados en unidades neonatales. El objetivo del presente estudio ha sido revisar las normas de toma de muestra de los distintos programas en estas situaciones, a nivel nacional e internacional. Se obtienen los datos a través de páginas web de salud pública, de plataformas de búsqueda o por contacto con los centros. Existe gran disparidad de criterios para la toma de una nueva muestra, incluso dentro de un mismo país. La limitación de información disponible, hizo imposible obtener resultados de muchos países, en particular de África, Asia o Latinoamérica. A pesar de que cada vez más estados se acogen a las recomendaciones del Clinical and Laboratory Standards Institute u otros organismos internacionales, el aumento del coste que implica, hace muy difícil conseguir la estandarización

The most significant breakthrough in the newborn screening (NBS) programs was the introduction of the tandem mass spectrometry (MS-MS) to the laboratory, which makes it possible to detect multiple disorders. However, it is difficult to choose the ideal time for the specimen collection, particularly in preterm, low birth weight, and sick newborns. The aim of this study was to revise the protocols, in national and international programs for specimen collection in these newborns. Data were collected from web pages of public health, internet searches, and contact with the laboratories. The results showed a great disparity in criteria for a new specimen collection, as well as among different centres within a country. It has been difficult to obtain this information from many countries in Africa, Asia, and Latin America. Although an increasing number of laboratories follow the recommendations of the Clinical and Laboratory Standards Institute or other international guidelines, the increased cost involved makes standardisation difficult