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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.

Newborn screening programs for congenital diseases aim to achieve a presymptomatic and early diagnosis of treatable disorders, in order to prevent or significantly reduce morbidity and/or mortality. Many of the conditions included in these programs are inborn errors of metabolism (IEM); however, the detection of endocrine, hematological, immunological, cardiovascular diseases, and congenital hearing loss are also included in many of them. Newborn screening tests are not diagnostic and therefore additional tests are needed to confirm or exclude the suspected diagnosis. The social and professional demand of the hand of the technological advances and new therapeutic options, allow the continuous expansion of neonatal screening; This progress has a clear benefit for patients, since thanks to the early diagnosis and treatment of their disease they can have a better prognosis and a better quality of life. The inclusion criteria of the different diseases should not be evaluated exclusively in function of the moment in which the evaluation is carried out, it is necessary to apply a long-term vision of opportunity based on the strengths of the health system. Today, after 50 years of experience, we can assure that neonatal screening programs constitute one of the most significant advances that have occurred in public health, their widespread practice has been one of the great achievements in pediatric healthcare and are marking the healthcare organization of many adult units. Hand in hand with advances in genetics and genomics, newborn screening programs will continue to expand for those disorders in which early intervention can significantly modify the course of the disease.Los programas de cribado de enfermedades congénitas en los recién nacidos tienen como objetivo lograr un diagnóstico presintomático y temprano de trastornos tratables, con el fin de prevenir o reducir significativamente la morbilidad y/o mortalidad. Muchas de las condiciones incluidas en es estos programas son errores innatos del metabolismo (EIM); sin embargo, la detección de enfermedades endocrinas, hematológicas, inmunológicas, cardiovasculares, y la hipoacusia congénita también se incluyen en muchos de ellos. Las pruebas de detección de recién nacidos no son diagnósticas y, por tanto, se necesitan pruebas complementarias para confirmar o excluir la sospecha diagnóstica. La demanda social y profesional de la mano de los avances tecnológicos y de nuevas opciones de tratamiento, permiten la expansión continua del cribado neonatal; este progreso conlleva un claro beneficio para los pacientes, pues gracias al diagnóstico y al tratamiento precoz de su enfermedad pueden tener un mejor pronóstico y una mejor calidad de vida. Los criterios de inclusión de las diferentes enfermedades no deben ser valorados exclusivamente con el prisma del momento en que se realiza la evaluación, es necesario aplicar una visión de oportunidad a largo plazo basada en las fortalezas del sistema sanitario. Hoy en día, tras 50 años de recorrido, podemos asegurar que los programas de cribado neonatal constituyen uno de los avances más significativos que se han producido en salud pública, su práctica generalizada ha significado uno de los grandes logros asistenciales en pediatría y están marcando la organización asistencial de muchas unidades de adultos. De la mano de los avances en genética y genómica, los programas de cribado del recién nacido continuarán expandiéndose para aquellos trastornos en los que una intervención temprana pueda modificar significativamente el curso de la enfermedad.

Patients with Glutaric aciduria type 1 (GA-1) can be identified by newborn screening using tandem mass spectrometry. The clinical evolution of screened patients seems to be more favourable compared with those diagnosed later, although long-term evolution is still doubtful. We have evaluated the outcome in nine GA-1 patients diagnosed in our region during 12 years. Six were detected by newborn screening and 3 clinically. The birth prevalence was 1:35,027. High blood C5DC concentration, in 8/9 patients, was found, whereas all patients exhibited high concentration of this metabolite in urine. Therefore, urine C5DC was a good marker for the detection of this disease. Eight different mutations in the GCDH gene were identified, four of them were novel (p.R88H, p.Y398C, p.R372K, p.D220N); being p.R227P the mostcommon. Macrocephaly with enlarged frontotemporal subarachnoid space was present in 4/6 patients diagnosed by newborn screening, all these patients required high energy intake, and in two cases, enteral feeding during the first year of life was needed. One child had an intercurrent episode of feeding refuse with hypoglycemia at two years of age. The mean follow-up time of screened patients was 56 months, and patients still remain asymptomatic. However, after a mean follow-up of 97 months treatment efficacy was poor in unscreened patients, two of them showing a severe spastic tetraparesis. Plasma levels of lysine, tryptophan and carnitine, were the most useful biomarkers for the follow-up. Our data support that, early diagnosis and treatment strategies are essential measures for the good clinical evolution of GA-1 patients.

Background: Inborn errors of metabolism (IEM) have greater repercussions in neonatology units. The goal of our study was to evaluate the impact of IEM in a neonatology unit and the outcome of these neonates. Methods: All patients with IEM admitted in our unit were evaluated during an 8-year period for specific diagnosis, clinical features, therapy and long-term neurodevelopment. Results: The study group was comprised of 31 infants, 18 of which required admission to the neonatal intensive care unit (NICU) (1.63% of income) due to severe symptoms. Twenty-two of the 31 had an earlier diagnosis and treatment due to expanded newborn screening, made from the third day of life. The most frequent diagnosis in the NICU, representing 66.66% (12/18), was diseases that cause an endogenous intoxication. Despite the diagnosis by tandem mass spectrometry, many of these patients had severe clinical symptoms prior to the screening results. Aggressive support was often necessary (extracorporeal removal therapy, mechanical ventilation). Death occurred generally in the first year of life (5/6). The death rate in the NICU was 10.3%. The survivors presented higher scores on the Psychomotor Development Index if the diagnosis of the disease was either made or helped by screening. This also depends on the type of disease. Conclusion: Earlier diagnosis by expanded newborn screening and earlier treatment is essential in order to be able to prevent neurological sequelae.

Newborn screening (NBS) by tandem mass spectrometry started in Galicia (Spain) in 2000. We analyse the results of screening and clinical follow-up of inborn errors of metabolism (IEM) detected during 10 years. Our programme basically includes the disorders recommended by the American College of Medical Genetics. Since 2002, blood and urine samples have been collected from every newborn on the 3rd day of life; before then, samples were collected between the 5th and 8th days. Newborns who show abnormal results are referred to the clinical unit for diagnosis and treatment. In these 10 years, NBS has led directly to the identification of 137 IEM cases (one per 2060 newborns, if 35 cases of benign hyperphenylalaninemia are excluded). In addition, 33 false positive results and 10 cases of transitory elevation of biomarkers were identified (making the positive predictive rate 76.11%), and 4 false negative results. The use of urine samples contributed significantly to IEM detection in 44% of cases. Clinical symptoms appeared before positive screening results in nine patients (6.6%), four of them screened between days 5 and 8. The death rate was 2.92%; of the survivors, 95.5% were asymptomatic after a mean observation period of 54 months, and only two had an intellectual/psychomotor development score less than 85. Compared to other studies, a high incidence of type I glutaric aciduria was detected, one in 35,027 newborns. This report highlights the benefits of urine sample collection during screening, and it is the first study on expanded newborn screening results in Spain.

Inborn errors of metabolism (IEM) have greater repercussions in neonatology units. The goal of our study was to evaluate the impact of IEM in a neonatology unit and the outcome of these neonates.All patients with IEM admitted in our unit were evaluated during an 8-year period for specific diagnosis, clinical features, therapy and long-term neurodevelopment.The study group was comprised of 31 infants, 18 of which required admission to the neonatal intensive care unit (NICU) (1.63% of income) due to severe symptoms. Twenty-two of the 31 had an earlier diagnosis and treatment due to expanded newborn screening, made from the third day of life. The most frequent diagnosis in the NICU, representing 66.66% (12/18), was diseases that cause an endogenous intoxication. Despite the diagnosis by tandem mass spectrometry, many of these patients had severe clinical symptoms prior to the screening results. Aggressive support was often necessary (extracorporeal removal therapy, mechanical ventilation). Death occurred generally in the first year of life (5/6). The death rate in the NICU was 10.3%. The survivors presented higher scores on the Psychomotor Development Index if the diagnosis of the disease was either made or helped by screening. This also depends on the type of disease.Earlier diagnosis by expanded newborn screening and earlier treatment is essential in order to be able to prevent neurological sequelae.