50 años del Programa de Cribado Neonatal en Cataluña

Translated title of the contribution: 50 years of the Neonatal Screening Program in Catalonia

Jose Luis Marín Soria, Rosa Mª López Galera, Ana Argudo Ramírez, Jose Manuel González de Aledo, Sonia Pajares García, Aleix Navarro Sastre, Jose Mª Hernandez Pérez, Antonia Ribes Rubio, Laura Gort Mas, Judit García Villoria, Silvia Gartner Tizano, Sandra Rovira Amigo, Oscar Asensio de la Cruz, Miguel García González, María Cols Roig, Jordi Costa Colomer, Celia Bádenas Orquin, Diego Yeste Fernández, Ariadna Campos Martorell, María Clemente LeónEduardo Mogas Viñals, Roser Ferrer Costa, Marina Giralt Arnaiz, Jaume Campistol Plana, Ángeles García Cazorla, David Beneitez Pastor, Ana Ortuño Cabrero, Adoración Blanco Álvarez, Barbara Tazón Vega, Gael Roué, Pablo Velasco Puyo, Thais Murciano Carrillo, Laura Murillo Sanjuan, Cristina Díaz de Heredia Rubio, Mª Del Mar Mañú Pereira, Josep Lluis Vives Corrons, José Antonio Arranz Amo, Clara Carnicer Cáceres, Mireia Del Toro Riera, Aida Ormazábal Herrero, Rafael Artuch Iriberri, Camila García-Volpe, Mariela Mercedes de Los Santos, Cristina Sierra March, Carlos José Ruiz Hernández, Silvia Mª Meavilla Olivas, Andrea Martín Nalda, Jacques G. Rivière, Alba Parra Martínez, Pere Soler Palacín, Mónica Martínez Gallo, Roger Colobran, Teresa Casals Senent, Mercè Armelles Sebastia, Mª José Vidal Benede, Mireia Jané Checa, Rosa Mª Fernández Bordón, Laia Asso Ministral, Blanca Prats Viedma, Carmen Cabezas Peña

Research output: Contribution to journalArticleResearchpeer-review

Abstract

The Catalonian Newborn Screening Program (CNSP) began in 1969, in Barcelona. It was promoted by Dr. Juan Sabater Tobella and supported by Barcelona Provincial Council and Juan March Foundation. That is how the Institute of Clinical Biochemistry was born, whose aims were diagnosis, research and teaching, along with the spirit of contributing to the prevention of mental retardation. The CNSP began with the detection of phenylketonuria (PKU), and, in 1982, the Program was expanded with the inclusion of congenital hypothyroidism detection. Towards 1990, the Program covered almost 100% of all newborns (NB) in Catalonia. In 1999, the CNSP was expanded with the incorporation of cystic fibrosis. It took fourteen years, until 2013, to make the largest expansion so far, with the incorporation of 19 metabolic diseases to the screening panel. The detection of sickle cell disease began in 2015 and in 2017 the detection of severe combined immunodeficiency was included. Currently, the CNSP includes 24 diseases in its main panel. Since 1969, 2,787,807 NBs have been screened, of whom 1,724 have been diagnosed with any of these diseases, and 252 of other disorders by differential diagnosis with those included in the main panel. The global prevalence is 1: 1,617 NBs affected by any of the diseases included in the CNSP and 1: 1,140 NBs if incidental findings diagnosed through the CNSP are included.

Translated title of the contribution50 years of the Neonatal Screening Program in Catalonia
Original languageSpanish
JournalRevista Espanola de Salud Publica
Volume94
Publication statusPublished - 16 Dec 2020

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