TY - JOUR
T1 - 50 años del Programa de Cribado Neonatal en Cataluña
AU - Marín Soria, Jose Luis
AU - López Galera, Rosa Mª
AU - Argudo Ramírez, Ana
AU - González de Aledo, Jose Manuel
AU - Pajares García, Sonia
AU - Navarro Sastre, Aleix
AU - Hernandez Pérez, Jose Mª
AU - Ribes Rubio, Antonia
AU - Gort Mas, Laura
AU - García Villoria, Judit
AU - Gartner Tizano, Silvia
AU - Rovira Amigo, Sandra
AU - Asensio de la Cruz, Oscar
AU - García González, Miguel
AU - Cols Roig, María
AU - Costa Colomer, Jordi
AU - Bádenas Orquin, Celia
AU - Yeste Fernández, Diego
AU - Campos Martorell, Ariadna
AU - Clemente León, María
AU - Mogas Viñals, Eduardo
AU - Ferrer Costa, Roser
AU - Giralt Arnaiz, Marina
AU - Campistol Plana, Jaume
AU - García Cazorla, Ángeles
AU - Beneitez Pastor, David
AU - Ortuño Cabrero, Ana
AU - Blanco Álvarez, Adoración
AU - Tazón Vega, Barbara
AU - Roué, Gael
AU - Velasco Puyo, Pablo
AU - Murciano Carrillo, Thais
AU - Murillo Sanjuan, Laura
AU - Díaz de Heredia Rubio, Cristina
AU - Mañú Pereira, Mª Del Mar
AU - Vives Corrons, Josep Lluis
AU - Arranz Amo, José Antonio
AU - Carnicer Cáceres, Clara
AU - Del Toro Riera, Mireia
AU - Ormazábal Herrero, Aida
AU - Artuch Iriberri, Rafael
AU - García-Volpe, Camila
AU - de Los Santos, Mariela Mercedes
AU - Sierra March, Cristina
AU - Ruiz Hernández, Carlos José
AU - Meavilla Olivas, Silvia Mª
AU - Martín Nalda, Andrea
AU - Rivière, Jacques G.
AU - Parra Martínez, Alba
AU - Soler Palacín, Pere
AU - Martínez Gallo, Mónica
AU - Colobran, Roger
AU - Casals Senent, Teresa
AU - Armelles Sebastia, Mercè
AU - Vidal Benede, Mª José
AU - Jané Checa, Mireia
AU - Fernández Bordón, Rosa Mª
AU - Asso Ministral, Laia
AU - Prats Viedma, Blanca
AU - Cabezas Peña, Carmen
N1 - Copyright:
This record is sourced from MEDLINE/PubMed, a database of the U.S. National Library of Medicine
PY - 2020/12/16
Y1 - 2020/12/16
N2 - 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.
AB - 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.
KW - 50th anniversary
KW - Catalonia
KW - Congenital hypothyroidism
KW - Cystic fibrosis
KW - Inborn errors of metabolism
KW - Newborn Screening
KW - Phenylketonuria
KW - Severe combined immunodeficiency
KW - Sickle cell disease
KW - Spain
KW - Universal
UR - http://www.scopus.com/inward/record.url?scp=85098532784&partnerID=8YFLogxK
M3 - Artículo
C2 - 33323926
AN - SCOPUS:85098532784
VL - 94
ER -