Publications by authors named "Antonia Ribes Rubio"

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.

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Article Synopsis
  • Severe combined immunodeficiency (SCID) is a critical T-cell immunodeficiency that can be detected at birth through T-cell receptor excision circles (TREC) in blood samples, allowing for faster intervention and improved life expectancy.
  • Catalonia became the first region in Spain and Europe to implement universal newborn screening for SCID in January 2017, using the EnLite Neonatal TREC kit for identification.
  • Out of 222,857 newborns screened by June 2020, three were diagnosed with SCID, while others presented various T-cell issues, demonstrating the importance of including SCID in newborn screening programs.
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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.

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Objective: Newborn screening programmes (NBSP) have experienced a qualitative breakthrough due to the implementation of tandem mass spectrometry. However, the tests used give rise to false positives (FP) generating an excessive request for second samples with the consequent anxiety of the families. In order to avoid this problem several programmes have developed second-tier tests (2TT).

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