Publications by authors named "Blanca Prats Viedma"

Article Synopsis
  • In 2015, Catalonia began screening newborns for sickle cell disease (SCD) as part of its newborn screening program, introducing key treatments like penicillin and hydroxyurea.
  • A study of nearly 507,000 newborns from 2015 to 2022 found a significant decrease in age at diagnosis and earlier initiation of treatment for those screened.
  • The screened group experienced fewer SCD-related clinical issues, emergency department visits, and hospitalizations, indicating that the screening program has improved overall health outcomes for affected children.
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Pregnancy and childbirth have a great impact on women's lives; traumatic perinatal experiences can adversely affect mental health. The present study analyzes the incidence of perinatal post-traumatic stress disorder (PTSD) in Catalonia in 2021 from data obtained from the Registry of Morbidity and Use of Health Resources of Catalonia (MUSSCAT). The incidence of perinatal PTSD (1.

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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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Article Synopsis
  • Newborn screening programs have improved with tandem mass spectrometry, but false positives result in unnecessary anxiety for families due to excessive second samples.
  • Implementation of second-tier tests (2TT) in Catalonia and other international programs has been shown to significantly decrease false positive rates and increase the positive predictive value (PPV) for various diseases.
  • The use of 2TT not only improves diagnostic accuracy but also reduces the number of follow-up samples required, alleviating stress for families while lowering hospital costs and enhancing the overall efficiency of screening programs.
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Article Synopsis
  • * Protocols were modified, leading to a 36% faster arrival of second samples at the laboratory and a complete elimination of second sample requests for cystic fibrosis detection.
  • * The NSP demonstrated strong leadership during the crisis, achieving greater efficiency and successfully consolidating new processes that improved overall program outcomes.
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The Neonatal Screening Program in Catalonia from its inception fifty years ago until today, has enabled the early diagnosis and treatment of more than 2,000 newborns. In the last decade, the Program has undergone various extensions regarding its panel of diseases and has improved its evaluation with the inclusion of quality indicators in all its stages. One of the pending subjects of the screening program has been the improvement of the quality indexes related to the sample's arrival time to the laboratory after their extraction.

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