Percorrer por autor "Freitas, Cristina"
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- Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic StudiesPublication . Marcão, Ana; Barreto, Celeste; Pereira, Luísa; Vaz, Luísa; Cavaco, José; Casimiro, Ana; Félix, Miguel; Silva, Teresa; Barbosa, Telma; Freitas, Cristina; Nunes, Sidónia; Felício, Verónica; Lopes, Lurdes; Amaral, Margarida; Vilarinho, LauraNewborn screening (NBS) for cystic fibrosis (CF) has been shown to be advantageous for children with CF, and has thus been included in most NBS programs using various algorithms. With this study, we intend to establish the most appropriate algorithm for CF-NBS in the Portuguese population, to determine the incidence, and to contribute to elucidating the genetic epidemiology of CF in Portugal. This was a nationwide three-year pilot study including 255,000 newborns (NB) that were also screened for congenital hypothyroidism (CH) and 24 other metabolic disorders included in the Portuguese screening program. Most samples were collected in local health centers spread all over the country, between the 3rd and 6th days of life. The algorithm tested includes immunoreactive trypsinogen (IRT) determination, pancreatitis associated protein (PAP) as a second tier, and genetic study for cases referred to specialized clinical centers. Thirty-four CF cases were confirmed positive, thus indicating an incidence of 1:7500 NB. The p.F508del mutation was found in 79% of the alleles. According to the results presented here, CF-NBS is recommended to be included in the Portuguese NBS panel with a small adjustment regarding the PAP cut-off, which we expect to contribute to the improvement of the CF-NBS performance. According to our results, this algorithm is a valuable alternative for CF-NBS in populations with stringent rules for genetic studies.
- Evaluating the Impact of Newborn Screening for Cystic Fibrosis in Portugal: A Decade of Insights and OutcomesPublication . Camacho, Bernardo; Pereira, Luísa; Bragança, Raquel; Castanhinha, Susana; Penteado, Raquel; Silva, Teresa Reis; Miragaia, Pedro; Silva, Sónia; Cardoso, Ana L.; Barbosa, Telma; Freitas, Cristina; Gonçalves, Juan; Marcão, Ana; Vilarinho, Laura; Barreto, Celeste; Constant, CarolinaThe implementation of newborn screening (NBS) has revolutionized the diagnostic landscape of cystic fibrosis (CF). In Portugal, NBS was initiated in October 2013 through a pilot study and was subsequently fully integrated into a nationwide program by December 2018. Infants with positive screening results are referred to a specialized CF reference center for diagnostic confirmation, employing Sweat Chloride Testing (SCT) and genetic testing for CFTR variants. We aimed to analyze infants with a positive CF screening and determine the false positive and false negative rates, as well as to calculate the positive predictive value and sensitivity of our NBS program. A retrospective nationwide analysis was conducted on infants with a positive NBS for CF between October 2013 and February 2023. Two hundred and forty infants were referred from the NBS program; 74 (30.8%) were confirmed to have CF through SCT and genetic testing. Sensitivity was 93.2%, and the positive predictive value (PPV) was 30.8%. In addition, 48.5% were homozygous for F508del variants, and 87.8% had at least one F508del variant. Guidelines set forth by the European Cystic Fibrosis Society advise NBS programs to achieve a minimum PPV of 30% and a minimum sensitivity of 95%. Our report demonstrated good compliance with these recommendations.
- Nirsevimab Effectiveness Against RSV-Related Hospitalisations in Children Under 24 Months: A Test-Negative Case-Control Study in Portugal, 2024-2025Publication . Gaio, Vânia; Henriques, Camila; Lança, Miguel; Marques, Rita; Marques, Raquel; Rodrigues, Marta; Almeida, Sofia; Sousa, Beatriz; Freitas, Margarida; Amaral, Diana; Ferreira, Sara; Azevedo, Inês; von Hafe, Madalena; Gonçalves, Rafaela; Viseu, Regina; Bandeira, Teresa; Constant, Carolina; Malato, Madalena; Carvalho, Inês; Rodrigues, Jorge; Farinha, Margarida; Nunes, Teresa; Graça, Teresa; Gomez, Sofia; Soares, Sara; Neves, João Farela; Paixão, Paulo; Piscalho, Inês; Loureiro, Ana; Freitas, Cristina; Alves, José; Soares, Diana; Lopes, Paulo; Machado, Ausenda; Guiomar, Raquel; Rodrigues, Ana Paula; VigiRSV GroupWe assessed Nirsevimab effectiveness (NE) against respiratory syncytial virus (RSV)-related hospitalisation in eligible children (< 2 years) using a test-negative case-control design within the VigiRSV network (weeks 43/2024 to 16/2025). Among 341 participants (median age: 2 months; 91.2% without known chronic condition), 137 (40.2%) tested RSV-positive. Adjusted NE against RSV-related hospitalisation was 78.5% (95%CI: 59.3-89.0). Sensitivity analyses confirmed the robustness of the results. These findings support Nirsevimab's effect in a predominantly healthy infant population and contribute to informing public health decisions for RSV immunisation.