Triagem neonatal de fibrose cística

Esperon, Luiz Carlos

doi:10.1590/s0021-75572003000200016

Cited by 1 publication

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“…The program uses IRT levels as a screening method, with two measurements taken, the second within 30 days of birth. However, the specificity of this test is low, ranging from 32% to 74% depending on the cutoff levels used by different laboratories [19]. To confirm or exclude the presence of cystic fibrosis, both positive screening tests are followed by a sweat test.…”

Section: Introductionmentioning

confidence: 99%

Newborn Cystic Fibrosis Diagnosis Made Accurate and Efficient with Machine Learning to Reduce False Positives in IRT-Trypsinogen Immunoreactive Screening Program

Custódio,

Klausner,

de Almeida

2023

Preprint

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This paper presents a methodology for developing a predictive model using random forests to identify true positive cases of cystic fibrosis in neonatal screening, aiming to improve early detection and care for patients. The current heel prick test used in Brazilian neonatal screening has a high incidence of false positives, leading to unnecessary anxiety and medical interventions for patients and their families. Our methodology, developed using synthetic data and varied model parameters, showed promising results in improving the sensitivity of the model for identifying true positive cases. Our methodology prioritizes sensitivity in the model and uses general indices from the neonatal screening laboratory APAE in São Luís do Maranhão. In conclusion, our approach offers a promising avenue for developing a predictive model for cystic fibrosis in neonatal screening and highlights the potential benefits of improving early detection and care for patients.

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Section: Introductionmentioning

confidence: 99%