False-negative newborn screening result for immunoreactive trypsinogen: a major problem in children with chronic lung disease

Lumertz, Magali Santos; Rispoli, Thaiane; Rosa, Katiana Murieli da; Pinto, Leonardo Araújo

doi:10.1590/1806-3713/e20180062

Cited by 7 publications

(4 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…27 Sherman et al 28 found F508del as the most common mutation in their study comparing 86 patients with positive NBS and 45 patients without NBS, and their frequency was 24% and 44%, respectively. Lumertz et al 29 reported two patients with normal NBS and homozygous F508del mutation. One of these patients was diagnosed early with meconium ileus, but in follow up, pancreatic insufficiency and chronic S. aureus infection had appeared.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Clinical findings of patients with cystic fibrosis according to newborn screening results

Gürsoy

Aslan

Asfuroglu

et al. 2022

Pediatrics International

View full text Add to dashboard Cite

Background Cystic fibrosis (CF) is a lethal recessive genetic disease caused by loss of function associated with mutations in the CF trans‐membrane conductance regulator. It is highly prevalent (approximately 1 in 3,500) in Caucasians. The aim of this study was to compare demographic and clinical features, diagnostic tests, treatments, and complications of patients with CF whose newborn screening (NBS) with twice‐repeated immune reactive trypsinogen testing was positive, normal, and not performed. Methods In this study, 359 of all 1,488 CF patients recorded in the CF Registry of Turkey in 2018, who had been born through the process of NBS, were evaluated. Demographic and clinical features were compared in patients diagnosed with positive NBS (Group 1), normal (Group 2), or without NBS (Group 3). Results In Group 1, there were 299 patients, in Group 2, there were 40 patients, and in Group 3, there were 20 patients. Among all patients, the median age at diagnosis was 0.17 years. The median age at diagnosis was higher in Groups 2 and 3 than in Group 1 (P = 0.001). Fecal elastase results were higher in Group 2 (P = 0.033). The weight z‐score was lower and chronic Staphylococcus aureus infection was more common in Group 3 (P = 0.017, P = 0.004, respectively). Conclusions Frequency of growth retardation and chronic S. aureus infection can be reduced with an early diagnosis using NBS. In the presence of clinical suspicion in patients with normal NBS, further analyses such as genetic testing should be performed, especially to prevent missing patients with severe mutations.

show abstract

Section: Discussionmentioning

confidence: 99%

“…found F508del as the most common mutation in their study comparing 86 patients with positive NBS and 45 patients without NBS, and their frequency was 24% and 44%, respectively. Lumertz et al 29 . reported two patients with normal NBS and homozygous F508del mutation.…”

Section: Discussionmentioning

confidence: 99%

Clinical findings of patients with cystic fibrosis according to newborn screening results

Gürsoy

Aslan

Asfuroglu

et al. 2022

Pediatrics International

View full text Add to dashboard Cite

show abstract

“…In a screening, what is most desired is to reduce the number of these erroneous results. In the literature, there are more factors associated with false positives than negative ones, these erroneous results can cause psychosocial impacts on the newborn's family due to the concern with the false positive diagnosis [4]. The delay of the correct diagnosis due to inaccurate results makes the nutritional treatment that provides the patient's survival to be delayed since the time to have the diagnosis is one of the factors that lead to malnutrition in patients with Cystic fibrosis.…”

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

View full text Add to dashboard Cite

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.

show abstract

“…DA SAÚDE, 2016;LUMERTZ et al, 2019). Os falso-negativos impedem o diagnóstico precoce das doenças triadas, já os falso-positivos podem causar ansiedade aos genitores (LEÃO; AGUIAR, 2008).…”

unclassified

Triagem neonatal em crianças na região do médio paraíba: uma análise preliminar

et al. 2021

View full text Add to dashboard Cite

O Programa Nacional de Triagem Neonatal (PNTN) consiste no rastreamento de recém-nascidos com o intuito de identificar doenças congênitas de forma precoce. As doenças rastreadas são fenilcetonúria, hipotireoidismo congênito, doença falciforme e outras hemoglobinopatias, fibrose cística, hiperplasia adrenal congênita e deficiência da biotinidase. Assim, é de extrema importância para o diagnóstico e tratamento precoce de diversas doenças, reduzindo morbimortalidade. O objetivo é analisar a situação do PNTN em Volta Redonda – RJ. Estudo transversal com coleta de dados consolidada através da aplicação de formulários de março a dezembro de 2019. A seleção da amostra foi feita de maneira aleatória simples com crianças de 0 a 9 anos acompanhadas nos serviços da rede pública de saúde - SUS. Foram totalizados 222 formulários. Desses, 18% tiveram o resultado da triagem anotado na caderneta de saúde, 73% não foram anotados, 8% estavam aguardando resultado e 1% não respondeu ao questionamento. Das 18 crianças (8%) que aguardavam o teste, 83% ultrapassaram o prazo indicado para a entrega do resultado. Dentre as 204 crianças que haviam recebido o resultado do teste, 2% possuíam alterações, reforçando a importância do PNTN como ação preventiva. Ademais, foi possível identificar que 73% dos sujeitos de pesquisa não tiveram o resultado do teste anotado na caderneta da saúde. Necessita-se de uma amostra maior para calcular a incidência das patologias pesquisadas, entretanto, quando levado em consideração o prazo para entrega do resultado, observou-se que uma parcela expressiva não o recebeu no tempo adequado. Em relação ao preenchimento da caderneta de saúde da criança, o resultado se apresentou insuficiente, sendo aquém do almejado.

show abstract

False-negative newborn screening result for immunoreactive trypsinogen: a major problem in children with chronic lung disease

Cited by 7 publications

References 13 publications

Clinical findings of patients with cystic fibrosis according to newborn screening results

Clinical findings of patients with cystic fibrosis according to newborn screening results

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

Triagem neonatal em crianças na região do médio paraíba: uma análise preliminar

Contact Info

Product

Resources

About