Five-year performance analysis of a cystic fibrosis newborn screening program in northeastern Brazil

Godoy, Carolina; Paixão, Danielle C.; Boa‐Sorte, Ney; Amorim, Tatiana; Filho, Luiz Vicente Ribeiro Ferreira da Silva; Souza, Edna Lúcia

doi:10.1016/j.jped.2022.04.002

Cited by 6 publications

(10 citation statements)

References 19 publications

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“…The prior study cited previously revealed comparable problems and advocated effective strategies to overcome these obstacles. 6 This case series found that the median time taken to analyze IRT1 samples was 8.5 days, with 7/14 samples (50%) collected after 10 days of life, of which one was collected after 30 days of life. Environmental factors such as the state of Bahia's high average temperature and the timing between sampling and analysis might just have contributed to false-negative reports.…”

Section: Discussionmentioning

confidence: 81%

“…14 A large project of our research group utilizing data from the first five years of CF NBS Bahia State revealed that only 76.4% of the infants who tested positive for IRT1 were retested. 6 These data clearly show the difficulties involved in obtaining a second IRT measurement, particularly in a state as large as Bahia, highlighting the errors made in following up on these cases.…”

Section: Discussionmentioning

confidence: 88%

“…The study is part of a major project entitled "Neonatal screening for cystic fibrosis in the state of Bahia, Brazil: evaluation of the first five years", which part of the data has already been published. 6…”

Section: Introductionmentioning

confidence: 99%

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Cystic fibrosis: when neonatal screening is unsatisfactory for early diagnosis

Godoy,

Radel,

Mota

et al. 2024

Rev. Bras. Saude Mater. Infant.

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Introduction: cystic fibrosis newborn screening must enable its earlier diagnosis, which may enhance outcomes. This study was a series case of delayed-diagnosis children submitted to cystic fibrosis newborn screening. Description: fourteen children were included; eight (57.1%) were due to false-negative screening, while six (42.9%) were due to processing errors. Two samples collected after 30 days of life were incorrectly classified as negative, and four infants with a positive test could not be located due to screening processing errors. Cystic fibrosis diagnosis was confirmed at a median (IQR) age of 5.3 (4.2-7.4) months. Poor nutritional status was the most prevalent clinical sign at diagnosis, being present in 78.6% of infants. The mean (SD) weight-for-length and length-for-age Z-scores were -3.46 (0.84) and -3.99 (1.16), respectively. Half of the children had Pseudo-Bartter syndrome, and 42.9% had breathing difficulties. Twelve children (85.7%) required hospitalization, with a median (IQR) length of stay of 17.0 (11.5-26.5) days. Discussion: newborn screening had some faults, from incorrect collections to inefficient active search. Early identification of these children in which screening was unsatisfactory is essential, emphasizing the importance and efforts to not miss them. In the case of a failed test, healthcare professionals must be prepared to recognize the main symptoms and signs of the disease.

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Section: Discussionmentioning

confidence: 81%

Section: Discussionmentioning

confidence: 88%

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Cystic fibrosis: when neonatal screening is unsatisfactory for early diagnosis

Godoy,

Radel,

Mota

et al. 2024

Rev. Bras. Saude Mater. Infant.

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“…[6] The mental health coordination of the municipality of Marília, in the state of São Paulo, reported that in 2021 there were 23 deaths from suicide. [7] We thus arrive at a suicide mortality rate of 9.5/100,000 in Marília. This number is almost double the average for the state of São Paulo and configures an epidemic context with an increase of 297.37% in incidence from 2016 to 2023.…”

Section: Introductionmentioning

confidence: 87%

Suicide Epidemic in a Medium-Sized City in Brazil Reveals Itself as a Youth Problem: A Survey

RUBATINO RODRIGUES,

Rodrigues,

Rubatino

et al. 2024

Preprint

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Contrary to what has been happening in most countries in the world, suicide mortality in Brazil has been increasing since 2016. To identify the epidemiological profile that may be associated with this increase in suicidal behavior in the population, we looked for a city with low rates of suicide mortality until 2016 and in which had a detectable growing epidemic wave in recent years to better elucidate the issue. This study aims to identify factors associated with suicidal ideation, suicidal planning, suicide attempts, and suicide.A validated questionnaire was used - Kaiser-Meyer-Olkin index (KMO) = .86 (acceptable greater than .7) and intraclass correlated coefficient (ICC) = .98 (acceptable greater than .9). Data collected was obtained by sampling for the convenience of the online questionnaire with a minimum sample of 400 respondents. The general population of Marília’s city, a medium-sized city in São Paulo state of Brazil, voluntarily responded to the questionnaire. Prevalence data was described in ratios and incidence was described in tables. The association was measured by factor analysis. The state government's data information platform (DataSUS) was consulted to verify the incidence of suicides from 2016 to 2023. The prevalence ratio of suicide attempts in people with mental disorders was 8.09%. There was a 600% increase in the incidence of suicide from 2016 to 2023 among young adults. Interpersonal problems were highly prevalent in people with suicidal ideation, suicidal planning, and suicide attempts. Heroism appears to be a suicidal equivalent and may be associated with most young deaths. Heroic behavior demonstrated a prevalence of 66.1% for committing tragic suicide. We get c2 of 31.4 for 18 degrees of freedom (p=0.026) of 10 representative variables in factor analysis with eight of the 10 variables demonstrating an association for one component. The young population has demonstrated epidemically growing suicide rates. Social segregation can affect young people's social lives and increase suicidal behavior.

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“…Argentina-The progression of genetics and NBS in Argentina has recently been reviewed [1132][1133][1134] [1143,1145], HGB [1146][1147][1148], and CF [1149][1150][1151]. Outcome studies have targeted patients with CH [1152][1153][1154], PKU [1155], GAL [1156], MSUD [1157], and BIO [1158,1159].…”

mentioning

confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.

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Five-year performance analysis of a cystic fibrosis newborn screening program in northeastern Brazil

Cited by 6 publications

References 19 publications

Cystic fibrosis: when neonatal screening is unsatisfactory for early diagnosis

Cystic fibrosis: when neonatal screening is unsatisfactory for early diagnosis

Suicide Epidemic in a Medium-Sized City in Brazil Reveals Itself as a Youth Problem: A Survey

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

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