Analysis of national coverage of neonatal cystic fibrosis screening in Brazil from 2008 to 2017

Sadigurschi, Gabriela; Micherino, Bianca Vaz; Barbosa, Maria Tereza Serrano; Paiva, Cláudia N.; Sá, Gloria Regina da Silva e

doi:10.1080/14767058.2021.1875443

Cited by 3 publications

(4 citation statements)

References 13 publications

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“…Recent studies have reviewed the progress of screening for various conditions, patient outcomes, and related topics: cost effectiveness, screening equity, and program expansion. Program progress studies have focused on CAH [ 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 ].…”

Section: Resultsmentioning

confidence: 99%

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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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Section: Resultsmentioning

confidence: 99%

“…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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“…reported poor newborn CF screening coverage in Brazilian states with a low economic development level, with a mean coverage of 12.3% for the northeast and 10.9% for the north compared to 100% for the southern states and the Federal District. 16 These data highlight the unequal coverage in Brazil, with poorer coverage in areas with fewer financial and social resources. Nevertheless, although the period of analysis was different, the present study showed that NBS coverage exceeds that previously reported for northeastern Brazil.…”

Section: Discussionmentioning

confidence: 98%

“…The incidence of 1:20,767 is much lower than that found in other Brazilian regions and in other countries. 11 , 16 , 25 This lower incidence can reflect both ethnic characteristics of the population and the ineffective coverage of the program, which can underestimate the real incidence. Moreover, the short time of the assessment (five years) is not enough to determine this measure precisely.…”

Section: Discussionmentioning

confidence: 99%

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

Godoy

Paixão

Boa‐Sorte

et al. 2023

Jornal de Pediatria

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IRT/IRT as a newborn cystic fibrosis screening method: optimal cutoff points for a mixed population

Godoy,

Brito,

Amorim

et al. 2024

Cad. Saúde Pública

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The Brazilian Unified National Health System (SUS) has incorporated newborn screening for cystic fibrosis since 2001. The protocol involves two samples of immunoreactive trypsinogen (IRT1/IRT2). This study aims to analyze fixed and floating values at the first and second IRT (IRT1/IRT2) cutoff points and assess the accuracy of the IRT/IRT methodology in a population from Northeastern Brazil. Descriptive, individual-level data from the newborn screening reference service data system (2013-2017) were used in this observational population study. The sensitivity, specificity, and positive predictive values (PPV) for the protocol were calculated. The best cutoff point was determined using the Youden’s index. The previous year’s cut-off values for the IRT1 and IRT2 99.4-, 99.5-, 99.6-, and 99.7-percentiles were utilized for the floating cutoff. During the studied period, 840,832 newborns underwent screening for cystic fibrosis, obtaining 49 cystic fibrosis diagnoses: 39 by newborn screening (79.6%) and 10 (20.4%) by clinical suspicion (false negative). The sensitivity, specificity, and PPV of the protocol totaled 79.6%, 99.9%, and 6.1%, respectively. No proposed cutoff for IRT1 performed better than the current one. IRT2 performed similarly to the current protocol at a cutoff point of 90ng/mL, showing the appropriate sensitivity and specificity while reducing the frequency of false positives. The protocol to screen newborns for cystic fibrosis had low sensitivity, a predictive positive value, and a high number of false positives and negatives. A floating cut point for IRT1 or IRT2 seems to constitute no viable option. However, changing the IRT2 cut point from 70ng/mL to 90ng/mL seems to have advantages and should undergo consideration.

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Analysis of national coverage of neonatal cystic fibrosis screening in Brazil from 2008 to 2017

Cited by 3 publications

References 13 publications

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

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

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

IRT/IRT as a newborn cystic fibrosis screening method: optimal cutoff points for a mixed population

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