Neonatal cystic fibrosis screening program in the state of Paraná: evaluation 30 months after implementation

Santos, Grégor P. Chermikoski; Domingos, Mouseline T.; Wittig, Ehrenfried Othmar; Riedi, Carlos Antônio

doi:10.2223/1345

Cited by 6 publications

(6 citation statements)

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“…The frequency of CF in the present population was one in 6,675 screened newborns, a slightly higher value than that reported in a pilot study at this same center (1:8,403) involving a smaller number of babies and those reported for other Brazilian states (Paraná 1:9,520, Santa Catarina 1:8,776; Minas Gerais: 1:9,115) 22,23,24 .…”

Section: Discussioncontrasting

confidence: 65%

The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil

et al. 2020

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The Hospital of the Ribeirão Preto Medical School, University of São Paulo is one of the three screening centers in São Paulo State, Brazil, and has included a test for cystic fibrosis (CF) since February 6, 2010, by a court order. We evaluated the first five years of this CF-newborn screening program. The original immunoreactive trypsinogen (IRT)/IRT screening protocol was adopted in Brazil. A total of 173,571 newborns were screened, 1,922 (1.1%) of whom showed IRT1 ≥ 70ng/mL. Of these, 1,795 (93.4%) collected IRT2, with elevated results (IRT2 ≥ 70ng/mL) in 102 of them (5.2%). We identified a total of 26 CF cases during this period, including three CF cases that were not detected by the CF-newborn screening. The incidence of the disease among the screened babies was 1:6,675 newborns screened. Median age at the initial evaluation was 42 days, comparable to that of neonates screened with the IRT/DNA protocol. Almost all infants with CF already exhibited some manifestations of the disease during the neonatal period. The mutation most frequently detected in the CF cases was F508del. These findings suggest the early age at the beginning of treatment at our center was due to the effort of the persons involved in the program regarding an effective active search. Considering the false negative results of CF-newborn screening and the early onset of clinical manifestations of the disease in this study, pediatricians should be aware of the diagnosis of CF even in children with negative test.

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Section: Discussioncontrasting

confidence: 65%

The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil

et al. 2020

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“…In many parts of Latin America, significant progress has been made over recent years in the timely diagnosis of CF. This progress has been achieved through the implementation of pioneering neonatal screening programs (such as those in Brazil, Argentina and Mexico), dedicated CF awareness and training initiatives and increased access and use of molecular and other diagnostic tests [2,[6][7][8][9].…”

Section: Diagnosis and Screeningmentioning

confidence: 99%

Cystic fibrosis in Latin America—Improving the awareness

Filho

Castaños

Ruíz³

2016

Journal of Cystic Fibrosis

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The burden of cystic fibrosis (CF) in Latin America is being increasingly recognized and is significant compared with other regions of the world. In this short communication, we assess the current situation in some Latin American countries and make suggestions for possible directions for future focus. We discuss the work that remains in deciphering how the various genetic, environmental and medical factors interact and influence outcomes in different ethnic groups. We also consider the need for consistency in both research and access to services across Latin America, including CF registries, neonatal screening programs, access to specialized CF healthcare practitioners, transition to adult clinics and treatment regimens. Progress in these areas is likely to build on the advances to date, and improve the lives of patients in Latin America who are affected by this debilitating and life-limiting disorder.

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“…One group of authors described cases of false-negative newborn screening results despite the use of CFTR gene analysis as a screening strategy. 5 In a study evaluating the newborn screening program in the state of Paraná, Brazil, 30 months after its implementation, 11 only one case of a false-negative newborn screening result was found. In a study involving two centers for CF newborn screening in the state of São Paulo, Brazil, no false-negative results were found over a period of nearly two years.…”

Section: To the Editormentioning

confidence: 99%

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

et al. 2019

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Neonatal cystic fibrosis screening program in the state of Paraná: evaluation 30 months after implementation

Abstract: Neonatal screening for cystic fibrosis in the State of Paraná, in accordance with Health Ministry directives, was a pioneering initiative for Brazil. Many patients were diagnosed early, even asymptomatic ones, which is a challenge to improving prognosis with this fatal disease.

Cited by 6 publications

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The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil

The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil

Cystic fibrosis in Latin America—Improving the awareness

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

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