Abstract
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.
Highlights
Cystic fibrosis (CF) is a hereditary autosomal recessive disease with an incidence ranging from 1:2,000 to 1:10,000 among Caucasians in several countries [1,2,3]
From February 2010 to January 2015, 176,562 births occurred according to the Brazilian Information System on Live Births (SINASC) and 173,571 newborn were subjected to the NBS test at HCFMRPUSP
176,562 births occurred according to the System of Information about Liveborns (SINASC) and 173,571 NB were screened at HCFMRP-USP, demonstrating excellent program coverage (98.3%)
Summary
Cystic fibrosis (CF) is a hereditary autosomal recessive disease with an incidence ranging from 1:2,000 to 1:10,000 among Caucasians in several countries [1,2,3]. CF is associated with changes in the ion transport regulatory transmembrane protein (CFTR – cystic fibrosis transmbrane regulatory), which, among other functions, acts as a chloride channel that carries this ion out of the cell 6. The original IRT/IRT screening protocol was adopted in Brazil in view of the ethnic heterogeneity of the Brazilian population and the need to investigate various mutations, despite the known large number of false-positive results [12,13] which induce unnecessary anxiety in the parents until the diagnosis of CF can be ruled out
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