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

The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil. Cad Saude Publica. 2020;36(10):e00049719 Authors: Maciel LMZ, Magalhães PKR, Ciampo IRLD, Sousa MLB, Fernandes MIM, Sawamura R, Bittar RR, Molfetta GA, Silva Júnior WAD 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 ...
Source: Cadernos de Saude Publica - Category: International Medicine & Public Health Authors: Tags: Cad Saude Publica Source Type: research