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.

CFTR allelic heterogeneity in Brazil: historical and geographical perspectives and implications for screening and counseling for cystic fibrosis in this country

“…Therefore, the benefits of neonatal screening seem to be undeniable in this country. 56 On 6 June 2001, the Brazilian Ministry of Health issued the Order GM/MS No 822, which widened the coverage of neonatal screening for 100% of live births in Brazil and implemented the neonatal screening in three phases: Phase I-screening, diagnostic confirmation, monitoring and treatment of congenital hypothyroidism and phenylketonuria; Phase II-screening, diagnostic confirmation, monitoring and treatment of congenital hypothyroidism, phenylketonuria plus sickle cell disease and other hemoglobinopathies; Phase IIIscreening, diagnostic confirmation, monitoring and treatment of congenital hypothyroidism, phenylketonuria, sickle cell disease and other hemoglobinopathies plus CF. Since 2001, a program implemented by the Fundação Ecumênica de Proteção ao Excepcional do Paraná (FEPE-PR) turned CF screening a reality in the state of PR.…”

“…56 MG and SC are additional states that offer neonatal screening for CF (Phase III of NCFSP); the mean age at diagnosis was 51.4 days and 64 days, respectively, using the IRT/IRT protocol; 57,58 in SP, in a pilot study for implementation of CF screening, the mean age at diagnosis was 69 days. 59 These are states that have a population coverage higher than 80% and have diagnosed the cases expected in the region, according to the expected frequency of CF in that State (Table 4).…”

Neonatal screening for cystic fibrosis in São Paulo State, Brazil: a pilot study

“…These delayed collections, as well as laboratory routines at the screening centers before the samples were sent to Center 1 for IRT measurements, contributed to the delayed recalls for IRT2, except for the two University Hospital Centers (1 and 2) where mean and median ages were more adequate. Failure to come to the center for the 2nd collection was due to the following reasons: 1) on many occasions, the mothers although having been informed about the program, did not give consent for the 2nd collection because the child was doing well and gaining weight adequately, 2) the pediatrician failed to stimulate the second test, considering it to be unnecessary, 3) many infants could not be located, especially in the city of São Paulo, due to a change of address or incorrect telephone numbers, difficulties that have also been reported in other studies (28)(29)(30).…”

“…We have used 70.0 ng/mL, as adopted by the 3 regional programs currently active in Brazil (29,31,32). The highest sensitivity previously reported with the IRT/IRT protocol was 86-87% by using either a fixed cut-off point that would permit the recall of 1% of the infants, or a variable cut-off point based on the use of the percentile of the highest values (11,27).…”

Lola tinha uma coisa: construção de um livro educativo para crianças com fibrose cística

“…According to neonatal screening data, incidence levels in Brazil correspond to approximately 1: 8,500 liveborns (2) . As 1,787 mutations have been registered for the disease until date (3) , countless clinical forms are found.…”