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Cystic fibrosis and neonatal screening
Roberta Rodrigues1, Carmen S Gabetta, Karla P Pedro
1Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, Brasil.
Cadernos De Saude Publica
|September 18, 2008
Summary
Neonatal screening for cystic fibrosis (CF) is increasingly supported, despite historical controversy. Challenges in Brazil include diverse ethnic backgrounds and a lack of specific tests for this common hereditary disease.
Area of Science:
- Medical Genetics
- Pediatrics
- Public Health
Background:
- Cystic fibrosis (CF) is a prevalent autosomal recessive hereditary disease in Caucasians, with over 1,000 identified mutations.
- The most common mutation, F508, shows significant prevalence variations across different ethnic groups.
- The fundamental defect in CF involves impaired chloride ion secretion.
Purpose of the Study:
- To systematically review the clinical and diagnostic aspects of cystic fibrosis.
- To emphasize the current status and controversies surrounding neonatal screening for CF.
Main Methods:
- A systematic literature review was conducted.
- Searches were performed in the PubMed and SciELO databases for relevant contributions.
Main Results:
- Cystic fibrosis has historical references dating back to the Middle Ages.
- Despite decades of debate, few nationwide neonatal screening programs exist, though regional and local programs are more common.
- The U.S. Centers for Disease Control and Prevention (CDC) now supports CF screening.
Conclusions:
- Neonatal screening for cystic fibrosis is considered justified by major health organizations.
- Implementing effective screening programs in ethnically diverse populations, such as Brazil, presents challenges due to genetic heterogeneity and the absence of a universally specific screening test.