Evaluation of a neonatal screening program for sickle-cell disease

Area of Science:

• Public Health
• Pediatrics
• Genetics

Background:

• Sickle-cell disease (SCD) is a significant public health concern.
• Neonatal screening programs are crucial for early detection and management of SCD.
• Evaluating program effectiveness is essential for optimizing public health interventions.

Purpose of the Study:

• To assess the coverage and disease frequency of the Neonatal Screening Program for sickle-cell disease in Santa Catarina, Brazil.
• To analyze trends in program coverage and identify demographic factors associated with SCD.
• To compare SCD incidence in Santa Catarina with other Brazilian regions.

Main Methods:

• A descriptive, observational, cross-sectional study with retrospective data analysis.
• Data collected from January 2003 to December 2012, including live births, screened infants, and SCD diagnoses.
• Descriptive statistics and frequency tables were used to analyze variables like age at screening, ethnicity, and geographic origin.

Main Results:

• The program screened 86.0% of 848,833 live births, identifying 6,173 cases of sickle-cell trait and 39 of sickle-cell disease.
• The median age for sample collection was 6 days, exceeding the Ministry of Health recommendation.
• SCD incidence was highest in the Midwest and Highland regions; 64.1% of affected children were white.

Conclusions:

• Neonatal screening coverage in Santa Catarina is adequate but has not improved over the decade studied.
• The frequency of sickle-cell disease in Santa Catarina is lower compared to other Brazilian regions.
• The median age at sample collection indicates a need for improvement to align with recommended early detection timelines.