South Carolina expands newborn screening to include two rare diseases

Key Points:

• The South Carolina Department of Public Health has expanded its newborn genetic screening program to include Hunter syndrome and Fabry disease, increasing the total detectable conditions from 58 to 60.
• Hunter syndrome affects the body's ability to break down certain sugars, potentially causing irreversible organ damage without early treatment, while Fabry disease impairs fat processing and raises risks for stroke, kidney disease, and heart attack.
• Newborn screening involves a heel prick to collect a blood sample, which is then transported statewide to Columbia for testing, with results automatically entered into electronic health records to reduce errors and speed up reporting.
• Early detection during the newborn period is critical for intervention in these life-altering conditions, as highlighted by the experience of a family whose child was diagnosed with Hunter syndrome only after years of medical uncertainty.
• The implementation of a new electronic system aims to streamline the screening process further by minimizing manual data entry errors and enabling quicker responses from healthcare providers.