A 25-Year Retrospective on Bavaria's Newborn Screening Programme: Achievements, Challenges and Long-Term Follow-Up

Area of Science:

• Public Health
• Genetics
• Pediatrics

Background:

• Bavaria implemented a centralized newborn screening (NBS) program using dried blood spots (DBS).
• The program involves collaboration between NBS centers, laboratories, healthcare facilities, and parents.
• Coordination, quality assurance, and long-term follow-up are key components.

Purpose of the Study:

• To analyze the effectiveness of NBS in Bavaria from 1999 to 2023.
• To evaluate the long-term outcomes for a birth cohort until 2013.
• To assess the impact of centralized coordination on NBS program success.

Main Methods:

• Analysis of NBS data from 1999-2023 for 2,854,190 screened infants.
• Long-term follow-up study of a birth cohort until 2013.
• Evaluation of NBS coverage, repeat test completion, and timely clinical interventions.

Main Results:

• Achieved 99.83% NBS coverage and 99.09% completion of repeat tests.
• 2500 infants were diagnosed and treated early; 87% received timely intervention.
• Near-universal participation and follow-up of positive NBS results were attained through centralized coordination.

Conclusions:

• Centralized coordination and collaboration are crucial for successful NBS programs.
• NBS in Bavaria has led to early diagnosis, treatment, and improved long-term development for affected children.
• The program demonstrates the feasibility of achieving high participation and effective follow-up in NBS.