Current situation and new steps in newborn screening in Spain

Area of Science:

• Public Health
• Pediatrics
• Neonatal Care

Background:

• Newborn screening (NBS) programs are a cornerstone of public health, with over 50 years of experience.
• In Spain, NBS benefits nearly 350,000 children annually.
• Key milestones include congenital hearing loss screening (2003) and expanded blood spot testing for seven congenital diseases (2014) within the National Health System (NHS).

Purpose of the Study:

• To highlight recent advancements in newborn screening programs in Spain.
• To emphasize the evolving landscape of neonatal diagnostics and public health initiatives.
• To underscore the importance for neonatologists and pediatricians to stay updated on screening developments.

Main Methods:

• Review of public health policies and advancements in screening technologies.
• Analysis of the implementation of new screening protocols within the Spanish National Health System.
• Consideration of emerging scientific evidence and technological capabilities.

Main Results:

• Successful implementation of screening for critical congenital heart diseases (approved January 2024).
• Expansion of congenital disease screening via newborn blood spot tests, incorporating new conditions.
• Advancements driven by second-tier testing and new scientific evidence.

Conclusions:

• Newborn screening programs in Spain are continuously evolving, enhancing pediatric and neonatal care.
• The integration of new screening methods signifies a commitment to improving early detection of congenital conditions.
• The future of NBS points towards rapid progress, potentially including genomic newborn screening.