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Current situation and new steps in newborn screening in Spain
María L Couce1, María Cernada2, Hector Boix3
1Servicio de Neonatología, Hospital Clínico Universitario de Santiago; IDIS, RICORS-SAMID, Universidad de Santiago de Compostela, Santiago de Compostela (La Coruña), Spain.
Insights
Newborn screening (NBS) programs in Spain have significantly advanced pediatric public health, benefiting thousands of children annually. Recent updates include critical congenital heart disease screening and expanded blood spot testing, with genomic screening on the horizon.
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.
Abstract:
After more than 50 years of experience, newborn screening (NBS) programs represent one of the most significant advancements in public health, particularly in pediatric and neonatal care, benefiting almost 350 000 children annually in Spain. Following the inclusion of congenital hearing loss screening in 2003 and screening for seven congenital diseases by newborn blood spot test in 2014 as part of the population-wide neonatal screening program of the National Health System (NHS), significant advances have been achieved in recent years. This progress is evident in the implementation of screening for critical congenital heart diseases, approved in January 2024 by the National Public Health Commission of the Interterritorial Council of the NHS, as well as screening for congenital diseases through the newborn blood spot test, with the incorporation of new conditions enabled by advances in second-tier testing and emerging scientific evidence. Neonatologists and pediatricians must keep abreast of these developments and where the field is heading, as even more rapid progress may take place with the advent of genomic newborn screening.
