Current situation and new steps in newborn screening in Spain.

Autores de IIS La Fe

• María Cernada Badía

  Autor

Participantes ajenos a IIS La Fe

• Couce, Maria L
• Boix, Hector
• Sanchez-Redondo, Maria Dolores
• Espinosa Fernandez, Maria Gracia
• Gonzalez-Pacheco, Noelia
• Martin, Ana
• Perez-Munuzuri, Alejandro
• en representacion del Comite de Estandares Sociedad Espanola de
• Neonatologia

Grupos

• Perinatología

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.

Copyright © 2025 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

Keywords

• Congenital hearing loss screening; Cribado de cardiopatías congénitas críticas; Cribado de hipoacusia congénita; Cribado genómico neonatal; Cribado neonatal de enfermedades congénitas en prueba de talón; Critical congenital heart disease screening; Genomic newborn screening; Newborn screening for congenital diseases with newborn blood spot test; Pruebas de segundo nivel; Second-tier testing