The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening.

Summary

Describes the development of the Spanish Uniform Screening Panel, a national consensus framework to harmonise newborn blood spot screening across Spanish regions, with input from Portugal. The process involved a survey of all Spanish screening centres, expert workshops, multiple consensus rounds and predefined inclusion criteria, with disease nomenclature standardised using OMIM and ORPHAcodes. Conditions were classified as primary targets or secondary findings, and confirmatory biochemical and genetic testing pathways were agreed. The panel aims to reduce inter-regional inequity in early diagnosis of congenital and metabolic disorders.

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