ArticleClinical case reports2026
When Standard Newborn Screening Isn't Enough: Diagnostic Challenges in the Age of Globalization.
Article in Clinical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Authors and funding
6 authors.
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Abstract
Cystic fibrosis (CF) newborn screening combines immunoreactive trypsin testing and targeted CFTR mutation panels. However, in Europe, most standard panels are designed primarily for common variants in Caucasian populations. We report a newborn, born in Spain from immigrant parents, with positive CF screening but initially normal genetic testing and borderline sweat chloride values. Full CFTR sequencing ultimately revealed a homozygous pathogenic variant (p.H609R), previously described in individuals of Ecuadorian-Andean ancestry. This case highlights the importance of clinical vigilance and comprehensive genetic analysis in increasingly diverse populations.
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