What question did this study set out to answer?

To highlight the diagnostic challenges of cystic fibrosis in newborns from diverse genetic backgrounds.

May 7, 2026Open Access

When Standard Newborn Screening Isn't Enough: Diagnostic Challenges in the Age of Globalization

MMMarina Ortúzar MenéndezComplejo Hospitalario de Navarra LMLucie Mariel MendigurenComplejo Hospitalario de Navarra MGMaría Carmen Garde GardeInstituto de Salud Pública de Navarra

Key Points

To highlight the diagnostic challenges of cystic fibrosis in newborns from diverse genetic backgrounds.
Analyzed standard screening methods including immunoreactive trypsin testing and CFTR mutation panels.
Conducted full CFTR sequencing to identify rare genetic variants.
A newborn with positive CF screening had normal genetic tests and borderline sweat chloride values.
Full CFTR sequencing revealed a homozygous pathogenic variant (p.H609R) associated with Ecuadorian‐Andean ancestry.

Abstract

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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