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[Follow-up protocol of patients with cystic fibrosis diagnosed by newborn screening]

Silvia Gartner1, Pedro Mondéjar-López2, Óscar Asensio de la Cruz3

  • 1Unidad de Fibrosis Quística y Neumología Pediátrica, Hospital Universitari Vall d́Hebron, Barcelona, España.

Anales De Pediatria
|January 2, 2019
PubMed

Insights

Newborn screening for cystic fibrosis (CF) enables early diagnosis and treatment to prevent lung damage. An updated guide is needed due to varied strategies across Spain since 2015.

Area of Science:

  • Pediatrics
  • Genetics
  • Public Health

Background:

  • Newborn screening (NBS) for cystic fibrosis (CF) allows early diagnosis and treatment, crucial for preventing irreversible lung damage.
  • CF NBS programs have expanded significantly in Spain, with all autonomous regions offering it since 2015.
  • Diverse screening and diagnostic strategies currently exist across different Spanish regions.

Purpose of the Study:

  • To provide an updated and consensual guide for the diagnosis, follow-up, and treatment of patients identified through neonatal screening for CF.
  • To address the heterogeneity in current CF NBS practices across Spain.

Main Methods:

  • Review of existing newborn screening protocols for cystic fibrosis in Spain.
  • Analysis of diagnostic, follow-up, and treatment strategies implemented in various autonomous regions.
  • Consensus-building process for developing updated guidelines.

Main Results:

  • Newborn screening for CF is widely implemented across Spain.
  • Significant variations in screening protocols and diagnostic pathways are observed.
  • There is a recognized need for standardized guidelines.

Conclusions:

  • An updated, consensus-driven guide is essential for optimizing CF care in Spain.
  • Standardization of diagnosis, follow-up, and treatment following NBS will improve patient outcomes.
  • Early intervention through NBS remains critical for managing cystic fibrosis.

Keywords:
Cribado neonatalCystic fibrosisFibrosis quísticaGuidelines for diagnosis and treatmentNewborn screeningProtocolo de diagnóstico y seguimiento

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