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Cystic fibrosis screen positive, inconclusive diagnosis

Jürg Barben1, Kevin W Southern

  • 1aDivision of Pediatric Pulmonology and CF Centre, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland bDepartment of Women's and Children's Health, University of Liverpool, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.

Current Opinion in Pulmonary Medicine
|September 2, 2016
PubMed

Insights

Newborn screening for cystic fibrosis (CF) can identify infants with unclear diagnoses, termed CFTR-related metabolic syndrome (CRMS)/CF screen positive, inconclusive diagnosis (CFSPID). Most infants remain healthy, but monitoring is crucial for potential CFTR-related disorders.

Area of Science:

  • Medical Genetics
  • Newborn Screening
  • Pediatric Pulmonology

Background:

  • Newborn bloodspot screening (NBS) for cystic fibrosis (CF) presents challenges in diagnosing infants with unclear results.
  • This uncertainty impacts healthcare providers and families, necessitating clear diagnostic pathways and management strategies.

Purpose of the Study:

  • To review the classification, frequency, clinical outcomes, and early management of infants identified with unclear diagnoses post-CF NBS.
  • To provide an overview of the current understanding and international harmonization efforts for these ambiguous diagnoses.

Main Methods:

  • Literature review of studies on infants with inconclusive CF NBS results.
  • Analysis of classification systems, epidemiological data, and clinical follow-up information.

Main Results:

  • Infants with inconclusive diagnoses are designated as CFTR-related metabolic syndrome (CRMS) in the US and CF screen positive, inconclusive diagnosis (CFSPID) in Europe; these terms are now harmonized to CRMS/CFSPID.
  • The majority of CRMS/CFSPID infants remain asymptomatic with no long-term health issues.
  • A subset of CRMS/CFSPID infants are at risk for developing CFTR-related disorders or atypical CF, characterized by CF symptoms but normal or intermediate sweat chloride values.

Conclusions:

  • The increased use of extended gene sequencing in NBS algorithms has led to a higher-than-expected frequency of CRMS/CFSPID diagnoses.
  • Harmonization of terminology and clearer designation criteria are essential for collecting long-term outcome data.
  • Standardized data collection will guide future management strategies for infants with inconclusive CF NBS results.
Abstract

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