Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis
1Hopital Necker Enfants-Malades, AP-HP, CF centre, Université Paris Descartes, 75015 Paris, France; anne.munck1@gmail.com; Tel.: +33-60-9372-870.
Insights
Newborn screening for cystic fibrosis (CF) identifies infants with CF transmembrane conductance regulator-related metabolic syndrome (CRMS) or CF screen-positive, inconclusive diagnosis (CFSPID). A unified definition aids understanding of their outcomes and management.
Area of Science:
- Genetics and Genomics
- Pediatrics
- Public Health
Background:
- Newborn screening for cystic fibrosis (CF) can identify infants with inconclusive diagnostic results.
- These infants are classified as CF transmembrane conductance regulator-related metabolic syndrome (CRMS) or CF screen-positive, inconclusive diagnosis (CFSPID).
- A recent international consensus established a unified definition for CRMS/CFSPID.
Purpose of the Study:
- To review recent publications on CRMS/CFSPID infants.
- To discuss the unified definition, incidence, CFTR protein assessment, and outcomes.
- To highlight the importance of clinical preparedness and parent communication.
Main Methods:
- Literature review of recent publications on CRMS/CFSPID.
- Analysis of data on incidence, diagnostic assessment, and clinical outcomes.
- Synthesis of information regarding management strategies.
Main Results:
- A unified international definition for CRMS/CFSPID has been established.
- Incidence rates across Europe are being documented.
- Outcomes vary, with some infants developing CFTR-related disorder (CFTR-RD) or CF later in life.
Conclusions:
- The unified CRMS/CFSPID definition will enhance epidemiological and outcome research.
- Clinical vigilance is crucial for identifying and managing these infants.
- Effective communication with families is essential throughout the process.
Abstract:
An unintended consequence of newborn screening for cystic fibrosis (CF) is the identification of infants with a positive screening test but an inconclusive diagnostic testing. These infants are designated as CF transmembrane conductance regulator-related metabolic syndrome (CRMS) in the US and CF screen-positive, inconclusive diagnosis (CFSPID) in Europe. Recently, experts agreed on a unified international definition of CRMS/CFSPID which will improve our knowledge on the epidemiology and outcomes of these infants and optimize comparisons between cohorts. Many of these children will remain free of symptoms, but a number may develop clinical features suggestive of CFTR-related disorder (CFTR-RD) or CF later in life. Clinicians should to be prepared to identify these infants and communicate with parents about this challenging and stressful situation for both healthcare professionals and families. In this review, we present the recent publications on infants designated as CRMS/CFSPID, including the definition, the incidence across Europe, the assessment of the CFTR protein function, the outcomes with the rates of conversion to a final diagnosis of CF and their management.
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