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.
Highlights
Newborn screening (NBS) for cystic fibrosis (CF), when combined with very early multidisciplinary care at CF centers (CFC), is acknowledged as the optimal approach to CF diagnosis, as it maximizes the long-term prognosis and survival of these children [1,2,3]
The terminology used for these infants is CF transmembrane conductance regulator-related metabolic syndrome (CRMS) in the US [5] and CF screen-positive, inconclusive diagnosis (CFSPID) in Europe [6]
For infants with a positive NBS test but an inconclusive diagnosis, a definition has been created using the terminology CRMS in the US since 2009 [5] that is included in the International Statistical Classification of Diseases and Related Health Problems, Ninth Revision medical code (277.9), which is mandatory in the US for healthcare delivery
Summary
Newborn screening (NBS) for cystic fibrosis (CF), when combined with very early multidisciplinary care at CF centers (CFC), is acknowledged as the optimal approach to CF diagnosis, as it maximizes the long-term prognosis and survival of these children [1,2,3]. The terminology used for these infants is CF transmembrane conductance regulator-related metabolic syndrome (CRMS) in the US [5] and CF screen-positive, inconclusive diagnosis (CFSPID) in Europe [6]. Many of these children will remain asymptomatic, but later in life, a number of them may develop symptoms suggestive or CFTR-related disorder (CFTR-RD) or CF [7]. The approach to these infants is evolving as clinical experience grows; uncertainty remains challenging for families and caregivers
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
