RT Journal Article
SR Electronic
T1 Cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID)
JF Breathe
JO Breathe
FD European Respiratory Society
SP 210088
DO 10.1183/20734735.0088-2021
VO 17
IS 3
A1 Sinha, Aditi
A1 Southern, Kevin W.
YR 2021
UL http://breathe.ersjournals.com/content/17/3/210088.abstract
AB Newborn bloodspot screening (NBS) for cystic fibrosis (CF) is an effective strategy for the early recognition of infants with a CF diagnosis. Some infants with a positive NBS result for CF have an inconclusive diagnosis and evidence suggests the number of these infants is increasing, as more extensive gene analysis is integrated into screening protocols. There is an internationally agreed, but complex, designation for infants with an unclear diagnosis after a positive screening result: cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID). Infants with a CRMS/CFSPID designation have no clinical evidence of disease and do not meet the criteria for a CF diagnosis, but the NBS result indicates some risk of developing CF or a CFTR-related disorder. In this review, we describe the accurate designation of these and reflect on emerging management pathways, with particular attention given to clear and consistent communication.Educational aimsTo clarify the definition of the global harmonised designation: cystic fibrosis transmembrane conductance regulator-related metabolic syndrome (CRMS)/cystic fibrosis screen positive, inconclusive diagnosis (CFSPID).To understand what impact a CRMS/CFSPID result has for the patient and their family.There is an internationally agreed, but complex, designation for infants with an unclear diagnosis after a positive screening result: CRMS/CFSPID. The majority of CRMS/CFSPID infants remain well and do not convert to a diagnosis of CF. https://bit.ly/3mtpJTu