Children with cystic fibrosis are still receiving inconclusive diagnosis despite undergoing newborn screening.

Abstract

We aimed to familiarise clinicians with the terms cystic fibrosis transmembrane conductance regulator related metabolic syndrome (CRMS) and cystic fibrosis screen positive inconclusive diagnosis (CFSPID). We also sought to highlight the monitoring and outcomes of children that match these designations. A literature review was performed by searching PubMed from its inception until 30 November 2022. All relevant articles were included in this narrative review. Despite the implementation of newborn screening programmes for cystic fibrosis (CF), the diagnosis remains uncertain in some newborn infants with elevated immunoreactive trypsinogen. In 2016, a unified definition for CRMS/CFSPID was established to categorise these children. While many of them remain healthy, a portion of these children may develop CF. As a result, it is crucial to monitor them regularly. CRMS/CFSPID is a designation and not a diagnosis. Longer longitudinal studies are needed to shed light on the most appropriate follow-up of these children. Paediatricians need to be knowledgeable about this condition in order to administer proper care, and children should be in contact with their local CF centre.