CFSPID

CFSPID is an abbreviation for Cystic Fibrosis Screen Positive, Inconclusive Diagnosis.

CFSPID is not a disease or a condition, it is a name (or designation) for infants who have a positive newborn screening test but do not have sufficient evidence for a Cystic Fibrosis (CF) diagnosis.

This may be because the sweat test is inconclusive (salt level is low or intermediate) or the gene changes identified are not clearly CF causing.

Infants with a CFSPID designation may convert to a CF diagnosis later in childhood or in their adult life.

The registry will give us important information to help quantify this risk. This may be because the amount of salt in their sweat test has increased to a level consistent with a CF diagnosis (≥60 mmol/L).

Sometimes it is because the child has developed clinical features consistent with CF. There is some debate what level of clinical concern would be enough for a CF diagnosis and again the registry will help provide information to make this clearer.

ECFS guidance on the management of CFSPID is available (updated 2021).

A key theme of this guidance is the need for proportional investigation and management (not over-medicalising these infants).

Another important theme is the need for a consistent approach from healthcare professionals when engaging with CFSPID families. Parents describe “mixed messages” as very unsettling and upsetting.

Because of the gene changes recorded in these infants, it can be assumed that some of them have an increased risk of developing a CFTR-related disorder (CFTR-RD) later in childhood or adult life. More information on CFTR-RD can be found in these papers:

ECFS CFTR-RD diagnostic criteria 2022

ECFS CFTR-RD management 2024

ECFS CFTR-RD standard care 2024

The CFSPID registry will help us to better quantify the risk for these infants of developing a CFTR-RD.

The infographic below shows the CFSPID journey and may be a useful visualisation for parents and healthcare professionals.

Data collection is being carried out in a separate module of ECFSTracker.

Ethics approval and written informed consent of the families are obtained specifically for the CFSPID registry.