This is the extension project on subjects with inconclusive diagnosis after positive newborn screening for Cystic Fibrosis (CF) (FFC#30/2018), involving 5 Italian centers. The goal was to continue data collection, in order to obtain information after a longer follow up. In addition, researchers also assessed the psychological impact of the communication of inconclusive diagnosis, comparing it with that of parents of CF children. 268 subjects, born from January 2011 to December 2019, were enrolled: 243 asymptomatic CFSPID, 7 with mono-organ involvement (CFTR-RD) and 18 with CF diagnosis due to pathological sweat test over the years. At the end of the observation period, 30 (11.1%) received a definitive diagnosis of CF (10), healthy carrier (10), healthy subject (1), while 9 children were labelled as CFTR-RD in presence of pancreatitis, bronchiectasis at the computed tomography scan or isolated episodes of dehydration. The researchers confirmed that even CFSPID children (mean age 4.9 years; range 1.5-10.5) do not have a definitive diagnosis in most cases, but are in good health and with normal respiratory function in school age.

The psychological impact was assessed in 16 families of CFSPID vs 16 of CF patients, by specific questionnaires and on the basis of an interview carried out in the presence of a psychologist. The families of CFSPID children had an initial perception of disease and anxiety like CF patients. These data confirm that, despite the efforts for a correct communication, many families of CFSPID subjects perceive, at least in the first months, the presence of a disease. It is essential to early identify predictor factors of evolution, in order to differentiate the follow up, stopping it as soon as possible in healthy subjects or healthy carriers.