Developments in managing CF continue to drive dramatic improvements in survival. As
newborn screening rolls-out across Europe, CF centres are increasingly caring for cohorts of …

Newborn screening describes various tests that can occur during the first few hours or days
of a newborn's life and have the potential for preventing severe health problems, including …

Specialised CF care has led to a dramatic improvement in survival in CF: in the last four
decades, well above what was seen in the general population over the same period. With …

Allelic heterogeneity in disease-causing genes presents a substantial challenge to the
translation of genomic variation into clinical practice. Few of the almost 2,000 variants in the …

Several diseases have been clinically or genetically related to cystic fibrosis (CF), but a
consensus definition is lacking. Here, we present a proposal for consensus guidelines on …

Background Newborn screening (NBS) for cystic fibrosis (CF) results in the recognition of a
number of infants with a positive NBS result, but an inconclusive diagnosis. Varied practice …

Since the late 1970s when the potential of the immunoreactive trypsinogen assay for early
identification of infants with cystic fibrosis was first recognised, the performance of newborn …

Establishing the diagnosis of cystic fibrosis (CF) is straight forward in the majority of patients:
they present with a clear clinical picture (most frequently chronic respiratory symptoms plus …

In many European countries neonatal screening has been introduced over the last 50 years
as an important public health programme. Depending on health care structure, available …

Background Newborn screening (NBS) for cystic fibrosis (CF) is a well-established public
health strategy with international standards. The aim of this study was to provide an update …