Importance Cystic fibrosis, a genetic disorder defined by variants in the cystic fibrosis
transmembrane conductance regulator (CFTR) gene, affects more than 30 000 individuals in …

Objectives Aim of this study was to identify risk factors for a progression to cystic fibrosis (CF)
in individuals detected as CF Screening Positive, Inconclusive Diagnosis (CFSPID) …

Rationale Cystic fibrosis (CF) newborn screening (NBS) algorithms in the United States vary
by state. Differences in CF NBS algorithms could potentially affect the detection rate of CF …

Newborn screening for cystic fibrosis was fully implemented in the US by 2010, but delays in
timeliness of evaluation for infants with positive newborn screening tests persist. Through …

Most people with cystic fibrosis (CF) are diagnosed following abnormal newborn screening
(NBS), which begins with measurement of immunoreactive trypsinogen (IRT) values. A case …

Background Newborn screening (NBS) for cystic fibrosis (CF) is universal in the United
States. Protocols vary but include an immunoreactive trypsinogen (IRT) level and CFTR …

Background Cystic fibrosis (CF) is now routinely diagnosed through newborn screening
(NBS), but the tests employed in the USA have been evolving for two decades as missed …

Video Abstract A multidisciplinary committee developed evidence-based guidelines for the
management of cystic fibrosis transmembrane conductance regulator-related metabolic …

This past year, there were many important advances for patients with cystic fibrosis (CF). Of
the many publications related to CF in 2023, there was further evaluation of highly effective …

This Commentary summarizes what the author has learned in 46 years of research on
newborn screening (NBS) for cystic fibrosis (CF) combined with healthcare and public health …