Cystic fibrosis: benefits and clinical outcome

Abstract

Diagnosis of cystic fibrosis (CF), the most common life-limiting recessive genetic condition in the caucasian population, via NBS is now occurring in many regions of the world. There is evidence that newborn screening (NBS) for CF may prevent malnutrition in infants with pancreatic-insufficient CF and may have an impact upon later growth and development. Progression of lung disease in CF is the major determinant of quality of life and of survival. There is no clear evidence of an advantage for those diagnosed by NBS programmes in terms of the progression of lung disease as measured by lung function. Some studies show better preservation of lung function, while others fail to show such an outcome. This is also true for respiratory infections and acquisition of the most significant respiratory pathogen in CF-Pseudomonas aeruginosa. There is, however, evidence that an advantage may be accrued by early diagnosis made possible by NBS in terms of lung disease as measured by pulmonary imaging. Those diagnosed via NBS have an apparent advantage in terms of a reduction in the number and duration of hospitalizations, particularly in infancy, as well as the need for antibiotic usage. There is also evidence from a number of sources for a lifetime survival advantage for those with CF diagnosed via NBS programmes, with the most significant advantage being for survival during infancy.