Challenges in Cystic Fibrosis Newborn Screening and Recommendations for Primary Care Physicians.

During the past decade, newborn screening (NBS) for cystic fibrosis (CF) has disseminated worldwide after endorsements by the Centers for Disease Control and Prevention and the CF Foundation. Similar to widespread introduction of other NBS programs, CF NBS implementation occurred on a region-by-region basis by using a wide variety of screening strategies and analytical methods. All strategies begin with measurement of the biomarker, immunoreactive trypsinogen, and should end with a sweat chloride test. Although these protocol variations have differing screening efficiency or effectiveness, all CF NBS programs have provided a better opportunity for healthier outcomes than traditional strategies that rely on signs/ symptoms for triggering the diagnostic processes associated with delays and discrimination.