Cystic fibrosis newborn screening.

Cystic fibrosis (CF) is a life-threatening autosomal recessive disease and affects about 1 in 3500 newborns in the United States. In the last decade, advances to detect the disease include development of newborn screening. CF newborn screening is a complex process and diagnosing a newborn with CF sometimes can be challenging even for an expert. In this article, we briefly discuss the pathogenesis of cystic fibrosis followed by a discussion of the need to conduct newborn screening and the screening algorithm. Finally, healthcare providers are directed to contact information to learn more about diagnosing and treating cystic fibrosis in Arkansas. Cystic fibrosis is the result of a mutant gene located on chromosome 7; the gene product is named cystic fibrosis transmembrane conductance regulator (CFTR). CFTR is located in the apical membranes of most of the cell lines and responsible for chloride ion conduction. In addition, CFTR influences the expression of several other gene products.