Carrier Screening for Cystic Fibrosis: A Perinatal Perspective

Abstract

Cystic fibrosis (CF) is one of the most common autosomal recessive disorders in the United States today. One in 29 Americans, greater than 10 million people of Caucasian ethnicity, is a carrier for this genetic condition. Although it has been 10 years since the discovery of the gene for CF, carrier screening is not yet a standard of practice. The ultimate goal of carrier testing is to provide individuals at risk with information and guidance that will permit them to make informed and independent decisions. It can be anticipated that perinatal nurses will be part of the process of carrier screening of CF for prenatal patients. This article describes the nature of CF, the options for testing, and the basics of the molecular testing so nurses can be instrumental in the education process when this becomes standard practice.