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.

Pregnant With Cystic Fibrosis: One Case Study Explores the Nursing Interventions of a Twin Gestation CF Patient

“…As an autosomal recessive disease, the gender of the individual is irrelevant, but there may be an association with ethnic groups. Caucasians have the highest chance of being a carrier of the CF gene (1 in 29) followed by Hispanics (1 in 46), African Americans (1 in 60), and Asian Americans (1 in 90) (Dempsey, 1999).…”

Human Genomics: Challenges and Opportunities

“…Cystic fibrosis is an autosomal recessive disease, in which an individual is affected when she or he has two copies of the mutant gene (a homozygote) and a carrier when she or he inherits a single copy of the mutant gene (a heterozygote). Approximately 10 million Americans are asymptomatic CF carriers and unaware of their carrier status (Demsey, 2000). Carrier screening is recommended for adults with a positive family history of CF, reproductive partners of people with CF, couples planning a pregnancy, and couples seeking prenatal care (National Institutes of Health Consensus Development Conference Statement, 1999).…”

Cystic Fibrosis Carrier Screening: ARE NURSES READY TO BE ON THE FRONT LINE?

“…Approximately 10 million Americans are asymptomatic CF carriers and unaware of their carrier status (Demsey, 2000). More than 80 percent of affected infants are born in families with no prior family history (Wildhagen, ten Kate, & Habbema, 1998).…”

“…The ideal time for CF carrier screening is before a couple is pregnant, so that the full range of reproductive options that could influence the risk of having an affected child can be considered. Such preconception options include (Demsey, 2000) • artificial insemination by donor • oocyte donation • preimplantation genetic diagnosis • adoption…”