Cystic Fibrosis Carrier Screening
What is Cystic Fibrosis?
Cystic fibrosis is a multisystem disease that affects the lungs, pancreas, gastrointestinal tract, and reproductive systems. Symptoms of cystic fibrosis can vary among individuals and most frequently include lower airway inflammation and chronic infections that can progress to end-stage lung disease. Pancreatic insufficiency with malabsorption is a complication that occurs in many individuals with CF. Most males with cystic fibrosis experience infertility. Individuals with cystic fibrosis have normal intelligence and the average median survival is currently 37 years. The most common cause of death is respiratory failure. Treatment of an individual with CF can include medication to improve digestion, monitored nutrition, and lung therapy. Up to 15% of individuals with a diagnosis of cystic fibrosis can have a mild form with an average life expectancy of 56 years. Cystic fibrosis is inherited in an autosomal recessive manner.
How is Cystic Fibrosis Inherited?
Cystic fibrosis is inherited in an autosomal recessive manner. In most cases, both parents must be carriers of the condition in order to have a child with CF. Carriers are not themselves affected by the disease, but have a chance of having a child with the disease. If one parent is found to be a carrier, screening is recommended for their partner. If the partner screens negative, then their risk to have an affected child is reduced (but not eliminated). If both parents are carriers of CF, there is a 25% chance in each pregnancy of having a child with CF, a 50% chance of having a child who is an unaffected carrier of the condition, and a 25% chance of having a child who is not a carrier and is unaffected.
CF Carrier Screening Panel Options
CF Basic Carrier Screen
This panel includes 40 well-characterized CFTR pathogenic variants, including the 23 variants recommended for carrier screening by ACOG and ACMG. The remaining variants on the panel have been reported in the literature to be a cause of cystic fibrosis.
Detection rates and residual risks with the basic CF panel: