CYSTIC FIBROSIS CARRIER SCREENING
What is Cystic Fibrosis?
Cystic fibrosis (CF) is a disease that affects the lungs, pancreas, gastrointestinal tract, and reproductive system. 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. Treatment of an individual with CF can include medication to improve digestion, monitored nutrition, and lung therapy.
How is Cystic Fibrosis Inherited?
Cystic fibrosis is inherited in an autosomal recessive manner. 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 the couple’s 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
GenPath offers two different CF carrier screening panel options. The basic CF Carrier Screen is a panel of 40 well-characterized CFTR pathogenic variants, and the expanded CF Carrier Screen is a panel of 215 pathogenic variants reported to cause cystic fibrosis. Your provider or genetic counselor can help you decide which CF carrier screening panel is right for you.
Who Should Have Cystic Fibrosis Carrier Screening?
CF carrier screening is recommended for all women prior to conception or early in pregnancy. If you have no family history of CF, your risk to be a carrier is based on your ethnicity. CF occurs in all ethnic backgrounds. If you have a family member with CF, your risk to be a carrier is increased.
Is There Prenatal Diagnosis for Cystic Fibrosis?
Yes. If both biological parents are found to be carriers of cystic fibrosis, prenatal testing can be performed to determine whether or not a fetus is affected.