Cystic Fibrosis Screening

The American College of Obstetricians and Gynecologists recommends couples planning a pregnancy, or those already pregnant, be informed about Cystic Fibrosis (CF) and CF carrier testing. This information and screening tests are available from Dr. Lescale.

Cystic Fibrosis is a genetic disease affecting about 1 in 3300 people in the United States. An abnormal gene involved in the mucus production in the body causes Cystic Fibrosis. People with CF have chronic lung problems, such as pneumonia, which worsen over time; digestive problems that result in diarrhea and poor growth; and some experience infertility. Symptoms vary greatly among people with Cystic Fibrosis. There are people who reach adulthood before they know they have the disease, but others die from the disease in childhood. Cystic Fibrosis does not affect intelligence or appearance.

Treatments are available, and more are currently being developed. Unfortunately, there is no cure or prenatal treatments. Couples planning a pregnancy may choose to be tested to help in their decision making and planning. Parents may choose to have the testing so that they can educate and prepare themselves to care for a chronically ill child or terminate the pregnancy.

In order for a person to have Cystic Fibrosis he/she must inherit two mutated genes, one from each parent. A carrier of CF has a normal gene and a mutated gene. A carrier of CF has no symptoms of the disease. A carrier mother and a carrier father have a twenty-five percent chance of having a child with Cystic Fibrosis. Anyone can be a carrier of CF regardless of family history. A person’s risk is associated with their ethnic background. Family history of CF only increases the chances of being a carrier.

 

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© 2018 Keith Lescale, M.D., F.A.C.O.G.