California Newborn Screening Program

Cystic Fibrosis Information Sheet

Cystic fibrosis (CF) is one of the most common of the serious inherited childhood disorders. Approximately 100 babies are born each year in California with cystic fibrosis and there are currently approximately 3,000 people with cystic fibrosis in the State. A defective gene causes the body to produce abnormally thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections. These thick secretions also obstruct the pancreas, preventing digestive enzymes from reaching the intestines to help break down and absorb food, often leading to impaired growth and development. People with cystic fibrosis have a variety of symptoms including: very salty-tasting skin; persistent coughing, at time with phlegm; wheezing or shortness of breath; an excessive appetite but poor weight gain; and greasy, bulky stools. Symptoms vary from person to person due, in part, to the more than 1,200 CF gene mutations that have so far been identified.

Cystic fibrosis symptoms cannot be entirely prevented even with early diagnosis. Once diagnosed, treatment can begin and includes taking digestive enzymes when eating fat-containing foods, daily therapies to dislodge mucus from the lungs, regular use of antibiotics and anti-inflammatory drugs to prevent or lessen damage to the lungs, and careful monitoring. Treatment improves growth and longevity, and reduces hospitalizations.

An early diagnosis through newborn screening slows the progress of the disease and allows a child to receive appropriate medical treatments before some irreversible disease processes have begun. An early diagnosis is the first step in an appropriate cystic fibrosis medical care treatment plan. An early diagnosis provides parents with more time to become educated about how to provide the best possible care for a child with cystic fibrosis. An early diagnosis helps parents make informed life choices, including reproductive and health plan decisions.

Parents' Guide to Cystic Fibrosis (PDF) English  ... Spanish