Studies have shown that babies who are diagnosed with CF through newborn screening benefit from better nutritional status than babies whose diagnosis is delayed. While there is as of yet no cure for CF, symptoms are managed to maintain good nutritional status, slow progression of lung damage and improved quality of life.
CF newborn screening also has implications for the parents’ future offspring. Babies who screen positive have at least one parent who is a CF carrier. Parents who are informed of their child’s carrier status may choose to be tested. If both parents are CF carriers, then future pregnancies are at a one in four risk to have CF. Prenatal diagnosis, serial ultrasound, and other management issues can be considered.
While CF is most common in Caucasians, it occurs in all ethnic groups. Currently, sweat testing is a more sensitive test for CF than DNA analysis, especially in non Caucasians, because of the large number of mutations that are not identified with current screening. CF is inherited, but 80 percent of newly diagnosed patients do not have a family history of CF.
For additional information on CF carriers, visit the CF Foundation website: https://www.cff.org/intro-cf#testing-and-genetics