Cystic Fibrosis Screening Test

Cystic Fibrosis (CF) is a genetic disease affecting about 30,000 people in the U.S. It is diagnosed early in childhood, occurring in about 1 out of 2,500 births. This condition causes the bodily glands to produce extremely thick secretions or mucus. The lungs, the intestines and the pancreas can be seriously affected. CF is a severe, chronic, debilitating illness with many affected individuals dying as teens or young adults.

One out of 28 Caucasians, Ashkenazi Jews, or persons of European heritage are carriers of the CF genetic mutation, but the carriers are completely unaffected. CF occurs when the newborn inherits two copies of the mutated gene, one copy from each parent. This is called a recessive trait. For a child to be affected, both parents must be carriers of the CF mutation.

We now have special blood tests that can detect whether a person is a carrier for the CF mutation. The American College of Ob/Gyn recommends that we offer this carrier test to eligible pregnant women. If the test is positive, then the partner should be tested as well. This test is included in all carrier testing screening panels.