Cystic fibrosis (CF) is characterized by pulmonary and gastrointestinal problems of varying severity. Although there is a wide spectrum of this disease, most individuals who have CF experience substantial health problems and reduced life expectancy and require lifelong medical care. CF occurs more frequently in Caucasians than in other groups.

Individually, inherited disorders are rare, but collectively, they account for one quarter to one third of all major birth defects. Cystic fibrosis is the most common autosomal recessive genetic disease among Caucasians, with a frequency of 1 in 3,300. The frequency of CF in Hispanics is about 1 in 8,000; in African American, I in 15, 000, in Asian Americans, 1 in 32,000; and is low in most other racial or ethnic groups.

Cystic fibrosis is inherited as an autosomal recessive gene. Carriers have a mutation in one of their two copies of the OF gene. When one parent is a CF carrier, one half of their offspring also will be CF carriers. In general, carriers are healthy individuals, and they usually are not aware of their carrier status unless they have an affected relative or affective offspring. Couples who both carry a CF mutation have a 1-in-4 chance of having a child with CF in each pregnancy. When both parents are carriers, there is a two thirds' chance that unaffected children will be CF carriers.

The gene that causes Cystic fibrosis, located on chromosome number seven, was isolated in 1989. The more than 900 mutations in the gene that have been reported in individuals with CF vary in the frequency of their occurrence among different populations. The CF gene directs the synthesis of cystic fibrosis transmembrane conductance regulator. Mutations in the gene cause defective chloride transport resulting in high sweat chloride levels and thick sticky mucus in the lungs and pancreas that result in the major health problems of CF.

The American College of Obstetrics and Gynecology now recommends that all Caucasians be offered a blood test that is now available to detect carriers of Cystic Fibrosis. If it is positive, and the father of the baby is also positive, the health of the baby can be investigated with amniocentesis. If the child has the disease then you can be prepared. This is to inform you of the option to get this test done.