Newborn screening (NBS) is a program run by each state to identify babies born with certain health conditions, including cystic fibrosis. Although a sweat test should ultimately be done to rule out or confirm a CF diagnosis, NBS can help you and your health care providers take immediate steps to keep your child as healthy as possible.
Cystic fibrosis is caused by mutations in both copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Scientists are examining whether it is possible to correct the mutations through a process called gene editing.
Cystic fibrosis is a genetic disorder that affects the lungs, pancreas, and other organs. Keep reading to learn how to treat and live with CF.
Carrier (or genetic) testing not only plays a key role in the diagnosis of cystic fibrosis, but testing also allows parents to find out what their chances are of having a child with CF to help inform important family planning decisions.
Every person has two copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. A person must inherit two copies of the CFTR gene that contain mutations — one copy from each parent — to have cystic fibrosis.
In an international research project, scientists are examining cystic fibrosis transmembrane conductance regulator (CFTR) mutations to determine which ones cause CF and to provide additional information associated with these mutations. Their findings are available in an online searchable database.