Genetic testing can help screen for cystic fibrosis, other diseases

Posted at 9:41 PM, Nov 01, 2014
and last updated 2014-11-01 23:43:28-04

SALT LAKE CITY -- Cystic fibrosis is a chronic disease that affects the lungs, and more than 30,000 children and adults in the United States have the disease.

The disease is inherited so parents can be screened for it, and the median age of survival is about 40.

Children who have cystic fibrosis have a hard time breathing and often have to inhale antibiotics with bronchodilators to help them breathe. Most patients use a vest airway clearance system, which literally shakes the chest walls, loosening mucus so it can be cleared.

Prospective parents can be screened for many gene mutations, including one that could pass on cystic fibrosis. If just one parent is a carrier, the chances of them having a child with CF are extremely remote. It's a different story if both parents are carriers.

Dierdre Conway is a physician at Utah Fertility Center, and she spoke about the issue.

"So if they are both carriers, then what you have to do is really in vitro fertilization,” Conway said. “So we've got great technology now so that you can screen embryos to make sure that the embryos we put back would not be effected with that gene mutation."

Lance and Nicole Bertola are patients at the Utah Fertility Center, and they're being tested for gene mutations, which they said gives them peace of mind.

"If we're going to have a test tube baby, you know, we have some options to pick the best ones and eliminate ones that might have some challenges,” Lance Bertola said.

People can be a carrier for a mutation and not know it, and Conway suggests all prospective parents undergo the screening--which can discover gene mutations tied to cystic fibrosis as well as many other diseases.