Cystic Fibrosis Newborn Screening | Cincinnati Children's

Описание: http://www.cincinnatichildrens.org/cf

Jeanne Weiland, MSN, RPN, Associate Director, Cystic Fibrosis Center: "When a baby has a newborn screen that comes back with increased risk for Cystic Fibrosis, which we call CF for short, it just means that there's a chance that your baby could have this. And what we know is that if we pick it up early, it makes a big difference in how the babies do in the long run."

"It's important for families to remember that most of the time, the babies won't have CF. If your baby's newborn screen had one CF mutation on it, then most likely, your baby is just a carrier. There's a less-than-10-percent chance that your baby could have a second mutation and have Cystic Fibrosis."

"We'll first contact the Primary Care Provider and let them know that we're available and tell them what our recommendations are for the next steps, which is to come in for a sweat test."

"We know that people with Cystic Fibrosis lose more salt in their sweat, and so we make the babies sweat, and then the result shows us how much salt is in their sweat. And if it's high, then we know that there's a good chance that the baby has Cystic Fibrosis."

"When the test is going on, you'll be with the baby the entire time, so the baby won't be alone. The test is not painful. But what happens is they're going to clean off the baby's arms, and then they'll use a special substance, along with electrode boxes, to stimulate the sweat glands. And that part causes tingling of the skin, so sometimes the babies can get a little fussy because it feels funny. But it does not hurt. That part just lasts for a few minutes. And then they;'ll take that off. And then what they'll do is put a couple of little devices on the baby's arms to collect the sweat in. And they'll let the seat collect for about half an hour, and by the end or that period, they can usually tell whether they've gotten enough sweat for the test to be valid. If they don't get enough sweat, then we need to bring the baby back when they're a little bit bigger. And usually we wait a couple of weeks for that."

"So, once the test is done, you'll go home, and they'll take the sweat to the lab and measure how much salt is in the sweat. They'll have a result that same day, and we'll let you know what the result of the test was. And that will determine what next steps we'll take."

"It's really scary to get this result back, and families worry a lot about what it would mean for the future of their baby. And I think, right now, what's important to remember is that most likely, your baby is a carrier, and carriers don't have any disease."

"But if it turns out your baby does have Cystic Fibrosis, the world with Cystic Fibrosis now is so much different than it used to be. We know that babies that are born today with Cystic Fibrosis have a much better chance of having a long and happy life. This is a time for a lot of hope in Cystic Fibrosis."