CLEVELAND - Newborn screening for cystic fibrosis (CF) has been mandated for the state of Ohio, beginning August 30, 2006. The screen has been added to the additional routine screenings done on tiny samples of blood taken from a newborn's heel 24-48 hours after birth, and the results are faxed by the state to the pediatrician.
A positive screen means that the infant is at increased risk for CF. It does not mean that the infant definitely has the disease. Further testing must be done to properly identify and diagnose the infant with CF versus those who are simply carriers of the gene that causes CF. This additional testing must be done at an approved Cystic Fibrosis Center, such as the one at Rainbow Babies & Children's Hospital.
"If a newborn screen is positive, the next step is a sweat test and genetic counseling," said Dr. Michael Konstan, director of Rainbow's CF center. "The sweat test takes about 45 minutes and almost always determines whether the baby is affected or not."
The sweat test should be performed around 2-4 weeks after birth, the age when sweat testing is feasible.
"We will be scheduling appointments for newborns with a positive screen on Friday mornings, and have implemented a process for performing the sweat test, sharing the result and providing the proper care and counseling needed for both a ruled out and a confirmed diagnosis," said Dr. Konstan. "The entire appointment will take several hours, but it will provide an immediate answer, and when necessary, treatment options." Of those who screen positive, it is expected that 1 out of 10 will have CF, while the others will be identified as carriers.
Cystic fibrosis is a life-threatening, childhood onset inherited disorder affecting approximately 30,000 children and adults in the United States. CF affects breathing and digestion. In the lungs,
thick, sticky mucus clogs the airways. The pancreas is also affected and this impairs digestion. The sweat glands also make very "salty" sweat.
CF is inherited when both parents carry an altered CF gene and pass it on to their child. A person who has one altered CF gene is called a "carrier." Carriers do not usually have health problems caused by CF, but when two CF carriers have children together, each baby has a one in four chance of having CF. Most people with CF do not have a family history of the disease.
"Although there is not a cure for CF, there have been many advances in treatment, and newborn screening provides us with an opportunity to treat before complications occur." said Dr. Konstan. "Early treatment should result in a better outlook for a baby with CF, enabling them to grow-up with fewer complications of the disease and an improved quality of life."
Scientists at Rainbow and its academic affiliate, Case Western Reserve University School of Medicine, are among the world's most innovative researchers, developing new treatments and leading the search for a cure for CF. Rainbow sees the majority of CF patients in Ohio, and its Cystic Fibrosis Center is fully accredited with the highest possible rating by the Cystic Fibrosis Foundation.
Centers like Rainbow provide multidisciplinary teams that are experts in diagnosing and treating CF. The team includes physician specialists, nurses, respiratory therapists, dietitians, social workers and genetic counselors.
"Immediate follow-up of a positive newborn screen is extremely important," said Dr. Konstan. "Early diagnosis allows for immediate interventions with specialized therapies. We are very pleased that newborn screening for CF will allow us to have the opportunity to help those afflicted with this disease to live longer, better lives."
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About The Leroy W. Matthews Cystic Fibrosis Center at Rainbow Babies & Children's Hospital
The LeRoy W. Matthews Cystic Fibrosis Center at Rainbow is world-renowned for its care of children and adults with CF, and is fully accredited with the highest possible rating by the CF Foundation. The model of care - a multidisciplinary team approach that includes physician specialists, nurses, respiratory therapists, dietitians, social workers, and genetic counselors - was first developed by Dr. LeRoy Matthews in the 1950's, and adopted nationwide by CF Care Centers.
Scientists at Rainbow and its academic affiliate, Case School of Medicine, are among the world's most innovative researchers, developing new treatments and leading the search for a cure for CF. The Willard A. Bernbaum Cystic Fibrosis Research Center strives to understand the basic defect of the disease and its consequences, the reasons for the lung infection and inflammation and how to treat it, and methods by which the corrective gene can be introduced into the lung. The fruits of these discoveries come to the patients via The LeRoy W. Matthews Cystic Fibrosis Center and the newly opened KC and Ginny Bryan Pulmonary Diagnostic Center. At these facilities, living a long life is the goal. So successful have the Center's treatments become, that the hospital recently opened a 10 room in-patient unit to provide specialized care exclusively for its CF adult patients.