Beginning tomorrow, all of Ohio's babies will be tested for cystic fibrosis.
The test for cystic fibrosis, and for a malady called carnitine uptake deficiency that is being added tomorrow, bring to 32 the number of diseases for which newborns will be tested in the state.
"I think Ohio has really done well,'' said Dr. Philip Farrell, the Cystic Fibrosis Foundation's national facilitator for newborn screening. "There's been careful planning meticulously dealing with a whole range of issues."
In the case of both conditions - the rare carnitine uptake deficiency, which effects one in 100,000 people, and the far more common cystic fibrosis, occurring in one in 6,000 people - early diagnosis improves outcome.
Carnitine deficiency, a defect of fat metabolism, can be treated with carnitine supplements, thereby preventing brain, liver, and heart malfunctions that can lead to death.
"Early diagnosis for cystic fibrosis always equates to earlier treatment, and more likely longer survival,'' said Dr. Pierre A. Vauthy, director of the Northwest Ohio Cystic Fibrosis Center.
But until recent years, there was some debate on the benefits of early diagnosis of cystic fibrosis.
In 1997, when the U.S. Centers for Disease Control and Prevention looked at the issue, it wasn't certain whether lung function could be improved by early intervention, Dr. Farrell said.
Lost lung function, caused by the buildup of thick mucus secretions, is the major symptom of cystic fibrosis.
But treatment has improved the survival of patients, boosting the median survival age from 4 about 25 years ago to 37 today, Dr. Vauthy said.
Early intervention has improved as well.
One concern about any newborn testing is the number of false positives.
"There are many more false positives than true positives for any newborn screening that's done," Dr. Farrell said. One infant disease has a rate of 100 false positives for every true positive. The false positive rate for cystic fibrosis is closer to 10 to 1.
All newborn screening in Ohio starts with a needle stick in the infant's heel. Carnitine uptake deficiency is tested by spectro-graphy, as are many other infant diseases.
The cystic fibrosis test is more complicated.
First, the blood is tested for levels of a substance called trypsinogen. If trypsinogen is elevated, the blood is screened for genetic mutations. Although there are 1,400 known mutations associated with cystic fibrosis, Ohio tests for the 23 most common, which means it will catch about 90 percent of all cystic fibrosis cases, Dr. Vauthy said.
Considering the state of diagnosis today, that's a significant improvement. Dr. Vauthy said in the last two weeks, his clinic has diagnosed cystic fibrosis in seven people. The youngest was 2 weeks. The oldest was 27. He once even made a diagnosis in a 52-year-old patient.
The cost of newborn screening will increase $10 to $55.16. Some hospitals pass the cost on to the patient.
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