10/02/97- Updated 11:12 AM ETRoutine screening of newborns for cystic fibrosis could prevent malnutrition among infants with the disease, a study found.
Cystic fibrosis is one of America's most common fatal inherited diseases. It allows mucus to clog the lungs and also affects the pancreas, harming digestion and the absorption of vitamins. Without treatment, most patients die in infancy or childhood from malnutrition or lung infections.
Routine screening is offered only in Wisconsin and Colorado now because a 1983 task force appointed by the U.S. Cystic Fibrosis Foundation said the screening tests were too unreliable and the benefits of early treatment unclear.
However, a study in Thursday's New England Journal of Medicine found that a newer screening test allows infants to be diagnosed much earlier and get a head start on nutritional therapy and other treatment.
In an accompanying editorial, two cystic fibrosis researchers from the Netherlands called for routine neonatal screening for cystic fibrosis.
"The evidence has accumulated that early diagnosis and treatment are beneficial and that screening probably saves money and carries no harm of its own," wrote Dr. Jeannette Eankert-Roelse of Free University in Amsterdam and Gerard te Meerman of the University of Groningen.
The study, led by Dr. Philip Farrell, dean of the University of Wisconsin Medical School, looked at 650,341 children born in Wisconsin from 1985 to 1994.
Half got a routine screening test. Until 1991, that was a blood test for trypsinogen, a chemical released by the pancreas. Starting in 1991, the researchers followed up an abnormal trypsinogen test with a genetic test they had developed.
The two tests combined cost an average of $3 per newborn, because the trypsinogen test can be fully automated and the genetic test is given only to a small number of infants, Farrell said.
The other babies in the study were diagnosed the standard way: based on their symptoms or a family history of the disease followed by diagnostic tests.
Those who were screened after birth were diagnosed at an average age of 12 weeks, compared with more than 16 months for the others. Nine of the 67 children with cystic fibrosis in the unscreened group were not diagnosed until age 4.
The children in the unscreened group showed more severe signs of malnourishment for their age, including stunted growth, low weight and smaller head circumference.
It took them five years to catch up in weight to those who got early screening and nutritional therapy and, in 10 years of follow-up, they never caught up in height.
Continuing studies on the same group of patients may also show that early treatment leads to fewer lung problems, a longer lifespan and higher intelligence, Farrell said.
About 30,000 Americans have cystic fibrosis. The average lifespan for people with the disease is 30 years, up from 6 years in 1954.
A spokeswoman for the Cystic Fibrosis Foundation in Bethesda, Md., had no comment Wednesday on whether the foundation planned to change its policy on neonatal screening.
But Carolyn Habbersett said the foundation has high regard for Farrell's research. "We have always said it's important that children get diagnosed as early as possible because there are such specific drugs available ... to help the child," she said.
By The Associated Press
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