Mandatory Cystic Fibrosis Testing for Florida Newborns

Alison Young

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On September 17, 2007 the State of Florida began newborn screening for Cystic Fibrosis. CF affects approximately 30,000 Americans and people diagnosed with the disease live, on average, to 37. While great strides have been made in the treatment and diagnosis of CF, there is still no known cure.

By screening newborns for elevated IRT levels (Immunoreactive Trypsinogen), it is hoped that early diagnosis will allow for aggressive treatment in the first years of life which will ultimately lead to greater life expectancy as the child matures. Newborns with elevated IRT levels will then be screened for 43 DNA mutations commonly known to be associated with CF. If two of these mutations are detected, the child is presumed to have cystic fibrosis. If only one is detected, the child still may have CF, but will need a specialized sweat test to confirm or rule out a diagnosis. The sweat test measures the levels of sodium and chloride in the infant's sweat, a key marker in patients with cystic fibrosis.

While the tests are for the most part painless, the emotional toll taken on otherwise unsuspecting parents can be enormous. The national Cystic Fibrosis Foundation provides support resources as well as a large database of information for parents and patients alike to arm themselves with the latest information on CF detection, diagnosis and treatment.