Benefits and Risks of Newborn Screening for Cystic Fibrosis
Benefits and Risks of Newborn Screening for Cystic Fibrosis
Although cystic fibrosis (CF) is the most common, life-threatening autosomal recessive
 genetic disorder of the white population, there are often delays in diagnosis and hence start
 of treatment. Advances of the past two decades have made CF screening feasible using
 routinely collected neonatal blood specimens and measuring an enzyme level followed by CF
 mutation DNA analysis. Our overall goal of the study is to see if early diagnosis of CF
 through neonatal screening will be medically beneficial without major risks. ''Medically
 beneficial'' refers to better nutrition and/or pulmonary status, whereas '' risks'' include
 laboratory errors, miscommunication or misunderstanding, and adverse psychosocial
 consequences. Specific aims include assessment of the benefits, risks, costs, quality of
 life, and cognitive function associated with CF neonatal screening and a better understanding
 of the epidemiology of CF.

 A comprehensive, randomized clinical trial emphasizing early diagnosis as the key variable
 has been underway since 1985. Nutritional status has been assessed using height and weight
 measurements and biochemical methods. The results have demonstrated significant benefits in
 the screened (early diagnosis) group. We are now focusing on the effect of early diagnosis of
 CF on pulmonary outcome. Pulmonary status is measured using chest radiographs, chest scans
 using high resolution computerized tomography, and pulmonary function tests. Other factors
 that we are looking at include risk factors for the acquisition of respiratory pathogens such
 as Pseudomonas aeruginosa, quality of life and cognitive function of children with CF who
 underwent early versus delayed diagnosis, as well as the cost effectiveness of screening and
 the costs of diagnosis and treatment of CF throughout childhood.

 If the questions underlying this study are answered favorably, it is likely that neonatal
 screening using a combination of enzyme level (immunoreactive trypsinogen) and DNA test will
 become the routine method for identifying new cases of CF not only in the State of Wisconsin,
 but throughout the country.
Inclusion Criteria:

 -  Must have been born in the State of Wisconsin

 -  Must have been born between April 15, 1985 and June 30, 1994

 -  Must have had a valid newborn screening test for cystic fibrosis in the first 28 days
 of life.

 -  Must have a sweat chloride test greater or equal to 60 mmol/Liter

 -  Parental consent