Estimating the annual number of false negative cystic fibrosis newborn screening tests

摘要

Cystic fibrosis (CF) is a relatively common, life-threatening, autosomal recessive disease that can now be diagnosed routinely through newborn screening using immunoreactive trypsinogen (IRT) as the primary analyte or first tier. Rock et al. describe the many possible causes of false negative (FN) results that can occur after newborn screening for CF but do not quantify the number of such missed cases that might be expected in a defined region (i.e., state, province, or country). We would like to extend that description by summarizing useful methods applied to the U.S. and sharing information discovered while estimating the annual number of CF screening FNs in each state. Nationwide screening for CF was underway during 2010 using either the IRT/IRT (15 states plus DC) or IRT/ DNA (35 states) strategy. Our intent in calculating the potential number of FNs/year was to evaluate the magnitude of the challenge as related to screening method and provide states with estimates of what should be expected in future years as these missed cases are diagnosed based on signs/symptoms. In addition, we sought to determine the proportion of newborns screened by each method and the implications with regard to FNs.