State Newborn Screening in the Tandem Mass Spectrometry Era

More Tests, More False-Positive Results

The introduction of tandem mass spectrometry provides an efficient way for testing newborns for multiple disorders. This study assesses how state newborn screening programs have changed screening practices in response to this technology and how these changes have affected the number of false-positive test results for various disorders. Researchers used data from the National Newborn Screening and Genetics Resource Center to determine the number of mandated disorders added to state newborn screening panels between 1995 and 2005. The number of newborns potentially receiving false-positive test results was calculated using reported specificities from the existing literature, an estimated individual disease prevalence and reported state birth rates.

Key Findings

  • In 1995, the average state mandated newborn screening was for five disorders.
  • Between 1995 and 2005, the average state added 19 disorders to their screening panels, with five states adding 40 or more disorders. Two states did not add any disorders and one state decreased the number of disorders on their panel.
  • Depending on the specificity of each screening test, an estimated 2,575 to 51,059 infants would have received false-positive results through screening with tandem mass spectrometry in 2005.

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