Abstract

Since the introduction of the first newborn screening test for phenylketonuria, concerns have been raised about emotional distress in parents who receive false positive (FP) results for other disorders in the newborn screen, including cystic fibrosis (CF). An FP newborn screen for CF is the result of a positive test for immunoreactive trypsinogen, or a positive test of the transmembrane regulator gene for 39 mutations, followed by a negative confirmatory sweat chloride test. To …

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