Is carrier identification a goal of newborn screening for cystic fibrosis?
Carrier identification is NOT a goal of Newborn Screening Ontario, but some babies will be identified as carriers by the screening and diagnosis process described above. Babies who screen positive for cystic fibrosis may have no CF gene mutations, one mutation, or two mutations found during the screening process. Diagnostic sweat testing determines whether a screen positive baby has cystic fibrosis or not; there is almost no chance that a baby with a normal sweat test has cystic fibrosis. Carrier status will be discovered if a screen positive baby with one CF gene mutation has a negative sweat chloride test, and repeat DNA testing confirms that the baby carries one CF mutation.
