A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosis

PURPOSE: Newborn screening (NBS) for cystic fibrosis (CF) can identify carriers, which is considered a benefit that enables reproductive planning. We examined the reproductive impact of carrier result disclosure from NBS for CF. METHODS: We surveyed mothers of carrier infants after NBS (Time-1) and one-year later (Time-2) to ascertain intended and reported communication of their infants’ carrier results to relatives, carrier testing for themselves/other children and reproductive decisions. A sub-sample of mothers was also interviewed at Time-1 and Time-2. RESULTS: Response rate was 54%. Just over half (55%) of mothers carrier tested at Time-1; a further 40% of those who intended to test at Time-1 tested at Time-2. Carrier result communication to relatives was high (92%), but a majority of participants did not expect the results to influence family planning (65%). All interviewed mothers valued learning their infants’ carrier results. Some had carrier testing and shared results with family. Others did not use the results or used them in unintended ways. CONCLUSION: While mothers valued learning carrier results from NBS, they reported moderate uptake of carrier testing and limited influence on family planning. Our study highlights the secondary nature of the benefit from disclosing carrier results from NBS.