Knowledge is wealth: investigating psychosocial distress and ameliorating knowledge deficiencies in parents of children identified, through newborn screening in Ireland, as carrying an altered cystic fibrosis gene

Cystic Fibrosis is an inherited disease affecting mainly the lungs and digestive system. In Ireland, the incidence of cystic fibrosis is 1 in 1,461 births, with 1 in 19 Irish people carrying an altered cystic fibrosis gene. Newborn screening for CF was introduced in the Republic of Ireland in July 2011. A consequence of the screening process is the identification of infants who carry an altered CF gene. Significant gaps have been identified in parental understanding of CF newborn screening and the consequences of carrying an altered CF gene. Filling in these gaps in knowledge is our primary means of alleviating the psychological complications which may arise from CF carrier identification. The current intervention study provided parents with a carefully designed information pack, and established how this affected their level of stress, knowledge of CF, as well as their decision to undergo genetic testing. A total of 32 parents took part in telephone interviews. Parents who received an information pack had significantly higher CF knowledge scores than parents in the control group. 44% of parents in the control group misunderstood the health implications of carrying an altered CF gene. There was no significant difference in Parenting Stress Index scores between the groups. Parents of infants who had more than one sweat test due to insufficient sweat quantity had higher overall Parental Stress Index percentiles (50%), than parents of infants who had just one sweat test (30%), indicating greater parental stress. The study recommends six changes to CF newborn screening practices in the Republic of Ireland.