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To know or not to know, disclosure of a newborn carrier screening test result for cystic fibrosis

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Author: Vernooij-van Langen, A.M.M. · Reijntjens, S. · Pal, S.M. van der · Loeber, J.G. · Dompeling, E. · Dankert-Roelse, J.E.
Source:European Journal of Medical Genetics, 4, 56, 192-196
Identifier: 471475
doi: doi:10.1016/j.ejmg.2013.01.006
Keywords: Health · Carrier · Cystic fibrosis · DNA analysis · Focus group · Newborn screening · Healthy for Life · Healthy Living · Human · CH - Child Health · BSS - Behavioural and Societal Sciences


Purpose: Most newborn screening (NBS) strategies for Cystic Fibrosis (CF) also identify carriers. However, it is unclear if parents want to be informed about their child's carrier status or not. Methods: Focus group discussions with pregnant couples to explore their opinions about disclosure of a carrier result for CF of their newborn. Results: All (n = 30) wanted to be informed when newborn screening would show their newborn being a CF-carrier. Their main reason was the implication of this knowledge for further family planning. Other family members could be informed and children within the family could be tested. Parents stated they have the right to know, but others also expressed that the choice of not being informed should be offered as well. Conclusion: Most parents want to be informed when NBS for CF reveals that their child is a CF-carrier, but the choice of not being informed should also be offered. © 2013 Elsevier Masson SAS.