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

Annette M. M. Vernooij-van Langen*, Sandra Reijntjens, Sylvia M. van der Pal, J. Gerard Loeber, Edward Dompeling, Jeannette E. Dankert-Roelse

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

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.
Original languageEnglish
Pages (from-to)192-196
JournalEuropean Journal of Medical Genetics
Volume56
Issue number4
DOIs
Publication statusPublished - Apr 2013

Keywords

  • Newborn screening
  • Cystic fibrosis
  • Carrier
  • DNA analysis
  • Focus group

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