Reproductive genetic carrier screening (RGCS) allows for the identification of couples who have an increased likelihood of conceiving a child with a particular autosomal recessive or X-linked condition. The aim of this study was to assess the level of satisfaction, anxiety, knowledge retention, psychosocial and counseling-related aspects among couples who chose to have RGCS. Participants were initially informed about their screening results by telephone. After obtaining a written report of test results, participants were asked to complete an individual self-administered questionnaire. All participants (n = 67) felt they had enough information to make an informed choice. None of the participants regretted their choice to have RGCS. Test results were most often shared with parents (61%) or siblings (37%). Our findings demonstrate that the information/counseling and reporting strategy that was used in the context of this study led to high participant satisfaction, an increase in knowledge over time and favorable psychosocial and counseling-related outcomes.
© 2023. The Author(s), under exclusive licence to European Society of Human Genetics.