Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

Inge B. Mathijssen, Kim C. A. Holtkamp, Cecile P. E. Ottenheim, Janneke M. C. van Eeten-Nijman, Phillis Lakeman, Hanne Meijers-Heijboer, Merel C. van Maarle, Lidewij Henneman

Research output: Contribution to journalArticleAcademicpeer-review

17 Citations (Scopus)


Technological developments have enabled carrier screening for multiple disorders. This study evaluated experiences with a preconception carrier screening offer for four recessive disorders in a Dutch founder population. Questionnaires were completed by 182 attendees pretesting and posttesting and by 137 non-attendees. Semistructured interviews were conducted with seven of the eight carrier couples. Attendees were mainly informed about the existence of screening by friends/colleagues (49%) and family members (44%). Familiarity with the genetic disorders was high. Knowledge after counseling increased (p  < 0.001); however, still 9%, compared to 29% before counseling, wrongly mentioned an increased risk of having an affected child if both parents are carriers of different disorders. Most attendees (97%) recalled their test results correctly, but two couples reported being carrier of another disorder than reported. Overall, 63% felt worried while waiting for results but anxiety levels returned to normal afterwards. In all, 2/39 (5%) carriers felt less healthy. Screened individuals were very satisfied; they did not regret testing (97%) and would recommend testing to others (97%). The majority (94%) stated that couples should always have a pretest consultation, preferably by a genetic counselor rather than their general practitioner (83%). All carrier couples made reproductive decisions based on their results. Main reason for non-attendance was unawareness of the screening offer. With expanded carrier screening, adequately informing couples pretest and posttesting is of foremost importance. Close influencers (family/friends) can be used to raise awareness of a screening offer. Our findings provide lessons for the implementation of expanded carrier screening panels in other communities and other settings
Original languageEnglish
Pages (from-to)166-175
JournalEuropean journal of human genetics
Issue number2
Early online date2018
Publication statusPublished - Feb 2018

Cite this