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

ABSTRACT: 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 atten

SUBMITTER: Mathijssen IB 

PROVIDER: S-EPMC5838981 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature