Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center "Sphinx", Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
Psychosocial department, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
J Genet Couns. 2021 Apr;30(2):457-469. doi: 10.1002/jgc4.1332. Epub 2020 Sep 17.
Preconception expanded carrier screening (ECS) aims to identify couples with an increased risk of having a child with an autosomal recessive (AR) disorder before pregnancy, thereby enabling reproductive choices. Genetic knowledge and experiential knowledge both influence the uptake of ECS. As people in the general public often lack such knowledge, it is essential to provide appropriate and understandable information when offering ECS. This study investigated the effect of an educational video, compared to an educational text, on the knowledge and attitudes toward preconception ECS in the general population. Both the text and video consisted of a brief educational summary on AR inheritance and on the type of disorders included in ECS, with the progressive neurodegenerative condition mucopolysaccharidosis type III (MPS III) as an example. Participants in the reproductive age were invited in collaboration with a research agency. Respondents (N = 789) were offered an educational video prior to completing an online questionnaire that examined genetic knowledge, the perceived severity of MPS III, perceived risk, and attitudes toward ECS. Outcomes were compared to reference data collected previously in which respondents had been offered an educational text (N = 781). We first again studied the attitudes toward ECS in a smaller educational text group (N = 266) in order to assess whether attitudes had changed over time due to increased media coverage on ECS, which did not reveal any significant changes. Respondents who were offered the video had a better genetic knowledge, perceived MPS III as more severe, perceived their risks higher and were more likely to participate in ECS compared to those who were offered text. Online video may well be used as supportive tool to the genetic counseling process, creating more knowledge on ECS and severe genetic disorders included in preconception screening panels.
孕前扩展携带者筛查（ECS）旨在识别有生育常染色体隐性（AR）疾病患儿风险增加的夫妇，从而使他们能够做出生育选择。遗传知识和经验知识都会影响 ECS 的采用。由于普通公众通常缺乏此类知识，在提供 ECS 时，提供适当和易于理解的信息非常重要。本研究调查了教育视频与教育文本相比对普通人群中孕前 ECS 知识和态度的影响。文本和视频都包含了关于 AR 遗传和 ECS 中包含的疾病类型的简短教育摘要，以进行性神经退行性疾病黏多糖贮积症 III 型（MPS III）为例。生殖年龄的参与者是与一家研究机构合作邀请的。被邀请者（N=789）在完成在线问卷之前先观看了一个教育视频，该问卷检查了他们的遗传知识、对 MPS III 的感知严重程度、感知风险和对 ECS 的态度。结果与之前提供教育文本时（N=781）收集的参考数据进行了比较。我们首先再次研究了在一个较小的教育文本组（N=266）中对 ECS 的态度，以评估由于对 ECS 的媒体报道增加而导致态度是否随时间发生了变化，但没有发现任何明显变化。与提供文本的人相比，观看视频的人具有更好的遗传知识，认为 MPS III 更严重，认为自己的风险更高，更有可能参与 ECS。在线视频很可能被用作遗传咨询过程的辅助工具，增加对 ECS 和包括在孕前筛查面板中的严重遗传疾病的了解。
