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.

中文翻译：

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孕前扩大携带者筛查：文本或视频呈现的信息对遗传知识和态度的影响


孕前扩大携带者筛查 (ECS) 旨在识别怀孕前生育患有常染色体隐性遗传 (AR) 疾病的孩子的风险较高的夫妇，从而实现生殖选择。遗传知识和经验知识都会影响 ECS 的吸收。由于公众往往缺乏这方面的知识，因此在提供 ECS 时提供适当且易于理解的信息至关重要。本研究调查了教育视频与教育文本相比，对普通人群对先入为主的 ECS 的知识和态度的影响。文本和视频均包含有关 AR 遗传和 ECS 中所含疾病类型的简短教育摘要，以进行性神经退行性疾病 III 型粘多糖贮积症 (MPS III) 为例。与研究机构合作邀请育龄参与者。受访者 ( N = 789) 在完成在线调查问卷之前观看了一段教育视频，该调查问卷检查了遗传知识、MPS III 的感知严重性、感知风险以及对 ECS 的态度。结果与之前收集的参考数据进行了比较，其中向受访者提供了教育文本（ N = 781）。我们首先再次研究了较小的教育文本组 ( N = 266) 对 ECS 的态度，以评估态度是否随着时间的推移而发生变化，因为媒体对 ECS 的报道增加，但没有揭示任何重大变化。与那些收到文本的受访者相比，收到视频的受访者有更好的遗传知识，认为 MPS III 更严重，认为自己的风险更高，并且更有可能参与 ECS。 在线视频很可能被用作遗传咨询过程的支持工具，创造更多有关 ECS 和孕前筛查小组中包含的严重遗传性疾病的知识。