Department of Prenatal Diagnosis, State Key Laboratory of Reproductive Medicine, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, 210004, People's Republic of China.
Department of Epidemiology and Biostatistics, Center for Global Health, Nanjing Medical University, Nanjing, 211166, People's Republic of China.
J Assist Reprod Genet. 2021 Mar;38(3):697-707. doi: 10.1007/s10815-020-02032-w. Epub 2021 Jan 6.
A growing number of Chinese individuals of reproductive age will face the choice of accepting or refusing expanded carrier screening (ECS). This study aimed to explore the awareness, wishes, and possible misconceptions of ECS among this population, as well as factors affecting their decision-making.
Chinese reproductive-aged individuals in Eastern China who sought cell-free fetal DNA screening and peripheral blood karyotype were invited to complete a 31-item ECS survey by scanning a specific quick response code. We evaluated the relationship between awareness, attitudes, and intentions to participate in ECS, along with possible misconceptions.
Overall, 93.1% of participants intended to undergo ECS at their expenses, and 53.6% indicated they would pay less than 1000 CNY (approximately 145 USD) for the test. Around 96.5% of participants had misconceptions about ECS and genetic diseases. Participants whose first reaction was interest, who had prior awareness of the test, or who perceived benefits were more likely to intend to use ECS (p < 0.001). Participants with a bachelor's degree or above or with a household income over 150,000 CNY (approximately 21,700 USD) would be more likely to pay ≥ 1000 CNY (p < 0.05).
Our study indicates that overall, the Eastern Chinese reproductive-aged population has positive attitudes towards ECS, although there are some misconceptions about ECS and genetic disorders. Population-based ECS appears to be desired by the reproductive-aged people in Eastern China. Steps should be taken to offer ECS along with pre- and post-test education and genetic counseling to raise awareness and to reduce misconceptions.
越来越多的中国育龄人群将面临接受或拒绝扩展携带者筛查（ECS）的选择。本研究旨在探讨该人群对 ECS 的认识、意愿和可能的误解，以及影响他们决策的因素。
邀请在华东地区寻求游离胎儿 DNA 筛查和外周血核型分析的中国育龄人群通过扫描特定的二维码完成一份 31 项 ECS 调查问卷。我们评估了意识、态度和参与 ECS 的意愿之间的关系，以及可能的误解。
总体而言，93.1%的参与者打算自费进行 ECS，53.6%的参与者表示愿意支付低于 1000 元人民币（约合 145 美元）的费用进行该测试。约 96.5%的参与者对 ECS 和遗传疾病存在误解。对 ECS 持第一反应感兴趣、对该测试有先验认识或认为有好处的参与者更有可能打算使用 ECS（p<0.001）。拥有本科及以上学历或家庭收入超过 15 万元人民币（约合 21700 美元）的参与者更有可能支付≥1000 元人民币（p<0.05）。
我们的研究表明，总体而言，华东地区的育龄人群对 ECS 持积极态度，尽管对 ECS 和遗传疾病存在一些误解。华东地区的育龄人群似乎希望进行基于人群的 ECS。应采取措施提供 ECS 以及测试前和测试后的教育和遗传咨询，以提高认识并减少误解。
