Department of Prenatal diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China.
Department of Gynecology, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China.
J Genet Couns. 2023 Aug;32(4):823-832. doi: 10.1002/jgc4.1691. Epub 2023 Feb 12.
Spinal muscular atrophy (SMA) is an autosomal recessive and often fatal neurological disease. However, very little is known about the attitudes toward SMA carrier screening among Chinese pregnant people. In this study, pregnant women in Eastern China who were undergoing routine chromosomal screening programs were invited to view an educational video about SMA and complete a 26-item survey regarding their attitudes toward SMA screening by scanning a specific quick response code. A total of 1673 questionnaires were collected, and 81.1% of respondents were willing to undergo self-funded screening. If the screening program were included in the medical insurance, 97.8% of respondents were willing to accept screening. The important reasons for supporting SMA screening were a belief that it could help them make better reproductive decisions and avoid having a child with SMA. The key reason for declining SMA screening was not having a family history of genetic diseases. A higher score for SMA genetics knowledge was associated with a greater willingness to undergo SMA screening. We concluded that pregnant women in Eastern China had positive attitudes toward SMA carrier screening. Improving genetic knowledge and including the screening program in medical insurance would support the widespread implementation of SMA carrier screening. Steps should be taken to offer SMA carrier screening along with pre- and posttest education and genetic counseling to raise awareness and reduce misconceptions regarding SMA.
脊髓性肌萎缩症（SMA）是一种常染色体隐性遗传且通常致命的神经疾病。然而，目前对于中国孕妇对 SMA 携带者筛查的态度知之甚少。在这项研究中，邀请了正在接受常规染色体筛查计划的中国东部孕妇观看有关 SMA 的教育视频，并通过扫描特定的快速响应码完成了一份 26 项关于他们对 SMA 筛查态度的调查。共收集了 1673 份问卷，81.1%的受访者愿意自费进行筛查。如果筛查计划纳入医疗保险，97.8%的受访者愿意接受筛查。支持 SMA 筛查的重要原因是相信它可以帮助他们做出更好的生育决策，并避免生育 SMA 患儿。拒绝 SMA 筛查的主要原因是没有遗传疾病家族史。SMA 遗传学知识得分越高，越愿意接受 SMA 筛查。我们的结论是，中国东部的孕妇对 SMA 携带者筛查持积极态度。提高遗传知识并将筛查计划纳入医疗保险将有助于 SMA 携带者筛查的广泛实施。应采取措施提供 SMA 携带者筛查以及产前和产后教育和遗传咨询，以提高对 SMA 的认识并减少误解。
