Women’s Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study

Non-invasive prenatal testing (NIPT) for aneuploidy is currently only available in the UK through the private sector outside of the research arena. As part of an implementation study in the UK National Health Service we conducted a mixed methods study to assess women’s experience of being offered NIPT using validated measures of decisional conflict, decisional regret and anxiety. Clinical service preferences were also explored. Women with a Down syndrome screening risk >1:1000 were invited to take part in the study and offered NIPT, NIPT and invasive testing (for women with a risk above 1:150) or no further testing. A cross-sectional survey and semi-structured interviews were conducted at two time points; at the time of testing and one month following receipt of results (or equivalent for NIPT decliners). In total, 845 questionnaires and 81 interviews were analysed. The main motivation to accept NIPT was for reassurance (30.8%). Decisional conflict occurred in a minimal number of cases (3.8%), however, none of the participants experienced decisional regret. Around a third (29.9%) of women had elevated anxiety at the time of testing, including intermediate risk women who traditionally would not be offered further testing (54.4% high risk; 20.1% medium risk), a finding supported through the qualitative interviews where prolonged or additional anxiety was found to occur in some medium risk cases. Women were overwhelmingly positive about the opportunity to have a test that was procedurally safe, accurate, reduced the need for invasive testing and identified cases of Down syndrome that might otherwise have been missed. Reassurance was identified as the main motivator for accepting NIPT, particularly amongst medium risk women, with high risk women inclined to accept NIPT to inform decisions around invasive testing. The current turnaround time for test result was identified as a key limitation. All the women interviewed thought NIPT should be adopted as part of NHS clinical practice, with the majority favouring NIPT offered as a first-line test. Our study highlights the potential that NIPT has to positively impact women’s experience of prenatal testing for aneuploidy.目前，英国境内针对非整倍体的无创产前检测（Non-invasive prenatal testing, NIPT）仅可通过研究领域外的私营机构提供。作为英国国民保健署（National Health Service, NHS）一项实施性研究的组成部分，本团队开展了一项混合方法研究，采用经过验证的决策冲突、决策后悔及焦虑评估量表，对女性接受NIPT筛查的体验进行评价，并同步探究其临床服务偏好。 研究纳入唐氏综合征筛查风险大于1:1000的女性，根据风险分层提供差异化方案：风险高于1:150的受试者可选择NIPT联合侵入性检测，其余人群则可选择NIPT或不进行进一步检测。研究在两个时间点开展横断面调查与半结构化访谈：分别为检测当日，以及收到检测结果后1个月（未接受NIPT的受试者则按等效时间节点开展访谈）。最终共纳入分析有效问卷845份、访谈记录81份。 受试者接受NIPT的最主要动机为获得安心（占比30.8%）。仅极少数受试者出现决策冲突（占比3.8%），且无任何参与者出现决策后悔。检测当日，约三分之一（29.9%）的女性存在焦虑水平升高的情况，其中包括传统上不会被建议接受进一步检测的中度风险人群：高风险人群中该比例为54.4%，中度风险人群为20.1%。质性访谈结果进一步佐证了这一发现：部分中度风险人群会出现持续或额外的焦虑情绪。 绝大多数受试者对该项检测持肯定态度，认为其操作安全、结果准确，可减少侵入性检测需求，且能够检出此前可能被遗漏的唐氏综合征病例。安心需求被认为是接受NIPT的核心动机，尤其在中度风险人群中更为显著；而高风险人群接受NIPT则多为辅助其制定侵入性检测的相关决策。 当前检测结果周转时长被认为是一项关键局限。所有受访女性均认为NIPT应当纳入NHS临床实践体系，其中多数人支持将NIPT作为一线筛查项目。 本研究凸显了NIPT在积极改善女性非整倍体产前筛查体验方面的潜在价值。