van Schendel Rachèl V, Kleinveld Johanna H, Dondorp Wybo J, Pajkrt Eva, Timmermans Danielle R M, Holtkamp Kim C A, Karsten Margreet, Vlietstra Anne L, Lachmeijer Augusta M A, Henneman Lidewij
Department of Clinical Genetics, Section of Community Genetics, EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
Department of Health, Ethics and Society, Faculty of Health, Medicine and Life Sciences, Research Institutes GROW and CAPHRI, Maastricht University, Maastricht, The Netherlands.
Eur J Hum Genet. 2014 Dec;22(12):1345-50. doi: 10.1038/ejhg.2014.32. Epub 2014 Mar 19.
Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and men towards NIPT, and their views on widening the scope of prenatal testing in a country with a low uptake of prenatal screening (The Netherlands). Five focus groups with low-risk pregnant women (n=28), three focus groups with men (n=19) and 13 interviews with high- and low-risk pregnant women were conducted. Participants felt that current prenatal screening has great disadvantages such as uncertain results and risk of miscarriage from follow-up diagnostics. Characteristics of NIPT (accurate, safe and early testing) could therefore diminish these disadvantages of prenatal screening and help lower the barrier for participation. This suggests that NIPT might allow couples to decide about prenatal testing based mostly on their will to test or not, rather than largely based on fear of miscarriage risk or the uncertainty of results. The lower barrier for participation was also seen as a downside that could lead to uncritical use or pressure to test. Widening the scope of prenatal testing was seen as beneficial for severe disorders, although it was perceived difficult to determine where to draw the line. Participants argued that there should be a limit to the scope of NIPT, avoiding testing for minor abnormalities. The findings suggest that NIPT could enable more meaningful decision-making for prenatal screening. However, to ensure voluntary participation, especially when testing for multiple disorders, safeguards on the basis of informed decision-making will be of utmost importance.
无创产前检测（NIPT）及其检测多种疾病的潜力备受关注。本研究探讨了荷兰（一个产前筛查普及率较低的国家）女性和男性对NIPT的态度，以及他们对扩大产前检测范围的看法。对低风险孕妇进行了5个焦点小组访谈（n = 28），对男性进行了3个焦点小组访谈（n = 19），并对高风险和低风险孕妇进行了13次访谈。参与者认为当前的产前筛查存在很大弊端，如结果不确定以及后续诊断导致流产的风险。因此，NIPT的特点（准确、安全且检测早）可以减少产前筛查的这些弊端，并有助于降低参与门槛。这表明NIPT可能使夫妇在很大程度上能够根据自身检测意愿来决定是否进行产前检测，而不是主要基于对流产风险或结果不确定性的担忧。参与门槛降低也被视为一个弊端，可能导致不加批判地使用检测或检测压力。扩大产前检测范围被认为对严重疾病有益，尽管人们认为很难确定界限在哪里。参与者认为NIPT的范围应该有限制，避免检测轻微异常。研究结果表明，NIPT可以使产前筛查的决策更有意义。然而，为确保自愿参与，尤其是在检测多种疾病时，基于知情决策的保障措施至关重要。
