de Jong Antina, Dondorp Wybo J, Krumeich Anja, Boonekamp Julie, van Lith Jan M M, de Wert Guido M W R
Department of Health, Ethics & Society, Maastricht University, PO Box 616, Maastricht, 6200, MD, The Netherlands,
J Community Genet. 2013 Jan;4(1):125-35. doi: 10.1007/s12687-012-0126-9. Epub 2012 Nov 9.
The increasing number of prenatal diagnostic tests in prenatal screening strategies, raises the question what tests to offer and why. This qualitative study investigated the views and preferences of professionals and potential users regarding four diagnostic test options for women at increased risk for common aneuploidies. Seven focus group sessions were conducted in The Netherlands between October 2009 and June 2010, with various categories of participants (n = 55): professionals engaged in prenatal testing and potential users of this testing (meaning pregnant women and parents of young children). Participants were invited to mention all pros and cons and their preferences regarding four hypothetical diagnostic test options, presented on vignettes: a standard offer of rapid aneuploidy detection, karyotyping or array comparative genomic hybridization, representing a narrow, traditional and broad test, respectively, and the option of individualised choice. Then, a semi-structured group interview was conducted. The data were analysed by the constant comparative method. Participants identified similar test-specific pros and cons but showed different preferences. Users' opinion on what test to offer as a general policy differed from what they would choose themselves. All participants agreed that in theory, users should be enabled to make an informed choice about what test to apply, but they disagreed about the feasibility of this ideal. Standard narrow testing was favoured for its limiting effects on emotional and organisational burdens; individualised choice was preferred for assuring women's decisive influence. The varying opinions reflect different views on what autonomy in the prenatal screening context means, suggest that a single standard test offer is inadequate and that differentiation will be needed.
产前筛查策略中产前诊断检测数量的不断增加，引发了提供哪些检测以及为何提供这些检测的问题。这项定性研究调查了专业人员和潜在用户对于常见非整倍体风险增加的女性的四种诊断检测选项的看法和偏好。2009年10月至2010年6月期间在荷兰进行了七次焦点小组会议，参与者有不同类别（n = 55）：从事产前检测的专业人员以及该检测的潜在用户（即孕妇和幼儿的父母）。参与者被邀请提及关于小场景中呈现的四种假设诊断检测选项的所有优缺点及其偏好：快速非整倍体检测的标准方案、核型分析或阵列比较基因组杂交，分别代表狭义、传统和广义检测，以及个性化选择选项。然后，进行了半结构化小组访谈。数据采用持续比较法进行分析。参与者识别出了类似的特定检测的优缺点，但表现出不同的偏好。用户对于作为一般政策应提供何种检测的意见与他们自己会选择的检测不同。所有参与者都同意，理论上应使用户能够就是否应用何种检测做出明智选择，但他们对于这一理想的可行性存在分歧。标准狭义检测因其对情感和组织负担的限制作用而受到青睐；个性化选择则因确保女性的决定性影响而更受青睐。不同意见反映了在产前筛查背景下自主权意味着什么的不同观点，表明单一标准检测方案是不够的，需要进行区分。
