Genetics Department, Hadassah Medical Center, Jerusalem, Israel.
Faculty of Medicine, Institute for Medical Research Israel-Canada, The Hebrew University of Jerusalem, Israel.
Prenat Diagn. 2021 Feb;41(3):376-383. doi: 10.1002/pd.5856. Epub 2020 Nov 12.
Chromosomal-microarray-analysis (CMA) can identify variants of uncertain clinical significance, susceptibility-loci for neurodevelopmental conditions, and risk for adult-onset conditions. We explored choices made by couples undergoing prenatal CMA, their understanding of these findings, reasons for and against receiving them, and whether they believe parents or professionals should decide which are disclosed.
Semi-structured interviews were conducted with women (n = 27) or their partners (n = 15) during the week following prenatal CMA testing and analyzed using grounded theory.
Over half the interviewees (55%) recalled at least two of the three types of CMA results they chose whether to receive. Sixty-four percent found the choice simple, whereas 36% found it difficult. All participants could clearly explain their choices, which were based on the perceived actionability and psychological impact of the information. Sixty percent viewed their choice favorably, whereas ~21% would have preferred clinicians to decide for them. More women than men, and more decisive than indecisive participants supported parental choice.
Overall, expectant parents can make informed choices about which uncertain findings about their fetuses they wish to receive, and value the opportunity to tailor results to their values and wishes. Arguments presented provide the basis for a decision-aid tool for expecting parents.
染色体微阵列分析（CMA）可以识别临床意义不确定的变异、神经发育疾病的易感基因座，以及成年发病疾病的风险。我们探讨了接受产前 CMA 的夫妇所做的选择、他们对这些发现的理解、接受或拒绝的原因，以及他们是否认为应该由父母还是专业人员来决定披露哪些发现。
在产前 CMA 检测后的一周内，对 27 名女性（n=27）或其伴侣（n=15）进行了半结构化访谈，并使用扎根理论进行了分析。
超过一半的受访者（55%）至少回忆起他们选择接受的三种 CMA 结果中的两种。64%的人认为选择很简单，而 36%的人认为选择很困难。所有参与者都能清楚地解释他们的选择，这些选择基于信息的可操作性和心理影响。60%的参与者对自己的选择表示满意，而~21%的参与者希望由临床医生为他们做出决定。更多的女性而非男性，以及更果断的参与者支持父母的选择。
总的来说，准父母可以就他们希望接受哪些关于胎儿的不确定发现做出明智的选择，并重视有机会根据自己的价值观和愿望定制结果。提出的论点为预期父母提供了一个决策辅助工具的基础。
