Variants of unknown significance (VUS) and susceptibility loci (SL) are a challenge in prenatal genetic counseling. The aim of this study was to explore how such uncertain genetic results are communicated, negotiated, and made meaningful by genetics healthcare providers and couples in the actual clinical setting where results are delivered. The study was based on an anthropological approach and the material consisted of observations and audio‐recordings from 16 purposively sampled genetic counseling sessions where prenatal testing had identified an inherited or de novo VUS or SL result. Field notes and transcripts from audio‐recordings were analyzed using thematic analysis. The analysis identified a number of specific interpretations and strategies that clinical geneticists and couples collectively used for dealing with the ambiguity of the result. Thus, the analysis resulted in a total of three themes, each with 3–4 subthemes. The theme ‘Setting the scene’ describes the three‐stage structure of the consultation. The theme ‘Dealing with uncertainty’ includes ‘normalizing strategies’ that emphasized the inherent uncertainty in human life in general and ‘contextualizing strategies’ that placed the result in relation to the surrounding society, where technological developments lead to new and unforeseen challenges. The theme ‘Regaining control’ includes interpretations that made the knowledge useful by focusing on the value of being prepared for potential, future challenges. Other strategies were to book an extra scan—to reconfirm fetal structural health and to reconnect to the pregnancy. Finally, inquiring about the sex was clearly a way for the couple to signal their investment in the pregnancy. Based on the analysis, we propose that these interpretations served to transform and reduce ambiguity through a process of reconfiguring the biomedical information into knowledge that resonated with the couples' lifeworlds. In this process, both geneticist and couples drew on wider social and moral concerns about uncertainty and responsibility.

中文翻译：

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遗传学家和准父母如何解释和协商不确定的产前遗传结果？临床相互作用分析。

未知显着性（VUS）和易感基因座（SL）的变体在产前遗传咨询中是一项挑战。这项研究的目的是探索遗传学保健提供者和夫妇在交付结果的实际临床环境中如何传达，协商和使这种不确定的遗传结果有意义。该研究基于人类学方法，材料包括观察和音频记录，这些观察和音频记录来自16个有针对性的基因咨询会议，其中，产前测试已鉴定出遗传性或新生的VUS或SL结果。使用主题分析对录音的现场笔记和成绩单进行了分析。分析确定了临床遗传学家和夫妻共同用于处理结果歧义性的许多具体解释和策略。因此，分析得出总共三个主题，每个主题都有3-4个子主题。“设置场景”主题描述了咨询的三个阶段结构。“应对不确定性”的主题包括强调总体人类生活中固有的不确定性的“规范化策略”和将结果置于与周围社会相关的“上下文化策略”中，技术发展带来了新的和无法预见的挑战。“重新控制”主题包括一些解释，这些解释通过侧重于为潜在的未来挑战做好准备的价值而使知识变得有用。其他策略是预订额外的扫描，以重新确认胎儿的结构健康并重新连接到怀孕。最后，询问性别显然是夫妻俩表达对怀孕投资的一种方式。在分析的基础上，我们建议这些解释通过将生物医学信息重新配置为与夫妻的生活世界产生共鸣的知识的过程来转变和减少歧义。在这个过程中，遗传学家和夫妻双方都对不确定性和责任感产生了更广泛的社会和道德关注。