Objective: To evaluate associations between prenatal trio exome sequencing (trio-ES) and psychological outcomes among women with an anomalous pregnancy. Methods: Trio-ES study enrolling patients with major fetal anomaly and normal microarray. Women completed self-reported measures and free response interviews at two time points, pre- (1) and post- (2) sequencing. Pre-sequencing responses were compared to post-sequencing responses; post-sequencing responses were stratified by women who received trio-ES results that may explain fetal findings, secondary findings (medically actionable or carrier couple status), or negative results. Free responses were content analyzed. Results: 115 trios were enrolled. Of those, 41/115 (35.7%) received results from trio-ES, including 36 (31.3%) who received results that may explain the fetal phenotype. These women had greater post-sequencing distress compared to women who received negative results, including generalized distress (p=0.03) and test-related distress (p=0.2); they also had worse psychological adaptation to results (p=0.001). Genomic knowledge did not change from pre- to post-sequencing (p=0.51). Major themes from content analyses included closure, future pregnancy, altruism, anxiety, and gratitude. Conclusions: Women show more distress after receiving trio-ES results compared to those who do not.

中文翻译：

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胎儿基因诊断的产前外显子组测序对预期队列中母亲心理结局和决策冲突的影响

目的：评估异常妊娠妇女的产前三重基因外显子组测序（trio-ES）与心理结果之间的关联。方法：Trio-ES研究招募具有重大胎儿异常和正常芯片的患者。妇女在（1）排序前和（2）排序后两个时间点完成了自我报告的措施和免费的访谈。将测序前反应与测序后反应进行比较；测序后的反应按获得三重ES结果的妇女进行分层，这些结果可以解释胎儿发现，次要发现（可治疗或携带者的伴侣状态）或阴性结果。分析了免费回复的内容。结果：115位三重奏参加了比赛。在这些人中，有41/115（35.7％）的患者来自trio-ES，包括36（31.3％）的人可以解释胎儿的表型。与接受阴性结果的妇女相比，这些妇女的测序后困扰更大，包括普遍困扰（p = 0.03）和与测试有关的困扰（p = 0.2）；他们对结果的心理适应也较差（p = 0.001）。基因组知识从测序前到测序后都没有变化（p = 0.51）。内容分析的主要主题包括封闭，未来怀孕，无私，焦虑和感激之情。结论：与未接受三重ES结果相比，女性表现出更大的困扰。内容分析的主要主题包括封闭，未来怀孕，无私，焦虑和感激之情。结论：与未接受三重ES结果相比，女性表现出更大的困扰。内容分析的主要主题包括封闭，未来怀孕，无私，焦虑和感激之情。结论：与未接受三重ES结果相比，女性表现出更大的困扰。