As prenatal genetic testing technologies have become both easier and more accessible, women are increasingly choosing prenatal genetic testing for a reason that is largely unexamined in the clinical literature: preparation. This reasoning, offered not only from pregnant women but frequently from testing laboratories and health care providers, reflects long‐held assumptions that prenatal genetic results—properly delivered and followed with information, clinical surveillance, and/or social supports—prepare families for a child with a genetic condition, and even improve health and social outcomes for children and families. But these assumptions remain unexamined, since there are no clear definitions or recommendations for prenatal preparation. Preparation may refer to several overlapping ways in which prenatal information may change parents' approach to the rest of the pregnancy, including: (a) clinical activities, including surveillance, interventions, and delivery planning; (b) social and informational support, such as interacting with patient support groups and gathering information about quality of life; and (c) psychological “coping” or adjustments to the reality of raising a child with a genetic condition. These meanings and activities intersect and influence one another and form a foundation for postnatal family adaptation, but they are rarely parsed out in studies examining the impact of prenatal diagnosis. Based on previous work delineating conceptual models as middle terms between theory and reality, we are building a conceptual model that incorporates an empirical understanding of meanings and actions encompassed by prenatal preparation. Comparing diverse families' expectations with the resources they are offered can identify (mis)matches between priorities and approaches.

中文翻译：

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准备是进行产前基因检测的好理由吗？伦理和批判性问题。

随着产前基因检测技术变得更容易和更容易获得，越来越多的女性选择产前基因检测的原因在临床文献中基本上没有得到检验：准备。这种推理不仅来自孕妇，而且经常来自检测实验室和医疗保健提供者，反映了长期以来的假设，即产前遗传结果——正确提供并遵循信息、临床监测和/或社会支持——为家庭准备孩子有遗传病，甚至可以改善儿童和家庭的健康和社会结果。但这些假设仍未得到检验，因为对产前准备没有明确的定义或建议。准备可能是指产前信息可能会改变父母的几种重叠方式 怀孕剩余时间的处理方法，包括： (a) 临床活动，包括监测、干预和分娩计划；(b) 社会和信息支持，例如与患者支持小组互动和收集有关生活质量的信息；(c) 心理上的“应对”或对抚养有遗传病的孩子的现实的调整。这些意义和活动相互交叉、相互影响，构成了产后家庭适应的基础，但在检查产前诊断影响的研究中很少被解析。基于先前将概念模型描述为理论与现实之间的中间术语的工作，我们正在构建一个概念模型，该模型结合了对产前准备所包含的意义和行动的经验理解。比较不同家庭的