Prenatal Preparation: Actions and Results

摘要 最近产前基因检测的扩大重新引起了残疾倡导者和权利人士的关注。 这些测试主要是为了使选择性终止，然而，作为产前遗传 测试变得更容易，更安全，更容易获得，许多女性说，他们选择它是为了一个非常不同的 理由：准备。这种推理反映了长期以来的假设，即产前遗传的结果-正确地说， 提供信息、临床监测和/或社会支持，使家庭为 这不仅可以帮助患有遗传疾病的儿童，甚至可以改善儿童和家庭的健康和社会成果。然而这 假设仍然未经审查，因为没有明确的定义或建议，产前 准备.这项研究的重点是许多父母谁是决定继续怀孕后，遗传 他们报告说，在寻找他们所需的信息和支持方面遇到了挑战， 抚养有遗传病的孩子对于这些家庭来说，他们希望产前遗传的好处 由于缺乏满足其需要的适当资源，本应提供的信息和准备工作受到阻碍。如果产前 如果检测作为一种准备手段在伦理和社会上是合理的，它必须是一套产前护理的一部分， 了解并满足那些在怀孕后考虑继续怀孕的人的需求的做法。 基因结果本项目的目的是研究利益相关者如何理解 产前准备后，遗传结果，确定由此产生的健康寻求和相关的社会行为 这些利益相关者承担或促成并建立一个概念性的准备模型，以指导未来的研究， （1）通过以下四个目标，确定不同的含义， （2）检查不同的方法， 为接受产前基因检查的家庭提供产前和产后支持， （3）家庭、临床医生和倡导团体优先事项之间的匹配;（4）描述寻求健康和相关的 在三个不同的家庭中，接受产前与产后遗传结果的家庭的社会行为， 地理区域;（4）建立一个概念模型，产前准备后，遗传结果， 以指导未来的研究，并为实践和政策建议提供信息。为了实现这些目标，我们将 采访提供和支持产前遗传结果的临床医生和患者倡导代表 对接受产前遗传学发现和产后诊断的家庭进行纵向采访; 与研究人员、临床医生、生物伦理学家、倡导者和父母组成的专家小组一起审议我们的发现。 通过构建产前准备的多维概念模型，并评估其潜在的伦理， 临床，研究和实践的影响，该项目将导致更多的协调努力， 支持有胎儿遗传问题的家庭。

ABSTRACT Recent expansions in prenatal genetic testing have renewed concerns from both disability advocates and right- to-life movements that these tests serve primarily to enable elective terminations, However, as prenatal genetic testing becomes easier, safer, and more accessible, many women say they choose it for a very different reason: preparation. This reasoning 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. Yet this assumption remains unexamined, since there are no clear definitions or recommendations for prenatal preparation. This study focuses on the many parents who are deciding to continue a pregnancy after a genetic result, and who have reported challenges in finding the information and support they need as they plan for raising a child with a genetic condition. For these families, the very benefit they hoped prenatal genetic information would provide, preparation, is thwarted by a lack of resources appropriate to their needs. If prenatal testing is to be ethically and socially justified as a means of preparation, it must be part of a set of prenatal care practices that understand and meet the needs of those who are considering continuing a pregnancy after a genetic result. The objective of this project is to examine the ways stakeholders understand the meaning of prenatal preparation after a genetic result, determine what resulting health-seeking and related social behaviors these stakeholders undertake or enable, and build a conceptual model of preparation to guide future research, practice and policy development, through the following four Aims: (1) Characterize the varying meanings and activities entailed by preparation following a prenatal genetic finding; (2) Examine varying approaches to prenatal and postnatal support for families who receive a prenatal genetic finding, in order to identify (mis)matches between family, clinician, and advocacy group priorities; (3) Describe health-seeking and related social behaviors among families who receive prenatal vs. postnatal genetic results, in three diverse geographical regions; and (4) Build a conceptual model of prenatal preparation following a genetic result, in order to guide future research and inform practice and policy recommendations. To meet these Aims, we will interview clinicians who deliver and support prenatal genetic results and representatives of patient advocacy groups; longitudinally interview families who receive prenatal genetic findings and postnatal diagnoses; and deliberate on our findings with an expert panel of researchers, clinicians, bioethicists, advocates, and parents. By building a multidimensional conceptual model of prenatal preparation and assessing its potential ethical, clinical, research, and practical implications, this project will lead to more coordinated efforts to inform and support families experiencing a fetal genetic condition.