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倡导者的担忧。 然而，这些检测主要用于实现选择性终止，作为产前基因 检测变得更容易、更安全、更容易，许多女性表示，她们选择它是为了一种非常不同的 理由：准备。这一推理反映了长期以来的假设，即产前基因结果-正确地 提供并随后提供信息、临床监测和/或社会支持-让家庭为 这将有助于改善患有遗传病的儿童，甚至改善儿童和家庭的健康和社会结果。然而这件事 假设仍未得到审查，因为对于产前没有明确的定义或建议 准备工作。这项研究的重点是许多父母在基因突变后决定继续怀孕。 结果是，他们报告在寻找他们计划所需的信息和支持方面遇到了挑战 抚养一个患有遗传病的孩子。对于这些家庭来说，他们希望产前基因带来的好处 由于缺乏适合他们需要的资源，将提供的信息、准备工作受到阻碍。如果是产前 检测作为一种准备手段在伦理上和社会上都是正当的，它必须是一套产前护理的一部分。 了解并满足那些考虑在怀孕后继续怀孕的人的需求的做法 遗传结果。本项目的目标是检查利益相关者理解 产前准备后产生的遗传结果，决定了由此产生的求生和相关的社会行为 这些利益攸关方承担或支持并建立一个概念性的准备模型，以指导未来的研究， 实践和政策发展，通过以下四个目标：(1)描述不同的含义和 产前基因发现后的准备活动；(2)审查各种不同的方法，以 为接受产前基因发现的家庭提供产前和产后支持，以确定 (误)家庭、临床医生和倡导团体优先事项之间的匹配；(3)描述寻求健康和相关的 接受产前和出生后遗传结果的家庭的社会行为，在三个不同的 地理区域；以及(4)在遗传结果之后建立产前准备的概念模型， 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基因结果的临床医生和患者权益倡导者代表 小组；纵向访谈获得产前遗传发现和出生后诊断的家庭；以及 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仔细研究我们的发现。 通过建立产前准备的多维概念模型并评估其潜在的伦理， 临床、研究和实际意义，该项目将导致更协调的努力，以告知和 支持患有胎儿遗传疾病的家庭。

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.