Unraveling preimplantation genetic diagnosis for high-risk couples: implications for nurses at the front line of care.
Unraveling preimplantation genetic diagnosis for high-risk couples: implications for nurses at the front line of care.
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DOI：
10.1111/j.1751-486x.2011.01609.x
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发表时间：
2011-02-01
影响因子：
--
通讯作者：
Tur-Kaspa, Ilan
中科院分区：
文献类型：
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作者：
Hershberger, Patricia E;Schoenfeld, Catherine;Tur-Kaspa, Ilan
自胚胎植入前遗传学诊断（PGD）成功地用于患有已知遗传疾病的高遗传风险夫妇以来，已经过去了20年。是一种新的生殖选择，允许夫妇在怀孕前找到有关胚胎的重要遗传信息。对于许多夫妇来说，意识到他们体外胚胎的特定基因突变或标志物避免了通常与传统产前诊断相关的痛苦决定-是否终止正在进行的妊娠（Chamayou等人，1998; Palomba等人，1994年）。这里介绍的一个案例研究范例（见方框1）是一个深刻的例子，说明了越来越多的夫妇从一线卫生保健提供者那里寻求有关PGD（一种一级预防措施）的基本信息的背景和细节。这些服务提供者通常是护士、助产士和从事妇女保健工作的执业护士。就像科莱特和克里斯托弗的案例范例，许多夫妇都在寻找准确的健康信息，教育和预期的指导周围PGD。本文提供了PGD应用作为一级预防措施的最新信息，介绍了PGD程序的简要概述，并强调了护士，高级执业护士，助产士，医生和其他医疗保健提供者的当前进展和影响，以优化患者教育周围的PGD使用高遗传风险夫妇。值得注意的是，各国围绕PGD的政府监管和立法存在差异;因此，本文重点关注美国夫妇的护理。
Two decades have passed since preimplantation genetic diagnosis (PGD) was successfully used to benefit high-genetic-risk couples with a known genetic disorder. is novel reproductive option allows couples to find out important genetic information about their embryos before establishing a pregnancy. For many couples, the awareness of specific genetic mutations or markers of their in vitro embryos avoids the anguishing decision often associated with traditional prenatal diagnosis—whether or not to terminate an ongoing pregnancy (Chamayou et al., 1998; Palomba et al., 1994). e case study exemplar presented here (see Box 1) serves as a poignant example of the context and particulars that are representative of a growing number of couples who seek foundational information about PGD, a primary prevention measure, from their frontline health care providers. Often these providers are nurses, midwives and nurse practitioners in women’s health. Like Colette and Christopher of the case exemplar, many couples are in search of accurate health information, education and anticipatory guidance surrounding PGD. is article provides updated information on PGD applications as a primary prevention measure, presents a succinct overview of PGD procedures and highlights current advances and implications for nurses, advanced practice nurses, midwives, physicians and other health care providers to optimize patient education surrounding PGD use for high-genetic-risk couples. It’s important to note that there are differences in government regulation and legislation from country to country surrounding PGD; therefore, this article focuses on caring for couples in the United States.