Perceptions of reproductive risk and carrier testing among adolescent sisters of males with chronic granulomatous disease
Perceptions of reproductive risk and carrier testing among adolescent sisters of males with chronic granulomatous disease
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DOI：
10.1002/ajmg.c.10007
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发表时间：
2003-05-15
影响因子：
3.1
通讯作者：
Hadley, DW
中科院分区：
文献类型：
--
作者：
James, CA;Holtzman, NA;Hadley, DW
虽然最近的研究调查了父母，专业人士和成年兄弟姐妹对未成年人携带者检测的态度，但没有研究关注X连锁和常染色体隐性遗传疾病个体的未成年兄弟姐妹的经历。为了探讨青春期姐妹篇对生殖风险的看法、对携带者检测的态度以及信息和支持的资源，我们采访了14名患有慢性肉芽肿病（CGD）的男性的父母和9名姐妹篇（年龄12-15岁），CGD是一种以X连锁隐性和常染色体隐性方式遗传的原发性免疫缺陷疾病。我们的半结构化电话采访录音，转录，并进行模板分析（一种常见的定性方法）。女孩们都知道CGD是一种遗传性疾病，每个人都对自己的生殖风险进行了评估。所有女孩都认为她们的父母是她们获得信息和支持的最佳来源，但女孩很难主动提出讨论，因为她们害怕让父母不高兴。所有女孩和父母都认为最终的携带者检测对生殖决策和关系建立至关重要。然而，女孩倾向于在较晚的年龄进行携带者检测，并且比父母更担心与检测相关的心理风险。当面对“明天”被提供携带者检测的假设情况时，一半的父母和未检测的女儿不同意检测的可取性，父母更倾向于检测。包括青春期的姐妹篇在家庭为基础的遗传咨询，提供了一个机会，年龄适当的讨论遗传和时间，风险和携带者检测的好处将是有益的。2003年出版Wiley-Liss，Inc.（匕首）
Although recent research has investigated the attitudes of parents, professionals, and adult siblings toward carrier testing of minors, no studies have focused on the experiences of minor siblings of individuals with X-linked and autosomal recessive conditions. To explore adolescent sisters' perceptions of their reproductive risks, attitudes toward carrier testing, and resources for information and support, we interviewed 14 parents and 9 sisters (ages 12-15) of males with chronic granulomatous disease (CGD), a primary immunodeficiency disorder inherited in both an X-linked recessive and autosomal recessive fashion. Our semistructured telephone interviews were audiotaped, transcribed, and subjected to template analysis (a common qualitative methodology). Girls were all aware that CGD is an inherited condition and each had made an assessment of her reproductive risk. All girls considered their parents to be their best source of information and support, but girls had trouble initiating discussions for fear of upsetting their parents. All girls and parents considered eventual carrier testing vital for reproductive decision-making and relationship-building. However, girls favored carrier testing at a later age and expressed more concerns about psychological risks associated with testing than did their parents. When faced with the hypothetical situation of being offered carrier testing "tomorrow," half of the parents and untested daughters disagreed on the desirability of the test, with parents more likely to favor testing. Including adolescent sisters in family-based genetic counseling that provides an opportunity for age-appropriate discussion of inheritance and the timing, risks, and benefits of carrier testing would be beneficial to them. Published 2003 Wiley-Liss, Inc.(dagger)