Fragile X Premutation Tests: Qualitative Study of Infertile Carriers/Partners

描述（由申请人提供）：大约10%的不孕/不孕妇女被诊断为卵巢储备功能减退（DOR）。不到5%的DOR妇女会自然怀孕，她们对生育药物没有正常反应，而且没有治疗方法可以扭转这种情况。我们机构的初步研究表明，大约5%的DOR女性有脆性X基因（“FRAX”）的突变前改变。本研究将使用解释现象学（即从研究参与者的角度研究人类经验的结构和意义）来了解一组n=8名DOR女性（4名FRAX携带者，4名非携带者）的生活经验，这些女性被转介进行FRAX检测，她们的n=8名伴侣。具体的目的是：(1)被要求进行这种意想不到的基因测试的体验是什么，它与患有脆性X综合征的孩子的家庭有什么不同？(2)与非承运人相比，当她得知自己是FRAX承运人时，她的体验是什么？(3)作为接受FRAX检测的女性的伴侣的体验是什么？这种体验因携带者身份而有何不同？我们将对每位参与者进行3次访谈（测试前、测试后1周内、测试后3个月）。为了解释文本，我们将使用范式案例的叙事策略来整体理解访谈文本，并使用主题分析来定位文本内部和文本之间有意义的模式和关注点。将向所有FRAX携带者提供遗传咨询，检测将保密。鉴于美国医学遗传学学院最近建议在DOR妇女中进行FRAX检测，在实施新建议之前有一个机会窗口，在此期间可以确定不孕症患者对FRAX检测的反应的关键信息。这些见解对妇产科医生在一线患者咨询中是非常宝贵的。我们预计DOR女性对这种基因检测过程的反应将与脆性X综合征家庭非常不同。不孕妇女寻求生育援助是因为她们希望怀孕，并且不太可能有任何理由预测遗传病因。

DESCRIPTION (provided by applicant): About 10% of infertile/subfertile women are diagnosed with diminished ovarian reserve (DOR). Less than 5% of DOR women will become pregnant spontaneously, they do not respond normally to fertility drugs, and there are no treatments to reverse this condition. Preliminary research at our institution indicates that approximately 5% of DOR women have a premutation alteration of the fragile X gene ("FRAX"). This study will use interpretive phenomenology (i.e., the study of the structure and meaning of human experience from the perspective of the study participant) to learn about the lived experience of a cohort of n=8 DOR females (4 FRAX carriers, 4 non-carriers) who are referred for FRAX testing and their n=8 partners. The specific aims are: (1) What is the experience of being asked to undergo this unanticipated genetic test, and how is it different than that of families with a child with Fragile X Syndrome? (2) What is her experience when she learns that she is a FRAX carrier compared with the non-carriers? (3) What is the experience of being the partner of a woman who has been offered FRAX testing, and how does this vary by carrier status? We will conduct 3 interviews with each participant (before, within 1 week after, and 3 months after learning the test results). To interpret the text, we will use narrative strategies of paradigm cases to understand the interview transcript as a whole, and thematic analysis to locate meaningful patterns and concerns within and between texts. Genetic counseling will be provided to all FRAX carriers, and testing will be confidential. Given the recent recommendation by the American College of Medical Genetics for FRAX testing among DOR women, there is a window of opportunity prior to implementation of new recommendations during which critical information on the infertility patient's reactions to FRAX testing can be ascertained. Such insights will be invaluable to OB/GYN's in their frontline patient counseling. We anticipate that DOR women will react very differently to this genetic testing process than Fragile X Syndrome families. Infertile women seek fertility assistance because they desire pregnancy, and are unlikely to have any reason to anticipate a genetic etiology.