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

脆性 X 前突变测试：不育携带者/伴侣的定性研究

• 批准号: 7361053
• 负责人: LISA M PASTORE
• 金额: $ 15.97万
• 依托单位: UNIVERSITY OF VIRGINIA
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-02-11 至 2010-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7361053
• 关键词: 5' Untranslated Regions; Address; Adopted; Adult; Affect; Alleles; American; American College of Obstetricians and Gynecologists; Applications Grants; Area; Blood Tests; CGG repeat; Child; Chromosome abnormality; Clinical; Communication; Complex; Conceptions; Condition; Counseling; Diagnosis; Discipline of obstetrics; Disease; Educational workshop; Emotional; Extramural Activities; FMR1 Gene; FXTAS; Failure; Family; Family history of; Family member; Female; Fertility; Fertility Agents; Fertilization in Vitro; Follicle Stimulating Hormone; Fragile X Gene; Fragile X Premutation; Fragile X Syndrome; Functional disorder; Future; General Population; Genes; Genetic; Genetic Carriers; Genetic Counseling; Genetic Predisposition to Disease; Genetic screening method; Gynecology; Hereditary Disease; Human; Individual; Infertility; Institution; Interview; Learning; Life Experience; Link; Literature; Medical; Medical Genetics; Menopause; Mental Retardation; Mitosis; Molecular; Motivation; Mutation; Names; National Institute of Child Health and Human Development; Numbers; Ovarian; Ovarian hormone; Ovum; Participant; Patient currently pregnant; Patients; Pattern; Phenotype; Physicians; Policies; Population; Pregnancy; Premature Ovarian Failure; Prevalence; Process; Psyche structure; Publishing; Reaction; Recommendation; Relative (related person); Report (document); Reporting; Reproduction; Reproductive Medicine; Research; Risk; Sample Size; Sampling; Societies; Structure; Test Result; Testing; Text; Thinking; Transcript; Trinucleotide Repeats; Upper arm; Week; Woman; X Chromosome; base; cohort; college; desire; early onset; egg; experience; insight; interest; male; reproductive; reproductive hormone

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.

描述（由申请人提供）：约10%的不孕/生育力低下女性被诊断为卵巢储备功能减退（DOR）。不到5%的DOR女性会自发怀孕，他们对生育药物没有正常反应，并且没有治疗方法可以逆转这种情况。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）的前突变改变。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），以了解被转诊进行FRAX测试的n=8名DOR女性（4名FRAX携带者，4名非携带者）及其n=8名伴侣的生活经验。具体目标是：（1）被要求接受这种意想不到的基因测试的经历是什么，它与患有脆性X综合征的孩子的家庭有什么不同？(2)当她得知自己是FRAX携带者时，与非携带者相比，她的经历是什么？(3)作为一个女人谁已提供FRAX测试的合作伙伴是什么样的经验，这是如何通过载体状态的变化？我们将对每位参与者进行3次面试（之前，之后1周内和之后3个月）。为了解读文本，我们将使用范式案例的叙事策略来理解整个采访记录，并使用主题分析来定位文本内部和之间有意义的模式和关注点。遗传咨询将提供给所有FRAX携带者，测试将是保密的。鉴于最近的建议，由美国医学遗传学学院的FRAX测试DOR妇女，有一个窗口的机会之前，实施新的建议，在此期间，不孕症患者的反应FRAX测试的关键信息可以确定。这些见解将是无价的OB/GYN的在他们的一线病人咨询。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，因为他们希望怀孕，不太可能有任何理由预期遗传病因。