应用和遗传咨询之间的差异在常规卵子供体筛选在大型生育网络。

IF 2.7 3区 医学 Q2 GENETICS & HEREDITY
Camelia Varriale, Laurel Anderson, Emily Daugherty, Jacqueline Pierre-Louis, Katie Caesar, Daragh Castaneda, Lauri Black
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引用次数: 0

摘要

目的:比较从书面申请中获得的个人和家庭病史信息与经认证遗传咨询师咨询后进行的正式遗传风险评估,并对任何不一致的信息进行分类和鉴定。方法:这是一项回顾性队列研究,年龄在21岁至31岁之间,经初步申请和面试确定为符合条件的女性受试者。准卵子捐赠者在其自我报告的书面申请中提供的信息与经认证的遗传咨询师咨询后进行的遗传风险评估进行了比较,该评估记录了至少三代人的家庭人口统计和健康史。差异被分类为与健康变化有关或没有健康变化(人口统计学),然后按变化数量分组。人口变化包括年龄、家庭成员人数和死亡时的年龄。健康变化是指与潜在卵子捐赠者和/或任何家庭成员的健康状况有关的任何新信息。结果:对随机选择的600例卵子供体申请与相关遗传风险评估进行了比较;这些申请人中有84%在遗传风险评估期间报告了新的健康信息。在总共600名患者中,19%不再符合美国生殖医学协会(ASRM)或内部项目指南的资格要求。结论:与单独的自我报告信息相比,由经过认证的遗传咨询师进行的遗传风险评估可以更全面地反映个人和家族病史,并准确评估卵子捐赠者的资格。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Discrepancies between application and genetic consultation during routine ovum donor screening in large fertility network.

Purpose: To compare the personal and family medical history information obtained from a written application to a formal genetic risk assessment performed in consultation with a certified genetic counselor, as well as categorize and qualify any discrepant information.

Methods: This was a retrospective cohort study of female subjects applying to become deidentified ovum donors, between ages 21 and 31 and who were determined to be eligible candidates with initial application and interview. Information provided by prospective ovum donors in their self-reported written application was compared to their genetic risk assessment performed in consultation with a certified genetic counselor, which documents family demographics and health history for a minimum of three generations. Discrepancies were categorized as relating to a health change or no health change (demographic) and then grouped by number of changes. Demographic changes included ages, number of family members, and age at time of death. Health changes were any new information relating to a health condition in prospective ovum donors and/or any family members.

Result(s): A total of 600 randomly selected ovum donor applications and the associated genetic risk assessments were compared; 84% of these applicants reported novel health information during the genetic risk assessment. Of the total 600, 19% no longer met American Society of Reproductive Medicine (ASRM) or internal program guidelines for eligibility.

Conclusions: Genetic risk assessment performed by a certified genetic counselor provides a more comprehensive representation of personal and family medical history and accurate assessment of the eligibility of an ovum donor compared to self-reported information alone.

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来源期刊
CiteScore
5.70
自引率
9.70%
发文量
286
审稿时长
1 months
期刊介绍: The Journal of Assisted Reproduction and Genetics publishes cellular, molecular, genetic, and epigenetic discoveries advancing our understanding of the biology and underlying mechanisms from gametogenesis to offspring health. Special emphasis is placed on the practice and evolution of assisted reproduction technologies (ARTs) with reference to the diagnosis and management of diseases affecting fertility. Our goal is to educate our readership in the translation of basic and clinical discoveries made from human or relevant animal models to the safe and efficacious practice of human ARTs. The scientific rigor and ethical standards embraced by the JARG editorial team ensures a broad international base of expertise guiding the marriage of contemporary clinical research paradigms with basic science discovery. JARG publishes original papers, minireviews, case reports, and opinion pieces often combined into special topic issues that will educate clinicians and scientists with interests in the mechanisms of human development that bear on the treatment of infertility and emerging innovations in human ARTs. The guiding principles of male and female reproductive health impacting pre- and post-conceptional viability and developmental potential are emphasized within the purview of human reproductive health in current and future generations of our species. The journal is published in cooperation with the American Society for Reproductive Medicine, an organization of more than 8,000 physicians, researchers, nurses, technicians and other professionals dedicated to advancing knowledge and expertise in reproductive biology.
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