Camelia Varriale, Laurel Anderson, Emily Daugherty, Jacqueline Pierre-Louis, Katie Caesar, Daragh Castaneda, Lauri Black
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引用次数: 0
Abstract
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.
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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