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The importance of a genetic evaluation of prospective ovum donors: a study of family history and genetic carrier testing.

机译:对预期卵子供体进行遗传评估的重要性:家族史和遗传载体测试的研究。

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摘要

OBJECTIVE: To determine the percentage of potential ovum donors who have an increased risk for fetal harm. STUDY DESIGN: Couples using an ovum donor to conceive a pregnancy are expecting to select someone who poses a low genetic risk to their offspring. Currently, most genetic carrier screening of these donors is performed at the discretion of the fertility center. This investigation involves a review of family history and genetic carrier test results of oocyte donor candidates. RESULTS: A total of 210 (22.1%) of 950 potential oocyte donors had at least one fetal risk factor based on family history. Of 244 prospective donors who had genetic testing, 15 (6.1%) were found to be carriers of hereditary diseases that could pose an increased risk to a fetus. CONCLUSION: A genetic assessment is a critical step in the evaluation of prospective oocyte donors, because almost one quarter of donors had a family history of a disease that could pose an increased fetal risk. Disclosure of ovum donor carrier status and, when applicable, testing of partners is required before accepting a potential ovum donor in an infertility program.
机译:目的:确定胎儿危害风险增加的潜在卵子供体的百分比。研究设计:使用卵子供体怀孕的夫妇期望选择对后代遗传风险低的人。当前,这些供体的大多数遗传载体筛选是在生育中心的判断下进行的。这项调查涉及卵母细胞供体候选人的家族史和遗传载体测试结果的审查。结果:950名潜在卵母细胞供体中有210名(22.1%)具有至少一种基于家族史的胎儿危险因素。在244位经过基因测试的潜在捐赠者中,有15位(6.1%)被发现是遗传性疾病的携带者,可能对胎儿构成更大的风险。结论:遗传评估是评估预期卵母细胞供体的关键步骤,因为近四分之一的供体有家族病史,可能会增加胎儿风险。在接受不育计划中的潜在卵子供体之前,必须披露卵子供体的携带者状态,以及在适用时进行伴侣的检测。

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