商业冷冻银行筛选潜在捐赠者的遗传疾病和生殖风险的现行做法。

E A Conrad, B Fine, B R Hecht, E Pergament
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引用次数: 0

摘要

目的:确定商业精子库的筛选实践与已发表的指南有何不同,哪些因素影响冷冻精子库因遗传原因而排除潜在的精液捐献者,以及临床遗传学家/遗传咨询师在评估潜在精液捐献者中的作用。设计:商业精子库对潜在捐赠者的基因筛选采用由精子库董事填写的书面问卷进行评估。对反应进行分析,以确定排除标准,遵守已发表的指南,以及遗传专业人员的贡献。环境和参与者:精子库的选择是基于美国组织库协会的会员资格和捐献者人工授精精液的商业用途。主要衡量指标:商业精子库主管报告的精子库实践情况。结果:在37家符合条件的银行中,有16家做出了回应。所有筛选潜在捐赠者通过医疗/家族史和体格检查,94%有年龄上限;63%的人检查轻微的身体缺陷;56%常规核型;81%的男性筛查有Tay Sachs病、镰状细胞病和地中海贫血风险的族裔群体;19%筛查所有献血者;25%的人对所有捐赠者进行囊性纤维化筛查50%的人只对家族史呈阳性的人进行筛查。供体排斥反应基于三个标准:家族性疾病的遗传方式、疾病的严重程度和供体基因型携带者/确证性检测的可用性。16家银行中有10家没有基因专家。结论:商业精子库主要以家族史作为供体遗传筛查的主要排除标准。根据国家机构公布的准则,精子库的做法存在相当大的差异。总体而言,基因专家对精液捐献者的评估影响很小。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Current practices of commercial cryobanks in screening prospective donors for genetic disease and reproductive risk.

Objective: To determine how the screening practices of commercial semen banks vary from published guidelines, which factors influence cryobanks to exclude prospective semen donors for genetic reasons, and the current role of clinical geneticists/genetic counselors in evaluating prospective semen donors.

Design: The genetic screening of prospective donors by commercial semen banks was evaluated using written questionnaires completed by bank directors. Responses were analyzed to determine exclusion criteria, adherence to published guidelines, and contribution of genetic professionals.

Setting and participants: Semen banks were selected on the basis of membership in the American Association of Tissue Banks and commercial use of semen for artificial insemination by donor.

Main outcome measure: Semen bank practices as reported by commercial semen bank directors.

Results: Of 37 eligible banks, 16 responded. All screen prospective donors by medical/family history and physical examination, 94% have upper age limits; 63% examine for minor physical defects; 56% routinely karyotype; 81% screen men of ethnic groups at risk for Tay Sachs disease, sickle cell disease and thalassemia; 19% screen all donors; 25% screen all donors for cystic fibrosis and 50% only screen if family history positive. Donor rejection was based on three criteria: mode of inheritance of familial disorder, severity of disease, and availability of carrier/confirmatory testing of donor genotype. Ten of 16 banks have no genetic professional on staff.

Conclusion: Commercial semen banks primarily rely on family history as the major exclusion criterion in genetic screening of donors. Considerable differences exist among semen bank practices in accordance with guidelines published by national agencies. Genetic professionals have a minimal effect overall on evaluation of semen donors.

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