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商业冷冻精子库筛选潜在捐献者的遗传疾病和生殖风险的现行做法。

Current practices of commercial cryobanks in screening prospective donors for genetic disease and reproductive risk.

作者信息

Conrad E A, Fine B, Hecht B R, Pergament E

机构信息

Department of Obstetrics and Gynecology, Northwestern University Medical School, Chicago, Illinois, USA.

出版信息

Int J Fertil Menopausal Stud. 1996 May-Jun;41(3):298-303.

PMID:8799760
Abstract

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.

摘要

目的

确定商业精液库的筛查做法与已发表指南有何不同,哪些因素影响冷冻库因遗传原因排除潜在精液捐献者,以及临床遗传学家/遗传咨询师在评估潜在精液捐献者方面的当前作用。

设计

通过精液库主任填写的书面问卷对商业精液库对潜在捐献者的基因筛查进行评估。对回复进行分析以确定排除标准、对已发表指南的遵守情况以及遗传专业人员的贡献。

地点和参与者

根据美国组织库协会成员资格以及精液用于供体人工授精的商业用途选择精液库。

主要观察指标

商业精液库主任报告的精液库做法。

结果

在37家符合条件的精液库中,16家做出了回复。所有机构都通过医疗/家族史和体格检查对潜在捐献者进行筛查,94%有年龄上限;63%检查轻微身体缺陷;56%常规进行核型分析;81%对有患泰-萨克斯病、镰状细胞病和地中海贫血风险的种族群体男性进行筛查;19%对所有捐献者进行筛查;25%对所有捐献者进行囊性纤维化筛查,50%仅在家族史呈阳性时进行筛查。捐献者被拒绝基于三个标准:家族性疾病的遗传方式、疾病严重程度以及供体基因型的携带者/确认检测的可用性。16家精液库中有10家没有遗传专业人员。

结论

商业精液库在对捐献者进行基因筛查时主要依靠家族史作为主要排除标准。根据国家机构发布的指南,精液库的做法存在相当大的差异。遗传专业人员对精液捐献者评估的总体影响极小。

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