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对潜在卵子捐赠者进行基因评估的重要性:家族史及基因携带者检测研究

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

作者信息

Basile Joyce E, Donnenfeld Alan E

机构信息

Genzyme Genetics, 833 Chestnut Street, Suite 1250, Philadelphia, PA 19107, USA.

出版信息

J Reprod Med. 2011 Sep-Oct;56(9-10):415-20.

Abstract

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.

摘要

目的

确定具有胎儿伤害风险增加的潜在卵子捐赠者的比例。

研究设计

使用卵子捐赠者来受孕的夫妇期望选择对其后代遗传风险较低的人。目前,这些捐赠者的大多数基因携带者筛查由生育中心自行决定。本研究回顾了卵子捐赠候选者的家族史和基因携带者检测结果。

结果

在950名潜在卵子捐赠者中,共有210名(22.1%)基于家族史至少有一个胎儿风险因素。在244名进行基因检测的准捐赠者中,有15名(6.1%)被发现是遗传性疾病的携带者,这可能会增加胎儿的风险。

结论

基因评估是评估准卵子捐赠者的关键步骤,因为近四分之一的捐赠者有家族病史,可能会增加胎儿风险。在不孕不育项目中接受潜在卵子捐赠者之前,需要披露卵子捐赠者的携带者状态,并在适用时对伴侣进行检测。

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