Institute for Women's Health, University College London, London, UK.
Cryos International, Denmark ApS, Aarhus C, Denmark.
Hum Reprod. 2021 May 17;36(6):1702-1710. doi: 10.1093/humrep/deab067.
What are the sperm and egg donor rejection rates after expanded carrier screening (ECS)?
Using an ECS panel looking at 46/47 genes, 17.6% of donors were rejected.
The use of ECS is becoming commonplace in assisted reproductive technology, including testing of egg and sperm donors. Most national guidelines recommend rejection of donors if they are carriers of a genetic disease. If the use of ECS increases, there will be a decline in the number of donors available.
STUDY DESIGN, SIZE, DURATION: A review of the current preconception ECS panels available to donors was carried out through an online search. The genetic testing results of donors from Cryos International were analysed to determine how many were rejected on the basis of the ECS.
PARTICIPANTS/MATERIALS, SETTING, METHODS: Data on gamete donors and their carrier status was provided by Cryos International, who screen donors using their own bespoke ECS panel. The ECS panels identified through the review were compared to the Cryos International panel and data.
A total of 16 companies and 42 associated ECS panels were reviewed. There were a total of 2673 unique disorders covered by the panels examined, with a mean of 329 disorders screened. None of these disorders were common to all panels. Cryos International screen 46 disorders in males and 47 in females. From 883 candidate donors, 17.6% (155/883) were rejected based on their ECS result. Carriers of alpha-thalassaemia represented the largest proportion of those rejected (19.4%, 30/155), then spinal muscular atrophy (15.5%, 24/155) and cystic fibrosis (14.8%, 23/155).
LIMITATIONS, REASONS FOR CAUTION: Panel information was found on company websites and may not have been accurate.
This study highlights the need for consistent EU regulations and guidelines that allow genetic matching of gamete donors to their recipients, preventing the need to reject donors who are known carriers. A larger ECS panel would be most beneficial; however, this would not be viable without matching of donors and recipients.
STUDY FUNDING/COMPETING INTEREST(S): No specific funding was obtained. J.C.H. is the founder of Global Women Connected, a platform to discuss women's health issues and the Embryology and PGD Academy, who deliver education in clinical embryology. She has been paid to give a lecture by Cryos in 2019. A-B.S. is an employee of Cryos International.
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在扩展携带者筛查（ECS）后，精子和卵子供体的拒绝率是多少？
使用 46/47 基因的 ECS 面板，17.6%的供体被拒绝。
ECS 的使用在辅助生殖技术中变得越来越普遍，包括对卵子和精子供体的检测。大多数国家指南建议，如果供体是遗传疾病的携带者，就拒绝他们。如果 ECS 的使用增加，可用供体的数量将会减少。
研究设计、大小和持续时间：通过在线搜索对目前可用于供体的孕前 ECS 面板进行了综述。分析了 Cryos International 的配子供体及其携带状态的基因检测结果，以确定有多少供体因 ECS 而被拒绝。
参与者/材料、设置、方法：Cryos International 提供了配子供体及其携带状态的数据，他们使用自己的定制 ECS 面板对供体进行筛查。通过审查确定的 ECS 面板与 Cryos International 的面板和数据进行了比较。
共审查了 16 家公司和 42 个相关的 ECS 面板。检查的面板共涵盖 2673 种独特的疾病，平均筛查 329 种疾病。这些疾病没有一个是所有面板共有的。Cryos International 在男性中筛查 46 种疾病，在女性中筛查 47 种疾病。在 883 名候选供体中，根据 ECS 结果，有 17.6%（155/883）被拒绝。携带α-地中海贫血的供体所占比例最大（19.4%，30/155），其次是脊髓性肌萎缩症（15.5%，24/155）和囊性纤维化（14.8%，23/155）。
局限性、谨慎的原因：面板信息是在公司网站上找到的，可能不准确。
本研究强调需要有统一的欧盟法规和准则，允许配子供体与其受者进行基因匹配，从而避免需要拒绝已知携带者的供体。更大的 ECS 面板将是最有益的；然而，如果没有供体和受者的匹配，这将是不可行的。
研究资金/竞争利益：没有获得特定的资金。J.C.H. 是 Global Women Connected 的创始人，这是一个讨论女性健康问题和胚胎学与 PGD 学院的平台，该学院提供临床胚胎学教育。她曾在 2019 年被 Cryos 聘请演讲。A-B.S. 是 Cryos International 的员工。
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