Evaluating the necessity for universal screening of prospective oocyte donors using enhanced genetic and psychological testing

Evaluating the necessity for universal screening of prospective oocyte donors using enhanced genetic and psychological testing
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DOI:
10.1093/humrep/deq182
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发表时间:
2010-09-01
期刊:
影响因子:
6.1
通讯作者:
Kump, Lisa
Kump, Lisa
中科院分区:
医学1区
文献类型:
--
作者:
Reh, Andrea;Amarosa, Alana;Kump, Lisa

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为了最大限度地减少有害遗传性疾病的可能性,捐献者根据标准指南进行严格筛选,但这些指南可能不足以排除患有某些已知遗传性疾病的卵子捐献者。我们将泰萨克斯、脆性 X、核型和明尼苏达多相人格量表 2 (MMPI-2) 对卵母细胞捐赠者的普遍筛查与不包括此类检测的美国生殖医学会 (ASRM) 标准指南进行了比较。在这项为期 12 年的回顾性队列研究中,回顾了 1997 年至 2008 年在大学医院卵母细胞捐赠计划中对所有匿名卵母细胞捐赠者候选人进行强化普遍筛查的结果。主要结局是由于增强型通用筛查(Tay-Sachs、Fragile X、核型分析和 MMPI-2)与根据 ASRM 指南进行基本筛查而被排除的卵母细胞供体候选者的频率。在接受现场评估的 1303 名候选者中,47% 通过了筛选过程,23% 失访,31% 被排除。遗传和心理因素是候选人被排除的最常见原因。强化基因筛查又排除了 25 名候选人(占所有基因排除的 19%),强化心理筛查又排除了 15 名候选人(占所有心理排除的 12%)。强化筛查总共占被排除候选者总数的 40 名候选者 (10%)。尽管我们的研究因其回顾性和中心特定结论而受到限制,但我们表明,强化全面筛查可以将大量候选者排除在卵母细胞捐赠计划之外,并应予以鼓励,以确保通过卵母细胞捐赠实现妊娠的最佳短期和长期结果。
To minimize the potential for harmful inheritable conditions, donors are rigorously screened according to standard guidelines, yet such guidelines may not be sufficient to exclude egg donors with certain known inheritable conditions. We compared universal screening of oocyte donors with Tay-Sachs, Fragile X, karyotype and Minnesota Multiphasic Personality Inventory-2 (MMPI-2) versus standard American Society of Reproductive Medicine (ASRM) guidelines that do not include such testing.In this 12 year retrospective cohort study, results of enhanced universal screening of all anonymous oocyte donor candidates from 1997 to 2008 at a university hospital oocyte donation program were reviewed. Primary outcomes were the frequency of oocyte donor candidates excluded as a result of enhanced universal screening (Tay-Sachs, Fragile X, karyotypic analysis and MMPI-2) versus basic screening according to ASRM guidelines.Of 1303 candidates who underwent on-site evaluation, 47% passed the screening process, 23% were lost to follow-up and 31% were excluded. Genetic and psychological factors accounted for the most common reasons for candidate exclusion. Enhanced genetic screening excluded an additional 25 candidates (19% of all genetic exclusions) and enhanced psychological screening excluded an additional 15 candidates (12% of all psychological exclusions). Altogether enhanced screening accounted for 40 candidates (10%) of the total pool of excluded candidates.Although our study is limited by its retrospective nature and center-specific conclusions, we show that enhanced comprehensive screening can exclude a significant number of candidates from an oocyte donor program and should be encouraged to assure optimal short-term and long-term outcomes for pregnancies achieved through oocyte donation.