New York University Fertility Center, New York University School of Medicine, New York, NY, USA.
Hum Reprod. 2010 Sep;25(9):2298-304. doi: 10.1093/humrep/deq182. Epub 2010 Jul 20.
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.
为了将潜在的有害遗传条件最小化，供体按照标准指南进行了严格筛选，但这些指南可能不足以排除某些已知遗传条件的卵子供体。我们比较了对卵母细胞供体进行普遍筛查，包括泰萨克斯病、脆性 X 染色体、核型和明尼苏达多相人格问卷-2（MMPI-2），与不包括这些检测的美国生殖医学学会（ASRM）标准指南。
在这项 12 年的回顾性队列研究中，我们回顾了 1997 年至 2008 年在一家大学医院卵子捐赠计划中对所有匿名卵母细胞供体候选者进行增强型普遍筛查的结果。主要结果是根据增强型普遍筛查（泰萨克斯病、脆性 X 染色体、核型分析和 MMPI-2）与 ASRM 指南基本筛查相比，卵母细胞供体候选者被排除的频率。
在接受现场评估的 1303 名候选者中，47%通过了筛选过程，23%失去了随访，31%被排除。遗传和心理因素是候选者被排除的最常见原因。增强型遗传筛查排除了另外 25 名候选者（所有遗传排除者的 19%），增强型心理筛查排除了另外 15 名候选者（所有心理排除者的 12%）。总的来说，增强型筛查占总排除候选者的 40 名（10%）。
尽管我们的研究受到其回顾性性质和中心特异性结论的限制，但我们表明，增强型综合筛查可以排除卵子供体计划中的大量候选者，并应鼓励进行，以确保通过卵子捐赠获得的妊娠的短期和长期结果最佳。
