PURPOSE To evaluate the efficiency of expanded carrier screening (ECS) compared with ethnicity-based screening in identifying carriers. METHODS A total of 4232 infertility patients underwent ECS from a single genetic testing laboratory at our center between June 2013 and July 2015. Self-reported ethnicity was recorded. Carrier rates based on ECS were calculated. In addition, carrier status was determined for two other screening panels: ethnicity-based guidelines or the ECS panel recommended by the American College of Obstetricians and Gynecologists (ACOG) using ECS results. Carrier rate and carrier couple rates were compared in the overall study population and in each self-reported ethnicity. RESULTS The ECS panel used to screen the patient population identified 1243 carriers (29.4%). For the same population, ethnicity-based screening and the ACOG panel would have identified 359 (8.5%) and 659 carriers (15.6%), respectively, representing statistically significant differences. Differences in identifying carriers across self-reported ethnicities varied. In 15 couples (1.2%), both partners carried pathogenic variants for the same genes, 47% of whom would have been missed had screening been ethnicity-based. CONCLUSION We propose that all reproductive-aged women should be offered ECS. Carrier couple rates would likely increase further with expansion of the panel, playing a pivotal role in preventing genetic disease in fertility clinics.

中文翻译：

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比较单个生育中心的基于种族和扩大的携带者筛查方法揭示了携带者率和携带者夫妇率的显着差异。

目的 评估扩展携带者筛查 (ECS) 与基于种族的筛查在识别携带者方面的效率。方法 2013 年 6 月至 2015 年 7 月期间，我们中心的一个基因检测实验室共有 4232 名不孕症患者接受了 ECS。记录了自我报告的种族。计算了基于 ECS 的承运人费率。此外，还确定了其他两个筛查小组的携带者状态：基于种族的指南或美国妇产科学院 (ACOG) 使用 ECS 结果推荐的 ECS 小组。在整个研究人群和每个自我报告的种族中比较了携带者率和携带者夫妇率。结果 用于筛查患者群体的 ECS 小组确定了 1243 名携带者（29.4%）。对于同样的人群，基于种族的筛查和 ACOG 小组将分别确定 359 名 (8.5%) 和 659 名携带者 (15.6%)，代表统计学上的显着差异。跨自我报告的种族识别携带者的差异各不相同。在 15 对夫妇 (1.2%) 中，双方都携带相同基因的致病变异，如果筛查是基于种族的，其中 47% 的人会被遗漏。结论 我们建议应向所有育龄妇女提供 ECS。随着小组的扩大，携带者夫妇的比率可能会进一步增加，在生育诊所预防遗传病方面发挥关键作用。在 15 对夫妇 (1.2%) 中，双方都携带相同基因的致病变异，如果筛查是基于种族的，其中 47% 的人会被遗漏。结论 我们建议应向所有育龄妇女提供 ECS。随着小组的扩大，携带者夫妇的比率可能会进一步增加，在生育诊所预防遗传病方面发挥关键作用。在 15 对夫妇 (1.2%) 中，双方都携带相同基因的致病变异，如果筛查是基于种族的，其中 47% 的人会被遗漏。结论 我们建议应向所有育龄妇女提供 ECS。随着小组的扩大，携带者夫妇的比率可能会进一步增加，在生育诊所预防遗传病方面发挥关键作用。