BACKGROUND Through carrier screening, prospective parents can acquire information about whether they have an increased risk of conceiving a child affected with an autosomal recessive or X-linked condition. Within the last decade, advances in genomic technologies have facilitated a shift from condition-directed carrier screening to expanded carrier screening (ECS). Following the introduction of ECS, several studies have been performed to gauge the interest in this new technology among individuals and couples in the general population. OBJECTIVE AND RATIONALE The aim of this systematic review was to synthesize evidence from empirical studies that assess the interest in ECS among individuals and couples in the general population. As the availability and accessibility of ECS grow, more couples who are a priori not at risk based on their personal or family history will be presented with the choice to accept or decline such an offer. Their attitudes and beliefs, as well as the perceived usefulness of this screening modality, will likely determine whether ECS is to become a widespread reproductive genetic test. SEARCH METHODS Four databases (Pubmed, Web of Science, CINAHL, Cochrane Library) were systematically searched to identify English language studies performed between January 2009 and January 2019 using the following search terms: carrier screening, carrier testing, attitudes, intention, interest, views, opinions, perspectives and uptake. Studies were eligible for inclusion if they reported on intentions to undergo a (hypothetical) ECS test, uptake of an actual ECS offer or both. Two researchers performed a multistep selection process independently for validation purposes. OUTCOMES Twelve empirical studies performed between 2015 and 2019 were included for analysis. The studies originated from the USA (n = 6), the Netherlands (n = 3), Belgium (n = 1), Sweden (n = 1) and Australia (n = 1). The sample size of the studies varied from 80 to 1669. In the included studies, 32%-76% of respondents were interested in a (hypothetical) ECS test, while uptake rates for actual ECS offers ranged from 8% to 50%. The highest overall uptake was observed when ECS was offered to pregnant women (50%). By contrast, studies focusing on the preconception population reported lower overall uptake rates (8-34%) with the exception of one study where women were counseled preconception in preparation for IVF (68.7%). WIDER IMPLICATIONS Our findings suggest that there may be discrepancies between prospective parents' reported intentions to undergo ECS and their actual uptake, particularly during the preconception period. As ECS is a new and relatively unknown test for most future parents, the awareness and comprehension within the general population could be rather limited. Adequate pre- and post-test counseling services should be made available to couples offered ECS to ensure informed reproductive decision-making, together with guidelines for primary health care professionals. Due to restricted nature of the samples and methods of the underlying primary studies, some of the reported results might not be transferable to a broader population. More research is needed to see if the observed trends also apply to a broader and more diverse population.

中文翻译：

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对普通人群中的个人和夫妻进行扩展的携带者筛查的兴趣：文献的系统综述。

背景技术通过对携带者进行筛查，准父母可以获取有关他们是否具有增加患常染色体隐性遗传病或X连锁疾病的风险的信息。在过去的十年中，基因组技术的进步促进了从条件定向载体筛选到扩展载体筛选（ECS）的转变。在引入ECS之后，已经进行了一些研究来评估普通人群中的个人和夫妻对这项新技术的兴趣。目的和理由本系统综述的目的是综合来自经验研究的证据，这些研究评估了普通人群中个人和夫妻对ECS的兴趣。随着ECS的可用性和可访问性的增长，根据个人或家庭历史，对更多先验风险不高的夫妇将有选择地接受或拒绝这样的提议。他们的态度和信念，以及这种筛查方式的有用性，很可能会决定ECS是否要成为一种广泛的生殖基因测试。搜索方法使用以下搜索词系统搜索了四个数据库（公开数据库，Web of Science，CINAHL，Cochrane图书馆）以识别2009年1月至2019年1月之间进行的英语语言研究：承运人筛选，承运人测试，态度，意图，兴趣，观点，观点，观点和接受度。如果研究报告了打算进行（假设的）ECS测试，接受实际的ECS报价或两者都有，则有资格被纳入研究。两名研究人员出于验证目的独立执行了一个多步骤选择过程。结果纳入了2015年至2019年进行的十二项实证研究以进行分析。这些研究来自美国（n = 6），荷兰（n = 3），比利时（n = 1），瑞典（n = 1）和澳大利亚（n = 1）。研究的样本规模从80到1669不等。在纳入的研究中，有32％-76％的受访者对（假设的）ECS测试感兴趣，而实际ECS提供的摄取率在8％至50％之间。当孕妇使用ECS时，总体摄取量最高（50％）。相比之下，侧重于受孕前人群的研究报告的总体摄取率较低（8-34％），但一项研究除外，该研究为女性准备IVF进行了孕前咨询（68.7％）。对儿童的影响我们的研究结果表明，预期的父母报告的接受ECS的意愿与他们的实际摄取之间可能存在差异，特别是在受孕前时期。由于ECS对于大多数未来的父母来说是一个新的且相对未知的测试，因此普通人群中的意识和理解力可能会很有限。应该为提供ECS的夫妇提供足够的测试前和测试后咨询服务，以确保知情的生殖决策，以及针对初级保健专业人员的指南。由于样本的性质和基础基础研究方法的局限性，某些报告的结果可能无法转移到更广泛的人群中。需要更多的研究来观察观察到的趋势是否也适用于更广泛和更多样化的人群。