Introduction: Carrier screening for recessive disorders is undertaken by prospective parents to inform their reproductive decisions. With the growing availability of affordable and comprehensive expanded carrier screening (ECS), it is expected that carrier screening will become a standard practice in the future. However, the impact of positive carrier screening results on the reproductive decisions of at-risk couples (ARCs) remains underexplored.

Areas covered: We performed a systematic literature review to identify peer-reviewed publications describing the reproductive decisions of ARCs. Our search identified 19 relevant publications spanning the period 1994–2018. By synthesizing available evidence, we found that most ARCs chose to prevent the birth of an affected child and the decision to utilize preventive reproductive options was strongly influenced by the clinical nature of a disorder. However, there was also some heterogeneity in reproductive decisions within the same recessive disorders, suggesting that choices of ARCs can be influenced by factors other than the clinical nature of a disorder.

Expert opinion: ECS is becoming increasingly common, which will result in the routine identification of many ARCs. Reproductive decision-making by ARCs is a complex and emotionally challenging process, highlighting the critical role of genetic counseling in the care for these potentially vulnerable patients.

简介：隐性疾病的携带者筛查由准父母进行，以告知他们的生育决定。随着负担得起的和全面的扩展载体筛选（ECS）的可用性不断增长，预计载体筛选将在将来成为一种标准做法。然而，积极的携带者筛查结果对高危夫妇（ARCs）生殖决策的影响仍未得到充分研究。

涵盖领域：我们进行了系统的文献综述，以发现描述ARC生殖决策的同行评审出版物。我们的搜索确定了1994-2018年间的19种相关出版物。通过综合现有证据，我们发现大多数ARC选择阻止患病儿童的出生，而使用预防性生殖选择的决定受到疾病的临床性质的强烈影响。但是，在相同的隐性疾病中，生殖决策也存在异质性，这表明ARC的选择可能会受到疾病临床性质以外的因素的影响。

专家意见：ECS变得越来越普遍，这将导致许多ARC的例行识别。ARC的生殖决策过程是一个复杂且在情感上具有挑战性的过程，突显了遗传咨询在照顾这些潜在脆弱患者方面的关键作用。