Carrier screening began 50 years ago with screening for conditions that have a high prevalence in defined racial/ethnic groups (e.g., Tay–Sachs disease in the Ashkenazi Jewish population; sickle cell disease in Black individuals). Cystic fibrosis was the first medical condition for which panethnic screening was recommended, followed by spinal muscular atrophy. Next-generation sequencing allows low cost and high throughput identification of sequence variants across many genes simultaneously. Since the phrase “expanded carrier screening” is nonspecific, there is a need to define carrier screening processes in a way that will allow equitable opportunity for patients to learn their reproductive risks using next-generation sequencing technology. An improved understanding of this risk allows patients to make informed reproductive decisions. Reproductive decision making is the established metric for clinical utility of population-based carrier screening. Furthermore, standardization of the screening approach will facilitate testing consistency. This practice resource reviews the current status of carrier screening, provides answers to some of the emerging questions, and recommends a consistent and equitable approach for offering carrier screening to all individuals during pregnancy or preconception.

携带者筛查始于 50 年前，筛查在特定种族/族裔群体中发病率较高的疾病（例如德系犹太人中的泰萨克斯病；黑人中的镰状细胞病）。囊性纤维化是第一个建议进行全民族筛查的疾病，其次是脊髓性肌萎缩症。新一代测序可以同时以低成本和高通量鉴定多个基因的序列变异。由于“扩大携带者筛查”一词是非特异性的，因此需要以一种允许患者有公平机会使用下一代测序技术了解其生殖风险的方式来定义携带者筛查流程。更好地了解这种风险可以让患者做出明智的生殖决定。生殖决策是基于人群的携带者筛查的临床效用的既定指标。此外，筛查方法的标准化将促进测试的一致性。该实践资源回顾了携带者筛查的现状，为一些新出现的问题提供了答案，并建议采用一致且公平的方法为怀孕期间或孕前的所有个人提供携带者筛查。