Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
Invitae Corporation, San Francisco, California, USA.
Prenat Diagn. 2021 Aug;41(9):1057-1065. doi: 10.1002/pd.5995. Epub 2021 Jul 1.
Expanded carrier screening (ECS) assesses the risk of individuals and couples of having a child affected with a set of genetic conditions. Carriers have options available to optimize pregnancy outcomes based on personal values and preferences. The greatest range of options is available prior to pregnancy, therefore professional societies recommend this screening be performed preconception. This study aimed to assess awareness of, and interest in, ECS in women preconception. Additionally, it aimed to evaluate preferences for timing and location of education and availability of ECS.
A total of 260 nulliparous women from the general population were surveyed through Qualtrics, a national market research survey platform. Data were delineated using descriptive statistics.
Of this cohort, 43.5% reported being aware of ECS prior to the survey and 77.8% indicated interest. Those previously aware were first informed by family, friends, or independent online research. Interest was primarily driven by a desire for reassurance and to make informed decisions about future pregnancies. Interested respondents indicated a willingness to request testing from providers. Participants showed a preference for education and access from a healthcare provider in person.
These findings provide insight regarding when and where to best educate and reach women prior to pregnancy about ECS to maximize pregnancy outcomes.
扩展携带者筛查（ECS）评估个体和夫妇生育患有一系列遗传疾病的孩子的风险。携带者可根据个人价值观和偏好选择优化妊娠结局的方案。在妊娠前可获得最大范围的选择，因此专业学会建议在孕前进行这种筛查。本研究旨在评估女性在孕前对 ECS 的认知和兴趣。此外，还评估了对教育时间和地点的偏好以及 ECS 的可及性。
通过全国市场研究调查平台 Qualtrics 对 260 名来自普通人群的未育妇女进行了调查。使用描述性统计数据对数据进行了划分。
该队列中，43.5%的人在调查前报告了解 ECS，77.8%的人表示有兴趣。之前有了解的人首先是从家人、朋友或独立的在线研究中得知 ECS。兴趣主要是出于对未来妊娠的安心和知情决策的愿望。有兴趣的受访者表示愿意向提供者请求检测。参与者表示愿意从医疗保健提供者那里接受面对面的教育和服务。
这些发现为在孕前最佳的教育和接触时间以及地点提供了相关信息，以便最大程度地优化妊娠结局。
