Temme R, Gruber A, Johnson M, Read L, Lu Y, McNamara J
Cystic Fibrosis Department, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN, USA,
J Genet Couns. 2015 Jun;24(3):473-81. doi: 10.1007/s10897-014-9767-7. Epub 2014 Sep 19.
Many children are identified as unaffected carriers for cystic fibrosis (CF) through newborn screening (NBS) programs. The aim of this study was to improve parental understanding of positive NBS results using an educational video in addition to genetic counseling. One hundred parents of infants identified as CF carriers through NBS were randomly assigned by household to either a genetic counseling only group or a genetic counseling and video group. All participants completed a knowledge-based questionnaire before, immediately after, and six weeks following genetic counseling. This included questions about resources accessed before and after the appointment. Seventy-two percent of participants accessed resources on their own prior to genetic counseling; these participants scored significantly higher on the pre-counseling questionnaire (p = 0.03). Post-counseling knowledge scores for both groups significantly improved after genetic counseling (p < 0.001). Post-counseling scores were significantly higher in the video group compared to the non-video group (p = 0.02). Knowledge was retained six weeks following genetic counseling. This study demonstrates the effectiveness of an educational video and reinforces the importance of genetic counseling following positive NBS results for CF.
通过新生儿筛查（NBS）项目，许多儿童被确定为囊性纤维化（CF）的未受影响携带者。本研究的目的是除了进行遗传咨询外，还通过教育视频来提高父母对NBS阳性结果的理解。通过NBS被确定为CF携带者的100名婴儿的父母按家庭随机分配到仅接受遗传咨询组或接受遗传咨询和视频组。所有参与者在遗传咨询前、咨询后立即以及咨询后六周完成了一份基于知识的问卷。这包括关于预约前后获取资源的问题。72%的参与者在遗传咨询前自行获取了资源；这些参与者在咨询前问卷上的得分显著更高（p = 0.03）。两组在遗传咨询后的知识得分在咨询后均显著提高（p < 0.001）。与非视频组相比，视频组咨询后的得分显著更高（p = 0.02）。遗传咨询六周后知识得以保留。本研究证明了教育视频的有效性，并强化了CF的NBS阳性结果后进行遗传咨询的重要性。
