Dent Karin M, Carey John C
Congenital Hearing Loss Research Clinic, University of Utah Medical Center, Salt Lake City 84132, USA.
Am J Med Genet C Semin Med Genet. 2006 Aug 15;142C(3):173-9. doi: 10.1002/ajmg.c.30100.
Breaking the difficult news of an unexpected diagnosis to parents in the newborn setting is a common occurrence in genetic counseling. Many clinical geneticists and genetic counselors have had the challenge of delivering a postnatal diagnosis of Down syndrome to parents of newborns. Down syndrome is a common chromosome condition occurring in approximately 1 in 800 live births. Presenting the diagnosis to families must be accomplished in a supportive, positive, caring, and honest manner. However, there are few scientific data and little instruction in training programs on how best to convey this news in an appropriate manner. Several articles in the literature over the last three decades have proposed various guidelines for the so-called informing interview. Discussions of parents' preferences and experiences in receiving this news have also been documented. Few reports, however, have focused on breaking difficult news of the diagnosis of a genetic condition to parents in a newborn setting in the genetics literature. In this paper, we will review the medical literature on delivering difficult news, specifically focused on that regarding the diagnosis of Down syndrome in the newborn setting. We propose a theoretical framework from which the informing interview can be planned and future outcome data can be measured. In this way, researchers of this theme can investigate the process, including the healthcare professionals' delivery of difficult news and make recommendations for continued improvement of the process. Our model can be generalized to breaking difficult news for a variety of other congenital conditions.
在新生儿护理中，向家长透露意外诊断的坏消息是遗传咨询中常见的情况。许多临床遗传学家和遗传咨询师都曾面临向新生儿父母传达唐氏综合征产后诊断结果的挑战。唐氏综合征是一种常见的染色体疾病，大约每800例活产中就有1例发生。必须以支持、积极、关怀和诚实的方式向家庭告知诊断结果。然而，关于如何以适当方式传达这一消息，科学数据很少，培训项目中的指导也很少。在过去三十年里，文献中的几篇文章针对所谓的告知访谈提出了各种指导方针。关于父母在接收这一消息时的偏好和经历的讨论也有记录。然而，在遗传学文献中，很少有报告关注在新生儿护理中向父母透露遗传病诊断的坏消息。在本文中，我们将回顾关于传达坏消息的医学文献，特别关注在新生儿护理中关于唐氏综合征诊断的文献。我们提出一个理论框架，据此可以规划告知访谈，并衡量未来的结果数据。通过这种方式，该主题的研究人员可以调查这一过程，包括医疗保健专业人员传达坏消息的过程，并为该过程的持续改进提出建议。我们的模型可以推广到为各种其他先天性疾病传达坏消息的情况。
