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向儿童告知其镰状细胞病或囊性纤维化新生儿筛查携带者结果:关于父母意图、观点及支持需求的定性研究

Informing children of their newborn screening carrier result for sickle cell or cystic fibrosis: qualitative study of parents' intentions, views and support needs.

作者信息

Ulph Fiona, Cullinan Tim, Qureshi Nadeem, Kai Joe

机构信息

School of Psychological Sciences, University of Manchester, Oxford Road, Manchester, M13 9PL, UK,

出版信息

J Genet Couns. 2014 Jun;23(3):409-20. doi: 10.1007/s10897-013-9675-2. Epub 2013 Dec 4.

DOI:10.1007/s10897-013-9675-2
PMID:24306142
Abstract

Newborn screening for cystic fibrosis and sickle cell disease enables the early identification and treatment of affected children, prolonging and enhancing their quality of life. Screening, however, also identifies carriers. There are minimal or no health concerns for carriers. There are, however, potential implications when carriers reach reproductive age, and thus research attention has been given to how best to convey information about these implications in a meaningful, balanced way which does not raise undue anxieties. Most research focuses on the communication from health professional to parent, yet ultimately this information is of greatest significance to the child. This study examines parents' intentions to inform their child of newborn screening carrier results. Semi-structured interviews with 67 family members explored their intentions to inform the child, and related views and support needs. Parents almost unanimously indicated they planned to inform the child themselves. Health professionals were expected, however, to provide guidance on this process either to parents through advice and provision of written materials, or directly to the child. Although parents initially stated that they would convey the result once their child had developed the ability to understand the information, many appeared to focus on discrete life events linked to informed reproductive decision making. The results highlight ways in which health care providers may assist parents, including providing written material suitable for intergenerational communication and ensuring that cascade screening is accessible for those seeking it. Priorities for further research are identified in light of the results.

摘要

对囊性纤维化和镰状细胞病进行新生儿筛查能够早期识别并治疗患病儿童,延长并提高他们的生活质量。然而,筛查也会识别出携带者。携带者几乎没有或不存在健康问题。然而,当携带者达到生育年龄时可能会有潜在影响,因此研究关注的重点是如何以有意义、平衡的方式传达这些影响的信息,同时又不会引起过度焦虑。大多数研究集中在医护人员与家长之间的沟通上,但最终这些信息对孩子最为重要。本研究调查了家长告知孩子新生儿筛查携带者结果的意愿。对67名家庭成员进行的半结构化访谈探讨了他们告知孩子的意愿以及相关观点和支持需求。家长几乎一致表示他们打算自己告知孩子。然而,预计医护人员会就这一过程向家长提供建议并提供书面材料,或者直接向孩子提供指导。尽管家长最初表示会在孩子具备理解信息的能力后再传达结果,但许多家长似乎关注的是与明智的生育决策相关的具体生活事件。研究结果突出了医疗保健提供者可以帮助家长的方式,包括提供适合代际沟通的书面材料,并确保那些寻求连锁筛查的人能够获得。根据研究结果确定了进一步研究的重点。

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Communication of carrier status information following universal newborn screening for sickle cell disorders and cystic fibrosis: qualitative study of experience and practice.
与新生儿筛查相关的社会心理问题:系统评价与综合分析
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Health services use by children identified as heterozygous hemoglobinopathy mutation carriers via newborn screening.通过新生儿筛查发现的杂合子血红蛋白病突变携带者的儿童健康服务利用情况。
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