Never "totally prepared": Support groups on helping families prepare for a child with a genetic condition.
Never "totally prepared": Support groups on helping families prepare for a child with a genetic condition.
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永远不要“完全准备”：支持小组帮助家庭为患有遗传状况的孩子做准备。
DOI：
10.1007/s12687-023-00646-y
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发表时间：
2023-06
影响因子：
1.9
通讯作者：
Michie, Marsha
中科院分区：
文献类型：
--
作者：
Craig, Kaitlynn P.;Riggan, Kirsten A.;Rubeck, Sabina;Meredith, Stephanie H.;Allyse, Megan A.;Michie, Marsha
关键词：
由于产前遗传筛查和检测的范围和广度迅速扩大，对接受这种遗传信息的家庭提供产前支助的需求也日益增加。作为一项大型研究的一部分，我们调查了患有遗传疾病的儿童的产前准备，我们采访了支持父母诊断后的患者倡导团体（PAG）的代表。支持唐氏综合症家庭的团体通常是地方或区域性的，而其他团体通常是国家或国际性的。在做出继续怀孕的决定之前，各组的意愿或支持家庭的能力各不相同，参与者反映了他们如何通过个人咨询和转诊来解决这些需求。参与者描述了为父母提供有关家庭状况和一系列生活经验的信息，同时将家庭转介给医疗保健专业人员以解决技术问题和其他医疗需求。PAG还优先考虑将经历新诊断的父母与其他家庭联系起来，以获得同行支持和社区建设，无论是在个人还是在社交媒体上。与会者讨论了一些局限性，如缺乏种族一致的支持，以英语以外的语言提供资源的能力，以及缺乏资金来满足家庭诊断后的明确需求。总的来说，与会者强调，每个孩子的育儿经验是独特的，无论基因诊断，父母永远不可能“完全准备”的经验。
A rapid increase in the reach and breadth of prenatal genetic screening and testing has led to an expanding need for prenatal support of families receiving this genetic information. As part of a larger study investigating prenatal preparation for a child with a genetic condition, we interviewed representatives of patient advocacy groups (PAGs) who support parents post-diagnosis. Groups supporting families with Down syndrome were often local or regional, while other groups were often national or international in scope. Groups varied in their willingness or ability to support families prior to making a pregnancy continuation decision, and participants reflected on ways they addressed these needs with individual counseling and referrals, if needed. Participants described supporting parents with information about conditions and a range of lived experiences for families, while referring families to healthcare professionals for technical questions and additional medical needs. PAGs also prioritized connecting parents experiencing a new diagnosis with other families for peer support and community-building, both in person and on social media. Participants discussed limitations, such as a lack of racially-concordant support, ability to offer resources in languages other than English, and a lack of funding to meet the expressed needs of families post-diagnosis. Overall, participants emphasized that the parenting experience of each child is unique, irrespective of a genetic diagnosis, an experience for which parents can never be “totally prepared.”
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