"Suddenly Having two Positive People who are Carriers is a Whole New Thing"- Experiences of Couples Both Identified as Carriers of Cystic Fibrosis Through a Population-Based Carrier Screening Program in Australia
"Suddenly Having two Positive People who are Carriers is a Whole New Thing"- Experiences of Couples Both Identified as Carriers of Cystic Fibrosis Through a Population-Based Carrier Screening Program in Australia
复制标题
DOI：
10.1007/s10897-015-9833-9
复制
发表时间：
2015-12-01
影响因子：
1.9
通讯作者：
Lewis, Sharon
中科院分区：
文献类型：
--
作者：
Ioannou, Liane;Delatycki, Martin B.;Lewis, Sharon
2006年，澳大利亚维多利亚州实施了一项以人群为基础的CF携带者筛查计划。这项研究探讨了当夫妻双方都被确认为CF携带者时的经历。在2006年1月至2010年12月期间，确定了10对承运人夫妇，并邀请他们进行半结构化面试。进行了9次访谈，7次夫妇访谈和2次个人访谈。一对夫妇拒绝参加，因为最近终止了一次受影响的怀孕。访谈采用归纳内容分析法进行分析。所有的夫妇在得知他们的携带者夫妇的结果时都感到惊讶。筛查时怀孕的夫妇选择了产前诊断，大多数人认为这是“下一步”。这两对怀孕受影响的夫妇在收到产前诊断结果后报告了悲痛和悲痛的感觉，并终止了怀孕。所有携带者夫妇都被提供了免费的遗传咨询，只有一对夫妇拒绝了这一邀请。夫妇们对携带者夫妇的积极结果毫无准备。然而，所有的夫妇都因为他们的携带者身份而改变了他们的生育行为。这项研究的结果已被用于向CF携带者夫妇提供的计划和服务，特别是关于生殖决策的遗传咨询。
A population-based CF carrier screening program was implemented in Victoria, Australia in 2006. This study explored the experiences of couples when both partners were identified as CF carriers. Between January 2006 and December 2010, 10 carrier couples were identified and invited to undertake a semi-structured interview. Nine interviews were conducted, seven couple interviews and two individual interviews. One couple declined to participate due to the recent termination of an affected pregnancy. Interviews were analyzed using inductive content analysis. All couples experienced surprise on learning their carrier couple result. The couples who were pregnant at the time of screening chose to have prenatal diagnosis, with the majority considering it to be the "next step." The two couples who had an affected pregnancy reported feelings of devastation and grief upon receiving their prenatal diagnosis result and terminated the pregnancy. All carrier couples were offered free genetic counseling, with only one couple declining the offer. Couples were unprepared for a positive carrier couple result. However, all the couples changed their reproductive behavior as a result of their carrier status. The results of this study have been used to inform the program and service offered to CF carrier couples particularly with respect to genetic counseling for reproductive decision making.