Myring Jessica, Beckett William, Jassi Rupinder, Roberts Theresa, Sayers Richard, Scotcher Diana, McAllister Marion
Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
J Genet Couns. 2011 Aug;20(4):404-17. doi: 10.1007/s10897-011-9363-z. Epub 2011 Apr 5.
Cystic fibrosis (CF) is the most common recessive condition affecting the White British population. Facilitating reproductive decision making for couples at genetic risk for CF is an important aspect of genetic counseling practice in the UK. The purpose of this study was to explore the reproductive decision making process for 31 members of CF carrier couples (15 men and 16 women) with or without an affected child. The design involved a qualitative approach consisting of semi-structured interviews and data analysis informed by grounded theory methodology. Sex and personal experience of CF were identified as factors that may influence reproductive decision making. Findings suggest these hypotheses: (1) CF carrier couples who have an affected child/pregnancy, are more likely to embark on another pregnancy than couples who have a healthy child from an at-risk pregnancy, and (2) men and women play different roles in the reproductive decision making process. Data analysis resulted in development of a structured framework modeling the reproductive decision making process, which may be helpful in guiding genetic counseling with CF carrier couples and other at risk couples making reproductive decisions.
囊性纤维化(CF)是影响英国白人人群的最常见隐性疾病。为有CF遗传风险的夫妇提供生殖决策指导是英国遗传咨询工作的一个重要方面。本研究的目的是探讨31对CF携带者夫妇(15名男性和16名女性)在有或没有患病子女情况下的生殖决策过程。研究设计采用定性方法,包括半结构化访谈,并运用扎根理论方法进行数据分析。CF的性别和个人经历被确定为可能影响生殖决策的因素。研究结果提出了以下假设:(1)生育过患病子女/经历过患病妊娠的CF携带者夫妇比有风险妊娠但生育健康子女的夫妇更有可能再次怀孕;(2)男性和女性在生殖决策过程中发挥不同作用。数据分析形成了一个模拟生殖决策过程的结构化框架,这可能有助于指导对CF携带者夫妇和其他有风险夫妇进行生殖决策的遗传咨询。