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Reproductive Decision Making and Genetic Predisposition to Sudden Cardiac Death

机译:心脏猝死的生殖决策和遗传易感性

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Background: With current genetic technology, it is possible to detect mutations associated with long QT syndrome (LQTS), a hereditary cardiac arrhythmia syndromeAs a result, prospective parents diagnosed with LQTS will have to decide whether or not to prevent its transmission to future generations, either by not procreating or through the use of assisted reproductive technologies or prenatal testingThis article explores how a hereditary predisposition to sudden cardiac death can influence reproductive decision makingMethods: This study draws from interviews and focus groups with individuals who have personal or family histories of cardiac arrhythmia or sudden deathA keyword search was conducted on interview transcripts to identify quotes for analysisResults: Participants expressed complex, often ambivalent attitudes about the prospect of having a child with a predisposition to sudden cardiac deathTheir comments reveal conflicting understandings of genetic responsibility and reflect the variable effects of personal experience on reproductive decision makingThis article compares attitudes toward LQTS and other genetic conditions in analyzing the themes that emerged in interviews and focus groupsConclusions: The "disability critique" of prenatal testing should be applied carefully to the context of genetic predisposition to sudden cardiac death in order to understand reproductive decision makingFirsthand experience with the condition, among other factors, can weigh heavily in those decisions.
机译:背景:利用当前的遗传技术,可以检测与长QT综合征(LQTS)(一种遗传性心律不齐综合征)相关的突变。因此,被诊断患有LQTS的准父母必须决定是否阻止其传给后代,通过不生育或通过使用辅助生殖技术或进行产前检查,本文探讨了突发性心源性猝死的遗传易感性如何影响生殖决策。方法:本研究来自对具有心律失常的个人或家族病史的个体的访谈和焦点小组研究结果:参与者对生下易患心源性猝死的孩子的前景表达了复杂,通常矛盾的态度,他们的评论揭示了对遗传责任的理解并反映了个人经历对生殖决策的可变影响本文将在分析访谈和焦点小组中出现的主题时,比较人们对LQTS和其他遗传条件的态度。结论:产前检测的“残疾批评”应谨慎应用于突然发生的遗传易感性背景下为了了解生殖决策而心源性死亡。在其他决策中,与疾病有关的第一手经验可能会很重。

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