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首页> 外文期刊>Pediatrics: Official Publication of the American Academy of Pediatrics >Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening
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Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening

机译:新生儿筛查中易碎X携带者检测的母亲后果

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OBJECTIVES: The possibility of newborn screening for fragile X syndrome is complicated by the potential for identifying premutation carriers. Although knowing the child's carrier status has potential benefits, the possibility of late-onset disorders in carrier children and their parents raises concerns about whether such information would be distressing to parents and potentially more harmful than helpful. This study sought to answer this question by offering voluntary fragile X screening to new parents and returning results for both the full mutation and premutation FMR1 gene expansions. We tested the assumption that such information could lead to adverse mental health outcomes or decision regret. We also wanted to know if child age and spousal support were associated with the outcomes of interest.
机译:目的:由于可能识别出突变前携带者,使新生儿筛查脆性X综合征的可能性变得复杂。尽管知道孩子的携带者身份可能有好处,但携带孩子及其父母发生迟发性疾病的可能性引起了人们的担忧,即这种信息是否会对父母造成困扰,是否有害无益。这项研究试图通过向新父母提供自愿的脆弱X筛查并返回FMR1基因全突变和突变前结果的返回结果来回答这个问题。我们测试了这种信息可能导致不良的心理健康结果或决策后悔的假设。我们还想知道孩子的年龄和配偶的支持是否与感兴趣的结果有关。

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