Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child.
Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child.
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家庭对接受儿童性染色体非整倍体诊断的经历和态度。
DOI：
10.1002/ajmg.c.31781
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发表时间：
2020
期刊：
影响因子：
--
通讯作者：
Allyse,MeganA
中科院分区：
文献类型：
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作者：
Riggan,KirstenA;Close,Sharron;Allyse,MeganA
最常见的性染色体非整倍体（SCA） （47， XXY; 47， XYY; 47， XXX）通常导致比常染色体非整倍体更温和的表型。然而，这些疾病是高度可变的，更有症状的表型可能需要显著的临床参与，包括专科护理。虽然历史上大多数轻度表型的个体在其一生中未被诊断，但在临床护理中越来越多地使用基因检测增加了SCAs的产前和产后诊断。这些基因检测通常是由负责提供诊断的非基因提供者订购的。我们调查了孩子的父母（n= 308），以评估他们接受诊断的经历和他们的支持需求。大多数（73.3%）从非遗传医疗提供者那里得到诊断。在产前诊断后，父母报告说他们比那些接受产后诊断的父母感到抑郁、焦虑和不那么乐观。很少有父母报告说，他们收到的解释孩子病情的材料是最新的、准确的、公正的。父母在诊断时的负面经历经常被报道，这表明应该为非遗传提供者提供更多的教育机会，以便更多地了解这些情况，并以父母认为支持的方式传达诊断。
The most common sex chromosome aneuploidies (SCA) (47, XXY; 47, XYY; 47, XXX) frequently result in a milder phenotype than autosomal aneuploidies. Nevertheless, these conditions are highly variable and more symptomatic phenotypes may require significant clinical involvement, including specialty care. While historically most individuals with mild phenotypes remained undiagnosed during their lifetime, the increasing use of genetic testing in clinical care has increased the prenatal and postnatal diagnosis of SCAs. These genetic tests are frequently ordered by nongenetic providers who are also responsible for delivering the diagnosis. We surveyed parents of children (n= 308) to evaluate their experience of receiving a diagnosis and their support needs. The majority (73.3%) received the diagnosis from a nongenetic medical provider. Following a prenatal diagnosis parents reported experiencing depression, anxiety, and less optimism than those receiving a postnatal diagnosis. Few parents reported receiving materials explaining their child's condition that they found to be up‐to‐date, accurate, and unbiased. The frequently negative reported experiences of parents at time of diagnosis suggests more educational opportunities should be provided for nongenetic providers in order to become more informed about these conditions and communicate the diagnosis in a way parents experience as supportive.