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.

中文翻译：

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家庭经历和对接受儿童性染色体非整倍性诊断的态度。

最常见的性染色体非整倍性（SCA）（47，XXY; 47，XYY; 47，XXX）通常导致比常染色体非整倍性更轻的表型。然而，这些条件是高度可变的，更多的症状表型可能需要大量的临床参与，包括专科护理。历史上大多数具有轻度表型的个体在其一生中均未被诊断，但是在临床护理中基因检测的日益使用增加了SCA的产前和产后诊断。这些基因检测通常由非基因提供者下令，后者也负责提供诊断。我们调查了儿童的父母（ñ= 308）以评估他们接受诊断的经验以及他们的支持需求。大多数（73.3％）是从非遗传医疗提供者那里获得诊断的。产前诊断后，父母报告说与接受产后诊断的父母相比，他们有抑郁，焦虑和不那么乐观的感觉。很少有父母报告说收到了解释他们孩子状况的材料，证明他们发现了最新，准确和公正的信息。父母在诊断时经常被负面报道的经历表明，应该为非遗传提供者提供更多的教育机会，以便对这些情况有更多的了解，并以父母体验为支持的方式来传达诊断。