ABSTRACT

The study investigates the experience of the parents of 48 children who have prenatally diagnosed with Klinefelter syndrome [KS] using a specifically developed questionnaire. Fifty percent of the participants were satisfied with the disclosure process, particularly those who received the diagnosis by an experienced geneticist. One of the aims of genetic and psychological counseling should be showing the advantages of a gradual and early disclosure with their child and underlining the possible advantages and disadvantages of spreading the diagnosis with other people to optimize support and minimize stigmatization.

中文翻译：

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“你儿子患有克莱恩费尔特综合症。” 父母对产前诊断的反应

摘要

该研究使用专门开发的问卷调查了 48 名产前诊断为 Klinefelter 综合征 [KS] 儿童的父母的经历。50% 的参与者对披露过程感到满意，尤其是那些接受了经验丰富的遗传学家诊断的参与者。遗传和心理咨询的目标之一应该是向他们的孩子展示逐步和早期披露的优势，并强调与其他人传播诊断以优化支持并最大程度地减少污名化的可能优势和劣势。