Department of Clinical Epidemiology, Biostatistics and Bioinformatics, University of Amsterdam, The Netherlands.
Reprod Biomed Online. 2011 Oct;23(4):525-33. doi: 10.1016/j.rbmo.2011.07.002. Epub 2011 Jul 13.
Couples with recurrent miscarriage (RM) and men with poor semen quality may undergo genetic testing as part of the diagnostic work-up. This study explored their knowledge and perception of genetic testing, evaluated psychological wellbeing and identified associated variables. A prospective questionnaire study was conducted in seven clinical genetics centres and referring gynaecological departments in couples with RM or poor semen quality. Questionnaires were completed before disclosure of genetic test results. Main outcome measures were knowledge, perceived risk, anxiety and depression. Of 439 participants, 256 were not aware genetic testing was part of the diagnostic work-up. One-third (36% RM, 33% poor semen quality) indicated they had not received information about the genetic test from their doctor. Perceived risk of receiving an abnormal genetic test result was higher than objective risk. Anxiety was highly correlated with perceived risk. Women with RM were more anxious than women in the poor semen quality group or men (P<0.01). These couples undergoing genetic testing have a suboptimal understanding of the nature of testing, overestimate the risks of receiving an abnormal result and some show high levels of anxiety. The results of this study can be used to improve patient counselling before genetic testing.
复发性流产（RM）的夫妇和精液质量差的男性可能会接受遗传检测，作为诊断工作的一部分。本研究探讨了他们对遗传检测的知识和看法，评估了心理健康状况，并确定了相关变量。在 RM 或精液质量差的夫妇的七个临床遗传学中心和相关妇科部门进行了前瞻性问卷调查研究。在遗传检测结果公布之前完成了问卷。主要结果测量是知识、感知风险、焦虑和抑郁。在 439 名参与者中，有 256 名不知道遗传检测是诊断工作的一部分。三分之一（36%RM，33%精液质量差）的人表示他们没有从医生那里得到关于遗传测试的信息。感知到的遗传检测异常结果的风险高于客观风险。焦虑与感知风险高度相关。RM 患者比精液质量差组或男性患者更焦虑（P<0.01）。这些接受遗传检测的夫妇对检测的性质理解不足，高估了接受异常结果的风险，一些人表现出高度的焦虑。本研究的结果可用于改善遗传检测前的患者咨询。
