Due to increased risk of endometrial and ovarian cancer, women belonging to known Lynch Syndrome (LS) families are recommended to undergo germline testing. Current practice in Finland is to offer counselling to women with pathogenic variant and advocate risk-reducing surgery (RRS) after completion of childbirth. The present study aimed to clarify the impacts of positive germline testing on family planning and reproductive decisions of these women, which are relatively unknown. Seventy-nine carriers of germline MMR gene pathogenic variant (path_MMR) were identified from the Finnish LS Registry as having genetic testing performed before the age of 45 years and not having undergone hysterectomy or oophorectomy. These women were sent a questionnaire concerning family planning, intimate relationships and psychosocial wellbeing. Thirty-five women (44.3%) responded. Parity of path_MMR carriers (2.1) was slightly higher than parity among Finnish women in general (1.8). No significant differences were found between parity, number of induced abortions or sterilizations before and after genetic testing. Only minority of subjects reported any influence on family planning (20%) or negative impact on feminine self and body image (14%). The positive germline testing does not seem to have a major negative impact on family planning, intimate relationships or feminine self and body image. According to the open comments, counselling, supportive and empathic attitude of the professionals seem to have a significant impact on this. These results are a valuable addition to the counselling of LS women at reproductive age.

中文翻译：

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林奇综合征女性在关系、计划生育和社会心理健康方面的基因检测主观体验的描述性研究

由于子宫内膜癌和卵巢癌的风险增加，建议属于已知林奇综合征 (LS) 家族的女性进行生殖系检测。芬兰目前的做法是为患有致病性变异的妇女提供咨询，并提倡在分娩完成后进行风险降低手术 (RRS)。本研究旨在阐明阳性生殖细胞检测对这些女性的计划生育和生殖决定的影响，而这些影响相对未知。从芬兰 LS 登记处确定了 79 名生殖系 MMR 基因致病变异 (path_MMR) 携带者，他们在 45 岁之前进行了基因检测，并且没有进行过子宫切除术或卵巢切除术。这些妇女收到了一份关于计划生育、亲密关系和社会心理健康的问卷。三十五名妇女 (44. 3%) 回应。path_MMR 携带者的平价 (2.1) 略高于芬兰女性的平价 (1.8)。基因检测前后的胎次、人工流产或绝育次数之间没有发现显着差异。只有少数受试者报告了对计划生育的任何影响 (20%) 或对女性自我和身体形象的负面影响 (14%)。阳性生殖细胞检测似乎不会对计划生育、亲密关系或女性自我和身体形象产生重大负面影响。根据公开评论，专业人士的咨询、支持和同理心的态度似乎对此产生了重大影响。这些结果是对育龄期 LS 妇女咨询的宝贵补充。1) 略高于芬兰女性的平均水平 (1.8)。基因检测前后的胎次、人工流产或绝育次数之间没有发现显着差异。只有少数受试者报告了对计划生育的任何影响 (20%) 或对女性自我和身体形象的负面影响 (14%)。阳性生殖细胞检测似乎不会对计划生育、亲密关系或女性自我和身体形象产生重大负面影响。根据公开评论，专业人士的咨询、支持和同理心的态度似乎对此产生了重大影响。这些结果是对育龄期 LS 妇女咨询的宝贵补充。1) 略高于芬兰女性的平均水平 (1.8)。基因检测前后的胎次、人工流产或绝育次数之间没有发现显着差异。只有少数受试者报告了对计划生育的任何影响 (20%) 或对女性自我和身体形象的负面影响 (14%)。阳性生殖细胞检测似乎不会对计划生育、亲密关系或女性自我和身体形象产生重大负面影响。根据公开评论，专业人士的咨询、支持和同理心的态度似乎对此产生了重大影响。这些结果是对育龄期 LS 妇女咨询的宝贵补充。基因检测前后的人工流产或绝育次数。只有少数受试者报告了对计划生育的任何影响 (20%) 或对女性自我和身体形象的负面影响 (14%)。阳性生殖细胞检测似乎不会对计划生育、亲密关系或女性自我和身体形象产生重大负面影响。根据公开评论，专业人士的咨询、支持和同理心的态度似乎对此产生了重大影响。这些结果是对育龄期 LS 妇女咨询的宝贵补充。基因检测前后的人工流产或绝育次数。只有少数受试者报告了对计划生育的任何影响 (20%) 或对女性自我和身体形象的负面影响 (14%)。阳性生殖细胞检测似乎不会对计划生育、亲密关系或女性自我和身体形象产生重大负面影响。根据公开评论，专业人士的咨询、支持和同理心的态度似乎对此产生了重大影响。这些结果是对育龄期 LS 妇女咨询的宝贵补充。亲密关系或女性自我和身体形象。根据公开评论，专业人士的咨询、支持和同理心的态度似乎对此产生了重大影响。这些结果是对育龄期 LS 妇女咨询的宝贵补充。亲密关系或女性自我和身体形象。根据公开评论，专业人士的咨询、支持和同理心的态度似乎对此产生了重大影响。这些结果是对育龄期 LS 妇女咨询的宝贵补充。