Kalamo Mari, Mäenpää Johanna, Seppälä Toni, Mecklin Jukka-Pekka, Pylvänäinen Kirsi, Staff Synnöve
Department of Gynecology and Obstetrics, Tampere University Hospital, Tampere, Finland.
Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Hered Cancer Clin Pract. 2021 Sep 14;19(1):38. doi: 10.1186/s13053-021-00194-x.
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.
由于子宫内膜癌和卵巢癌风险增加，建议已知林奇综合征（LS）家族的女性进行种系检测。芬兰目前的做法是为携带致病变异的女性提供咨询，并在其分娩后提倡进行降低风险的手术（RRS）。本研究旨在阐明种系检测阳性对这些女性计划生育和生殖决策的影响，而这些影响相对尚不明确。
从芬兰LS登记处识别出79名种系错配修复（MMR）基因致病变异（path_MMR）携带者，她们在45岁之前进行了基因检测，且未接受子宫切除术或卵巢切除术。向这些女性发送了一份关于计划生育、亲密关系和心理社会幸福感的问卷。
35名女性（44.3%）做出了回应。path_MMR携带者的产次（2.1）略高于芬兰女性的总体产次（1.8）。基因检测前后的产次、人工流产次数或绝育次数之间未发现显著差异。只有少数受试者报告对计划生育有任何影响（20%）或对女性自我和身体形象有负面影响（14%）。
种系检测阳性似乎对计划生育、亲密关系或女性自我和身体形象没有重大负面影响。根据公开评论，专业人员的咨询、支持和共情态度似乎对此有显著影响。这些结果为育龄LS女性的咨询提供了有价值的补充。
