原发性睫状肌运动障碍成人患者的不孕症和妊娠结局。

IF 8.3 Q1 OBSTETRICS & GYNECOLOGY Human reproduction open Pub Date : 2024-06-18 eCollection Date: 2024-01-01 DOI:10.1093/hropen/hoae039
Leonie D Schreck, Eva S L Pedersen, Katie Dexter, Michele Manion, Nathalie Massin, Bernard Maitre, Myrofora Goutaki, Claudia E Kuehni
{"title":"原发性睫状肌运动障碍成人患者的不孕症和妊娠结局。","authors":"Leonie D Schreck, Eva S L Pedersen, Katie Dexter, Michele Manion, Nathalie Massin, Bernard Maitre, Myrofora Goutaki, Claudia E Kuehni","doi":"10.1093/hropen/hoae039","DOIUrl":null,"url":null,"abstract":"<p><strong>Study question: </strong>What is the prevalence of infertility and ectopic pregnancies among individuals with primary ciliary dyskinesia (PCD)?</p><p><strong>Summary answer: </strong>We found that 39 of 50 men (78%) and 72 of 118 women (61%) with PCD were infertile and that women with PCD had an increased risk of ectopic pregnancies (7.6 per 100 pregnancies, 95% CI 4.7-12.2).</p><p><strong>What is known already: </strong>PCD is a heterogeneous multiorgan disease caused by mutations in genes required for the function and structure of motile cilia. Previous studies identified a link between PCD and infertility, but original data on prevalence of infertility and risk of ectopic pregnancies, the use and efficacy of medically assisted reproduction (MAR), and the association of fertility with PCD genotype are extremely limited.</p><p><strong>Study design size duration: </strong>We performed a cross-sectional survey about fertility within the <i>Living with PCD</i> study (formerly COVID-PCD). <i>Living with PCD</i> is an international, online, participatory study that collects information directly from people with PCD. People with PCD of any age from anywhere in the world can participate in the study. At the time of the survey, 482 adults with PCD were registered within the <i>Living with PCD</i> study.</p><p><strong>Participants/materials setting methods: </strong>We sent a questionnaire on fertility on 12 July 2022, to all participants older than 18 years enrolled in the <i>Living with PCD</i> study. Responses were collected until 8 March 2023. The fertility questionnaire covered topics related to pregnancy attempts, use of MAR, and pregnancy outcomes. Data were collected via the Research Electronic Data Capture (REDCap) platform. We defined infertility as failure to achieve a clinical pregnancy after 12 months or use of MAR for at least one pregnancy.</p><p><strong>Main results and the role of chance: </strong>In total, 265 of 482 adult participants (55%) completed the fertility questionnaire. Among 168 adults who had tried to conceive, 39 of 50 men (78%) and 72 of 118 women (61%) were infertile. Of the infertile men, 28 had tried MAR, and 17 of them (61%) fathered a child with the help of MAR. Among infertile women, 59 had used MAR, and 41 of them (69%) became pregnant with the help of MAR. In our population, women with PCD showed a relatively high risk of ectopic pregnancies: 1 in 10 women who became pregnant had at least one ectopic pregnancy and 7.6% of pregnancies were ectopic (95% CI 4.7-12.2). We evaluated the association between fertility and affected PCD genes in 46 individuals (11 men, 35 women) with available genetic and fertility information, and found differences between genotypes, e.g. all five women with a mutation in <i>CCDC40</i> were infertile and all five with <i>DNAH11</i> were fertile.</p><p><strong>Limitations reasons for caution: </strong>The study has limitations, including potential selection bias as people experiencing problems with fertility might be more likely to fill in the questionnaire, which may have influenced our prevalence estimates. We were unable to validate clinical data obtained from participant self-reports owing to the anonymous study design, which is likely to lead to recall bias.</p><p><strong>Wider implications of the findings: </strong>The study underlines the need for addressing infertility in routine PCD care, with a focus on informing individuals with PCD about their increased risk. It emphasizes the utility and efficacy of MAR in PCD-related infertility. Additionally, women attempting conception should be made aware of the increased risk of ectopic pregnancies and seek systematic early consultation to confirm an intrauterine pregnancy. Fertility, efficacy of MAR, and risk for adverse pregnancy outcomes differ between people with PCD-depending on genotypes-and close monitoring and support might be needed from fertility specialists to increase chances of successful conception.</p><p><strong>Study funding/competing interests: </strong>Our research was funded by the Swiss National Science Foundation, Switzerland (SNSF 320030B_192804), the Swiss Lung Association, Switzerland (2021-08_Pedersen), and we also received support from the PCD Foundation, USA; the Verein Kartagener Syndrom und Primäre Ciliäre Dyskinesie, Germany; the PCD Support UK, UK; and PCD Australia, Australia. M. Goutaki received funding from the Swiss National Science Foundation, Switzerland (PZ00P3_185923). B. Maitre participates in the RaDiCo-DCP funded by INSERM France. The study authors participate in the BEAT-PCD Clinical Research Collaboration supported by the European Respiratory Society. All authors declare no conflict of interest.</p><p><strong>Trial registration number: </strong>ClinicalTrials.gov ID NCT04602481.</p>","PeriodicalId":73264,"journal":{"name":"Human reproduction open","volume":null,"pages":null},"PeriodicalIF":8.3000,"publicationDate":"2024-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11219480/pdf/","citationCount":"0","resultStr":"{\"title\":\"Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia.\",\"authors\":\"Leonie D Schreck, Eva S L Pedersen, Katie Dexter, Michele Manion, Nathalie Massin, Bernard Maitre, Myrofora Goutaki, Claudia E Kuehni\",\"doi\":\"10.1093/hropen/hoae039\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Study question: </strong>What is the prevalence of infertility and ectopic pregnancies among individuals with primary ciliary dyskinesia (PCD)?</p><p><strong>Summary answer: </strong>We found that 39 of 50 men (78%) and 72 of 118 women (61%) with PCD were infertile and that women with PCD had an increased risk of ectopic pregnancies (7.6 per 100 pregnancies, 95% CI 4.7-12.2).</p><p><strong>What is known already: </strong>PCD is a heterogeneous multiorgan disease caused by mutations in genes required for the function and structure of motile cilia. Previous studies identified a link between PCD and infertility, but original data on prevalence of infertility and risk of ectopic pregnancies, the use and efficacy of medically assisted reproduction (MAR), and the association of fertility with PCD genotype are extremely limited.</p><p><strong>Study design size duration: </strong>We performed a cross-sectional survey about fertility within the <i>Living with PCD</i> study (formerly COVID-PCD). <i>Living with PCD</i> is an international, online, participatory study that collects information directly from people with PCD. People with PCD of any age from anywhere in the world can participate in the study. At the time of the survey, 482 adults with PCD were registered within the <i>Living with PCD</i> study.</p><p><strong>Participants/materials setting methods: </strong>We sent a questionnaire on fertility on 12 July 2022, to all participants older than 18 years enrolled in the <i>Living with PCD</i> study. Responses were collected until 8 March 2023. The fertility questionnaire covered topics related to pregnancy attempts, use of MAR, and pregnancy outcomes. Data were collected via the Research Electronic Data Capture (REDCap) platform. We defined infertility as failure to achieve a clinical pregnancy after 12 months or use of MAR for at least one pregnancy.</p><p><strong>Main results and the role of chance: </strong>In total, 265 of 482 adult participants (55%) completed the fertility questionnaire. Among 168 adults who had tried to conceive, 39 of 50 men (78%) and 72 of 118 women (61%) were infertile. Of the infertile men, 28 had tried MAR, and 17 of them (61%) fathered a child with the help of MAR. Among infertile women, 59 had used MAR, and 41 of them (69%) became pregnant with the help of MAR. In our population, women with PCD showed a relatively high risk of ectopic pregnancies: 1 in 10 women who became pregnant had at least one ectopic pregnancy and 7.6% of pregnancies were ectopic (95% CI 4.7-12.2). We evaluated the association between fertility and affected PCD genes in 46 individuals (11 men, 35 women) with available genetic and fertility information, and found differences between genotypes, e.g. all five women with a mutation in <i>CCDC40</i> were infertile and all five with <i>DNAH11</i> were fertile.</p><p><strong>Limitations reasons for caution: </strong>The study has limitations, including potential selection bias as people experiencing problems with fertility might be more likely to fill in the questionnaire, which may have influenced our prevalence estimates. We were unable to validate clinical data obtained from participant self-reports owing to the anonymous study design, which is likely to lead to recall bias.</p><p><strong>Wider implications of the findings: </strong>The study underlines the need for addressing infertility in routine PCD care, with a focus on informing individuals with PCD about their increased risk. It emphasizes the utility and efficacy of MAR in PCD-related infertility. Additionally, women attempting conception should be made aware of the increased risk of ectopic pregnancies and seek systematic early consultation to confirm an intrauterine pregnancy. Fertility, efficacy of MAR, and risk for adverse pregnancy outcomes differ between people with PCD-depending on genotypes-and close monitoring and support might be needed from fertility specialists to increase chances of successful conception.</p><p><strong>Study funding/competing interests: </strong>Our research was funded by the Swiss National Science Foundation, Switzerland (SNSF 320030B_192804), the Swiss Lung Association, Switzerland (2021-08_Pedersen), and we also received support from the PCD Foundation, USA; the Verein Kartagener Syndrom und Primäre Ciliäre Dyskinesie, Germany; the PCD Support UK, UK; and PCD Australia, Australia. M. Goutaki received funding from the Swiss National Science Foundation, Switzerland (PZ00P3_185923). B. Maitre participates in the RaDiCo-DCP funded by INSERM France. The study authors participate in the BEAT-PCD Clinical Research Collaboration supported by the European Respiratory Society. All authors declare no conflict of interest.</p><p><strong>Trial registration number: </strong>ClinicalTrials.gov ID NCT04602481.</p>\",\"PeriodicalId\":73264,\"journal\":{\"name\":\"Human reproduction open\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":8.3000,\"publicationDate\":\"2024-06-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11219480/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Human reproduction open\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1093/hropen/hoae039\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q1\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human reproduction open","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1093/hropen/hoae039","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q1","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

研究问题:原发性睫状肌运动障碍(PCD)患者中不孕症和宫外孕的发生率是多少?我们发现,50 名男性 PCD 患者中有 39 人(78%)不育,118 名女性 PCD 患者中有 72 人(61%)不孕,女性 PCD 患者宫外孕的风险增加(每 100 例妊娠中有 7.6 例宫外孕,95% CI 为 4.7-12.2 例):PCD 是一种异质性的多器官疾病,由运动纤毛的功能和结构所需的基因突变引起。以往的研究发现 PCD 与不孕症之间存在联系,但有关不孕症患病率和异位妊娠风险、医学辅助生殖(MAR)的使用和疗效以及生育率与 PCD 基因型之间关系的原始数据极为有限:我们在 "与 PCD 共存 "研究(前身为 COVID-PCD)范围内开展了一项有关生育能力的横断面调查。与 PCD 共存研究是一项国际性的在线参与式研究,直接从 PCD 患者那里收集信息。世界上任何地方的任何年龄段的 PCD 患者都可以参与这项研究。调查期间,有 482 名成年 PCD 患者在 "与 PCD 共存 "研究中注册:我们于 2022 年 7 月 12 日向所有参与 "与 PCD 共存 "研究的 18 岁以上参与者发送了一份关于生育力的调查问卷。收集答复的截止日期为 2023 年 3 月 8 日。生育调查问卷涵盖了与尝试怀孕、使用 MAR 和妊娠结果相关的主题。数据通过研究电子数据采集(REDCap)平台收集。我们将不孕定义为 12 个月后未能临床妊娠或至少一次妊娠使用了 MAR:在 482 名成年参与者中,共有 265 人(55%)完成了生育调查问卷。在 168 位尝试过怀孕的成年人中,50 位男性中有 39 位(78%)不育,118 位女性中有 72 位(61%)不育。在不育男性中,28 人曾尝试过 MAR,其中 17 人(61%)在 MAR 的帮助下生下了一个孩子。在不育妇女中,有 59 人使用过 MAR,其中 41 人(69%)在 MAR 的帮助下怀孕。在我们的人群中,患有 PCD 的妇女宫外孕的风险相对较高:每 10 名怀孕妇女中就有 1 人至少有过一次宫外孕,7.6% 的妊娠为宫外孕(95% CI 为 4.7-12.2)。我们评估了 46 人(11 名男性,35 名女性)的生育力与受影响的 PCD 基因之间的关系,并发现了不同基因型之间的差异,例如,CCDC40 基因突变的所有五名女性都不能生育,而 DNAH11 基因突变的所有五名女性都能生育:该研究存在局限性,包括潜在的选择偏差,因为有生育问题的人可能更愿意填写调查问卷,这可能会影响我们对患病率的估计。由于采用匿名研究设计,我们无法验证从参与者自我报告中获得的临床数据,这可能会导致回忆偏差:这项研究强调了在常规 PCD 护理中解决不孕不育问题的必要性,重点是让 PCD 患者了解他们的不孕不育风险增加了。研究强调了MAR对PCD相关不孕症的实用性和有效性。此外,应让试图受孕的女性了解宫外孕风险的增加,并寻求系统的早期咨询以确认宫内妊娠。PCD患者的生育能力、MAR的疗效以及不良妊娠结局的风险因基因型而异,因此可能需要生育专家的密切监测和支持,以增加成功受孕的机会:我们的研究得到了瑞士国家科学基金会(SNSF 320030B_192804)和瑞士肺脏协会(2021-08_Pedersen)的资助,我们还得到了美国 PCD 基金会、德国 Verein Kartagener Syndrom und Primäre Ciliäre Dyskinesie、英国 PCD 支持组织和澳大利亚 PCD 澳大利亚的支持。M. Goutaki接受了瑞士国家科学基金会的资助(PZ00P3_185923)。B. Maitre参加了由法国INSERM资助的RaDiCo-DCP项目。研究作者参加了由欧洲呼吸学会支持的 BEAT-PCD 临床研究合作项目。所有作者声明无利益冲突:试验注册号:ClinicalTrials.gov ID NCT04602481。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia.

Study question: What is the prevalence of infertility and ectopic pregnancies among individuals with primary ciliary dyskinesia (PCD)?

Summary answer: We found that 39 of 50 men (78%) and 72 of 118 women (61%) with PCD were infertile and that women with PCD had an increased risk of ectopic pregnancies (7.6 per 100 pregnancies, 95% CI 4.7-12.2).

What is known already: PCD is a heterogeneous multiorgan disease caused by mutations in genes required for the function and structure of motile cilia. Previous studies identified a link between PCD and infertility, but original data on prevalence of infertility and risk of ectopic pregnancies, the use and efficacy of medically assisted reproduction (MAR), and the association of fertility with PCD genotype are extremely limited.

Study design size duration: We performed a cross-sectional survey about fertility within the Living with PCD study (formerly COVID-PCD). Living with PCD is an international, online, participatory study that collects information directly from people with PCD. People with PCD of any age from anywhere in the world can participate in the study. At the time of the survey, 482 adults with PCD were registered within the Living with PCD study.

Participants/materials setting methods: We sent a questionnaire on fertility on 12 July 2022, to all participants older than 18 years enrolled in the Living with PCD study. Responses were collected until 8 March 2023. The fertility questionnaire covered topics related to pregnancy attempts, use of MAR, and pregnancy outcomes. Data were collected via the Research Electronic Data Capture (REDCap) platform. We defined infertility as failure to achieve a clinical pregnancy after 12 months or use of MAR for at least one pregnancy.

Main results and the role of chance: In total, 265 of 482 adult participants (55%) completed the fertility questionnaire. Among 168 adults who had tried to conceive, 39 of 50 men (78%) and 72 of 118 women (61%) were infertile. Of the infertile men, 28 had tried MAR, and 17 of them (61%) fathered a child with the help of MAR. Among infertile women, 59 had used MAR, and 41 of them (69%) became pregnant with the help of MAR. In our population, women with PCD showed a relatively high risk of ectopic pregnancies: 1 in 10 women who became pregnant had at least one ectopic pregnancy and 7.6% of pregnancies were ectopic (95% CI 4.7-12.2). We evaluated the association between fertility and affected PCD genes in 46 individuals (11 men, 35 women) with available genetic and fertility information, and found differences between genotypes, e.g. all five women with a mutation in CCDC40 were infertile and all five with DNAH11 were fertile.

Limitations reasons for caution: The study has limitations, including potential selection bias as people experiencing problems with fertility might be more likely to fill in the questionnaire, which may have influenced our prevalence estimates. We were unable to validate clinical data obtained from participant self-reports owing to the anonymous study design, which is likely to lead to recall bias.

Wider implications of the findings: The study underlines the need for addressing infertility in routine PCD care, with a focus on informing individuals with PCD about their increased risk. It emphasizes the utility and efficacy of MAR in PCD-related infertility. Additionally, women attempting conception should be made aware of the increased risk of ectopic pregnancies and seek systematic early consultation to confirm an intrauterine pregnancy. Fertility, efficacy of MAR, and risk for adverse pregnancy outcomes differ between people with PCD-depending on genotypes-and close monitoring and support might be needed from fertility specialists to increase chances of successful conception.

Study funding/competing interests: Our research was funded by the Swiss National Science Foundation, Switzerland (SNSF 320030B_192804), the Swiss Lung Association, Switzerland (2021-08_Pedersen), and we also received support from the PCD Foundation, USA; the Verein Kartagener Syndrom und Primäre Ciliäre Dyskinesie, Germany; the PCD Support UK, UK; and PCD Australia, Australia. M. Goutaki received funding from the Swiss National Science Foundation, Switzerland (PZ00P3_185923). B. Maitre participates in the RaDiCo-DCP funded by INSERM France. The study authors participate in the BEAT-PCD Clinical Research Collaboration supported by the European Respiratory Society. All authors declare no conflict of interest.

Trial registration number: ClinicalTrials.gov ID NCT04602481.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
15.50
自引率
0.00%
发文量
0
审稿时长
12 weeks
期刊最新文献
Sperm and leukocyte telomere length are related to sperm quality parameters in healthy men from the Led-Fertyl study. Reply: Emerging evidence of endometrial compaction in predicting ART outcomes. Emerging evidence of endometrial compaction in predicting ART outcomes. Steady morphokinetic progression is an independent predictor of live birth: a descriptive reference for euploid embryos. Effects of ovarian stimulation on embryo euploidy: an analysis of 12 874 oocytes and 3106 blastocysts in cycles with preimplantation genetic testing for monogenic disorders.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1