目的:原发性纤毛运动障碍(PCD)患者中不孕症和异位妊娠的患病率是多少?
结论:我们发现,50名男性中的39名(78%)和118名女性中的72名(61%)患有PCD,并且患有PCD的女性患异位妊娠的风险增加(每100例妊娠7.6例,95%CI4.7-12.2)。
背景:PCD是一种异质性多器官疾病,由活动纤毛的功能和结构所需的基因突变引起。以前的研究确定了PCD和不孕症之间的联系,但是关于不孕症患病率和异位妊娠风险的原始数据,医学辅助生殖(MAR)的用途和功效,生育力与PCD基因型的关联极为有限。
■我们在“与PCD一起生活”研究(以前称为COVID-PCD)中进行了一项关于生育力的横断面调查。与PCD一起生活是一个国际性的,在线,参与式研究,直接从PCD患者那里收集信息。来自世界任何地方的任何年龄的PCD患者都可以参与研究。在调查的时候,482名患有PCD的成年人在生活PCD研究中登记。
方法:我们于2022年7月12日向所有年龄在18岁以上的参与PCDLiving研究的参与者发送了一份生育率调查问卷。答复一直收集到2023年3月8日。生育问卷涵盖了与怀孕尝试有关的主题,使用MAR,和妊娠结局。通过研究电子数据捕获(REDCap)平台收集数据。我们将不孕症定义为12个月后未能实现临床妊娠或使用MAR至少一次妊娠。
结果:总计,482名成年参与者中有265人(55%)完成了生育问卷。在168名试图怀孕的成年人中,50名男性中有39名(78%)和118名女性中有72名(61%)不育。在不育的男人中,28尝试过MAR,其中17人(61%)在MAR的帮助下生了一个孩子。在不孕妇女中,59人使用了MAR,其中41人(69%)在MAR的帮助下怀孕。在我们的人口中,PCD女性的异位妊娠风险相对较高:1/10的怀孕女性至少有一次异位妊娠,7.6%的妊娠为异位妊娠(95%CI4.7~12.2).我们评估了46名个体(11名男性,35名妇女)有可用的遗传和生育信息,发现基因型之间的差异,例如,所有5名CCDC40突变的女性都是不育的,所有5名DNAH11患者都是可育的。
结论:该研究有局限性,包括潜在的选择偏见,因为经历生育问题的人可能更有可能填写问卷,这可能影响了我们的患病率估计。由于匿名研究设计,我们无法验证从参与者自我报告中获得的临床数据。这可能会导致召回偏差。
结论:该研究强调了在常规PCD护理中解决不孕症的必要性,重点告知PCD患者增加的风险。它强调了MAR在PCD相关不孕症中的效用和功效。此外,尝试受孕的妇女应意识到异位妊娠的风险增加,并寻求系统的早期咨询以确认宫内妊娠。生育率,MAR的功效,PCD患者的不良妊娠结局风险也不同-取决于基因型-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.
背景:我们的研究由瑞士国家科学基金会资助,瑞士(SNSF320030B_192804),瑞士肺脏协会,瑞士(2021-08_Pedersen),我们也得到了PCD基金会的支持,美国;其中KartagenerSyndrom和PrimäreCiliäreDyskinesie,德国;英国PCD支持,英国;和澳大利亚PCD,澳大利亚。M.Goutaki获得了瑞士国家科学基金会的资助,瑞士(PZ00P3_185923)。B.Maitre参加了由INSERM法国资助的RaDiCo-DCP。该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。所有作者都声明没有利益冲突。
背景:ClinicalTrials.govIDNCT04602481。
OBJECTIVE: What is the prevalence of infertility and ectopic pregnancies among individuals with primary ciliary dyskinesia (PCD)?
CONCLUSIONS: 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).
BACKGROUND: 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.
UNASSIGNED: 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.
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.
RESULTS: 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.
CONCLUSIONS: 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.
CONCLUSIONS: 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.
BACKGROUND: 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.
BACKGROUND: ClinicalTrials.gov ID NCT04602481.