reproductive medicine

生殖医学
  • 文章类型: Case Reports
    我们描述了在体外受精(IVF)后患有轻度子宫内膜异位症和Allen-Masters综合征的女性的情况,在妊娠7周2天时出现腹痛。经阴道超声检查显示,右卵巢附近有一个妊娠囊,胎儿无法存活。由于腹痛加剧,进行了腹腔镜检查,发现右子宫骶韧带(USL)和道格拉斯袋中的血液破裂了异位妊娠。沿USL的腹膜切口有助于引流和去除异位妊娠。病理研究描述了子宫内膜组织的存在,与受孕产物直接相邻,这表明腹膜后植入可能是由于子宫内膜异位病变的存在而促进的。该病例强调了非常规异位妊娠的独特临床轨迹,提供了对异位植入的病理生理机制的新见解,并强调了在IVF和随后的妊娠期间对患者进行全面评估在确保有效治疗中的关键作用。
    We describe the case of a woman with mild endometriosis and Allen-Masters syndrome after in vitro fertilisation (IVF), presenting at 7 weeks 2 days gestation with abdominal pain. A transvaginal ultrasound revealed a gestational sac with a non-viable fetus near the right ovary. Laparoscopy was performed due to escalating abdominal pain which revealed a ruptured ectopic pregnancy at the right uterosacral ligament (USL) and blood in the pouch of Douglas. A peritoneal incision along the USL facilitated drainage and removal of the ectopic pregnancy. A pathological investigation described the presence of endometrial tissue directly adjacent to products of conception, which suggested a retroperitoneal implantation that may have been facilitated by the presence of an endometriotic lesion. This case underscores the distinctive clinical trajectory of unconventional ectopic pregnancies, provides novel insights into the pathophysiological mechanism of ectopic implantation and underscores the crucial role of comprehensive patient assessment during IVF and subsequent pregnancy in ensuring effective management.
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  • 文章类型: Journal Article
    全球育龄人口生育率呈下降趋势,人类面临生育问题的巨大挑战。因此,生育力保存技术应运而生。生育力保护包括干预措施和程序,目的是在患者的生育力可能因其医疗状况或治疗而受损时,保护其生育机会。例如,癌症的化疗和/或放疗。患者生育能力的变化可能是暂时或永久的损害。生育力保护可以帮助被诊断患有癌症或其他非恶性疾病的人。越来越多的生育力保存方法被用于保存癌症患者的生育力,保护其生殖器官免受性腺毒性。保留生育力可能适用于患有早期癌症和预后良好的年轻患者,然后再接受可能对其生育力产生负面影响的治疗(化学疗法和/或放射疗法)。它也适用于患有慢性病的患者或遇到影响其性腺功能的环境暴露的患者。生育力保存方法包括卵母细胞冷冻保存,胚胎冷冻保存,女性卵巢组织冷冻(OTC),男性精子冷冻和睾丸组织冷冻。由于癌症治疗的进展,被诊断患有恶性肿瘤的儿童和青少年的存活率一直在稳步增加。卵母细胞和精子的冷冻保存被认为是青春期患者生育能力保存的一种成熟且成功的策略。OTC是青春期前女孩的唯一选择。另一方面,未成熟睾丸组织的冷冻保存仍然是青春期前男孩的唯一选择,但是这项技术仍处于实验阶段。一项综述显示,冷冻保存精液的利用率为2.6%至21.5%。在冷冻保存的女性生殖材料的情况下,卵母细胞的利用率从3.1%到8.7%不等,胚胎大约从9%到22.4%,卵巢组织从6.9%到30.3%。当患者需要生育治疗时,冷冻保存的玻璃化卵母细胞复苏,并进行体外受精-胚胎移植(IVF-ET)以帮助患者实现其生殖目标,活产率(LBR)为32%。另一方面,当冷冻保存的胚胎复苏和转移时,LBR为41%。OTC具有恢复自然肥力的优势,LBR为33%,在266例IVF患者中,LBR为19%。此外,OTC具有恢复内分泌功能的益处。据观察,移植后第一次月经的最短恢复时间为3.9个月,卵巢功能恢复率达100%。迄今为止,越来越多的癌症幸存者和患有其他疾病的患者正在受益于保留生育能力的措施。面对人类生育率的下降,生育力保存为人类生殖提供了新的途径。生育保护应符合伦理原则,以充分保护患者及其后代的权益。
    There is a global trend of declining fertility among people of childbearing age and mankind is confronted with great challenges of fertility problems. As a result, fertility preservation technology has emerged. Fertility preservation involves interventions and procedures aimed at preserving the patients\' chances of having children when their fertility may have been impaired by their medical conditions or the treatments thereof, for example, chemotherapy and/or radiotherapy for cancer. The changes in patients\' fertility can be temporary or permanent damage. Fertility preservation can help people diagnosed with cancer or other non-malignant diseases. More and more fertility preservation methods are being used to preserve the fertility of cancer patients and protect their reproductive organs from gonadotoxicity. Fertility preservation may be appropriate for young patients with early-stage cancers and good prognosis before they undergo treatments (chemotherapy and/or radiotherapy) that can negatively affect their fertility. It is also appropriate for patients with chronic conditions or those who have encountered environmental exposures that affect their gonadal function. Fertility preservation methods include oocyte cryopreservation, embryo cryopreservation, and ovarian tissue cryopreservation (OTC) for women and sperm freezing and testicular tissue freezing for men. The survival rates of children and adolescents diagnosed with malignant tumors have been steadily increasing as a result of advances in cancer treatments. Cryopreservation of oocytes and sperm is recognized as a well-established and successful strategy for fertility preservation in pubertal patients. OTC is the sole option for prepubertal girls. On the other hand, cryopreservation of immature testicular tissue remains the only alternative for prepubertal boys, but the technology is still in the experimental stage. A review showed that the utilization rate of cryopreserved semen ranged from 2.6% to 21.5%. In the case of cryopreserved female reproductive materials, the utilization rate ranged from 3.1% to 8.7% for oocytes, approximately from 9% to 22.4% for embryos, and from 6.9% to 30.3% for ovarian tissue. When patients have needs for fertility treatment, cryopreserved vitrified oocytes are resuscitated and in vitro fertilization-embryo transfer (IVF-ET) was performed to help patients accomplish their reproductive objectives, with the live birth rate (LBR) being 32%. On the other hand, when cryopreserved embryos are resuscitated and transferred, the LBR was 41%. OTC has the advantage of restoring natural fertility and presents a LBR of 33%, compared with the LBR of 19% among 266 IVF patients. In addition, OTC has the benefit of restoring the endocrine function. It has been observed that the shortest recovery time of the first menstruation after transplantation was 3.9 months, and the recovery rate of ovarian function reached 100%. To date, a growing number of cancer survivors and patients with other diseases are benefiting from fertility preservation measures. In the face of declining human fertility, fertility preservation provides a new approach to human reproduction. Fertility preservation should be applied in line with the ethical principles so as to fully protect the rights and interests of patients and their offsprings.
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  • 文章类型: Journal Article
    在各种条件下,在道德上允许对成人发病的单基因疾病进行植入前遗传检测,包括当病情完全渗透或赋予疾病倾向时。委员会强烈建议有经验的遗传咨询师在单基因疾病的植入前基因检测和辅助生殖技术疗法方面为考虑此类程序的患者提供咨询。
    Preimplantation genetic testing for monogenic diseases for adult-onset conditions is ethically permissible for various conditions, including when the condition is fully penetrant or confers disease predisposition. The Committee strongly recommends that a genetic counselor experienced with both preimplantation genetic testing for monogenic diseases and assisted reproductive technology therapies counsel patients considering such procedures.
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  • 文章类型: Editorial
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  • 文章类型: Journal Article
    分娩池是欧洲和北美产妇单位的共同特征,在家庭分娩实践中。尽管它们很流行和受欢迎,这些蓝色或白色,通常,笨重的塑料物体得到的经验或理论分析很少。这篇文章关注的是出现,这种分娩池的设计和意义,重点是1980年代和1990年代的英国。在媒体领域,政治和日常辩论,这些池是“现代产妇”悖论的特征:它们是“流畅地”永恒的和新的,天然和医疗,家常和不寻常的,安全和危险。除了探索“现代产妇”的矛盾之外,我们还进行了两项关键干预。首先,我们认为,近几十年来,现代产妇已经大大扩展,以容纳并包括关于舒适和体验的更多想法。第二,我们标志着现代出生中起作用的“现代性”的文化特定概念:出生池的受欢迎程度通常在白人中,中产阶级女性我们认为,分娩池在分娩人员护理的关键时刻产生了影响,我们绘制出不均衡和不公正的地形,通过这些地形,他们承担了文化和医学的突出地位。
    Birthing pools are a common feature of maternity units across Europe and North America, and in home birth practice. Despite their prevalence and popularity, these blue or white, often bulky plastic objects have received minimal empirical or theoretical analysis. This article attends to the emergence, design and meaning of such birthing pools, with a focus on the UK in the 1980s and 1990s. Across spheres of media, political and everyday debate, the pools characterise the paradoxes of \'modern maternity\': they are \'fluidly\' timeless and new, natural and medical, homely and unusual, safe and risky. Beyond exploring the contradictions of \'modern maternity\', we also make two key interventions. First, we contend that modern maternity has substantially expanded in recent decades to hold and include additional ideas about comfort and experience. Second, we flag the culturally specific notions of \'modernity\' at play in modern births: the popularity of the birthing pool was typically among white, middle-class women. We argue that birthing pools have had an impact at a critical moment in birthing people\'s care, and we map out the uneven and unjust terrains through which they have assumed cultural and medical prominence.
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  • 文章类型: Journal Article
    生殖遗传携带者筛查(RGCS)用于筛查夫妇是否有受单基因疾病影响的孩子的风险。所包括的病症主要是常染色体隐性遗传或与婴儿或儿童早期发病的X连锁。囊性纤维化,脊髓性肌萎缩症,美国妇产科医师学会(ACOG)建议血红蛋白病进行普遍筛查.关于进一步RGCS的建议仍然基于种族。近年来,美国医学遗传学和基因组学学院和国家遗传顾问协会建议采用通用扩展面板RGCS,并朝着更公平的方法迈进。ACOG指南指出,提供RGCS是可以接受的选择,然而,它没有提供明确的指导标准的护理。RGCS的阳性结果可以显着影响夫妇的生殖计划,包括通过植入前遗传测试进行体外受精,产前基因检测,特定的胎儿或新生儿治疗,或收养。与基于种族的携带者筛查相比,RGCS是一种优越的方法,并且摆脱了基于单一种族的医疗实践。我们敦促妇产科学会采用多个学会提出的RGCS指南,并在新的遗传时代帮助减少医学的系统性不平等。由ACOG和母胎医学协会等国家协会正式推荐和认可RGCS,将加强雇主对RGCS的保险范围和财政支持。在基因组医学时代,全面生殖护理的未来需要扩大获得范围,以便患者和家庭能够做出最适合他们需求的生殖选择。
    Reproductive genetic carrier screening (RGCS) serves to screen couples for their risk of having children affected by monogenic conditions. The included conditions are mostly autosomal recessive or X-linked with infantile or early-childhood onset. Cystic fibrosis, spinal muscular atrophy, and hemoglobinopathies are now recommended by the American College of Obstetricians and Gynecologists (ACOG) for universal screening. Recommendations for further RGCS remain ethnicity based. The American College of Medical Genetics and Genomics and the National Society of Genetic Counselors in recent years have recommended universal expanded-panel RGCS and moving towards a more equitable approach. ACOG guidelines state that offering RGCS is an acceptable option, however it has not provided clear guidance on standard of care. Positive results on RGCS can significantly impact reproductive plans for couples, including pursuing in vitro fertilization with preimplantation genetic testing, prenatal genetic testing, specific fetal or neonatal treatment, or adoption. RGCS is a superior approach compared to ethnicity-based carrier screening and moves away from single race-based medical practice. We urge the obstetrics and gynecology societies to adopt the guidelines for RGCS put forward by multiple societies and help reduce systemic inequalities in medicine in our new genetic age. Having national societies such as ACOG and the Society for Maternal-Fetal Medicine officially recommend and endorse RGCS would bolster insurance coverage and financial support by employers for RGCS. The future of comprehensive reproductive care in the age of genomic medicine entails expanding access so patients and families can make the reproductive options that best fit their needs.
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  • 文章类型: Editorial
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  • 文章类型: Case Reports
    这个案例报告描述了一个20多岁的男人,他表现出了双边的加密疗法,小阴茎和发育不全的第二性征。患者还表现出食子不振,Eunuchoid身材和男子乳房发育症。生化调查显示睾酮水平低,促黄体激素和促卵泡激素。因此,他被诊断出患有Kallmann综合征.影像学检查显示右肾缺失和输尿管远端芽的囊性扩张,精囊和无/发育不良射精管。低促性腺激素性性腺功能减退与Zinner综合征的关系,一种以肾脏发育不全为特征的罕见疾病,精囊囊肿和射精管阻塞,已注意到。
    This case report describes a man in his 20s presenting with bilateral crypto-orchidism, micropenis and underdeveloped secondary sexual characteristics. The patient also exhibited hyposmia, eunuchoid stature and gynecomastia. Biochemical investigations revealed low levels of testosterone, luteinising hormone and follicle-stimulating hormone. Hence, he was diagnosed with Kallmann syndrome. Imaging studies showed an absent right kidney and cystic dilatation of the distal ureteric bud, seminal vesicle and absent/hypoplastic ejaculatory duct. The association of hypogonadotropic hypogonadism with Zinner syndrome, a rare condition characterised by renal agenesis, seminal vesicle cyst and ejaculatory duct obstruction, was noted.
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  • 文章类型: Journal Article
    不孕症护理的接触是评估和更新免疫接种状况的机会。育龄个体往往不知道他们需要免疫,他们的免疫状况,以及可预防疾病对妊娠结局的潜在严重后果。这份美国生殖医学学会(ASRM)实践委员会文件的目的是总结当前有关生育年龄个体疫苗接种的建议。该文件取代了ASRM实践委员会题为“女性不孕症患者的疫苗接种指南,“最后发布于2018年(FertilSteril2018;110:838-41)。
    Encounters for infertility care are opportunities to assess and update immunization status. Individuals of reproductive age are often unaware of their need for immunization, their immunization status, and the potentially severe consequences of preventable disease on pregnancy outcome. The purpose of this American Society for Reproductive Medicine (ASRM) Practice Committee document is to summarize current recommendations regarding vaccinations for individuals of reproductive age. This document replaces the ASRM Practice Committee document titled \"Vaccination guidelines for female infertility patients,\" last published in 2018 (Fertil Steril 2018;110:838-41).
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  • 文章类型: Editorial
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