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Carrier screening and pregnancy 携带者筛查与妊娠
IF 3.9 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-03-15 DOI: 10.1016/j.bpobgyn.2025.102601
Borut Peterlin , Ana Peterlin
Recessive genetic conditions impose a significant burden, often leading to severe childhood disorders, many of which remain untreatable. It is estimated that 1–2 % of couples are at risk of having an affected child in the general population, with the risk being significantly higher in consanguineous couples. Understanding the increased risk of having a child with a recessive disorder empowers prospective parents to make informed reproductive choices. With technological advancements, genetic screening has evolved beyond identifying only a few common conditions. Expanded carrier screening (ESC) now offers a single test that covers a comprehensive list of recessive disorders, addressing those that contribute most significantly to the burden of these conditions within specific populations.
ESC is recommended for all couples planning a pregnancy, with particular emphasis on consanguineous couples or those who are subfertile. To ensure responsible use of ESC, clinical service delivery should adopt a multidisciplinary approach, providing couples with the information they need to make voluntary, informed decisions. This includes access to high-quality genetic testing, genetic counseling, and psychosocial support.
National professional societies and governments play a crucial role in shaping guidelines, policies, oversight, and funding to guarantee equitable access to high-quality ESC services.
隐性遗传病造成重大负担,往往导致严重的儿童疾病,其中许多疾病仍然无法治愈。据估计,在一般人群中,1 - 2%的夫妇有生育受影响儿童的风险,而近亲结婚的夫妇的风险要高得多。了解孩子患有隐性疾病的风险增加,可以让未来的父母做出明智的生育选择。随着技术的进步,基因筛查已经超越了仅仅识别几种常见疾病的范畴。扩大携带者筛查(ESC)现在提供了一种单一的测试,涵盖了全面的隐性疾病清单,针对那些在特定人群中对这些疾病负担贡献最大的疾病。ESC建议所有计划怀孕的夫妇,特别强调近亲或生育能力低下的夫妇。为确保负责任地使用ESC,临床服务提供应采用多学科方法,向夫妇提供他们做出自愿、知情决定所需的信息。这包括获得高质量的基因检测、遗传咨询和社会心理支持。国家专业协会和政府在制定指导方针、政策、监督和资金方面发挥着至关重要的作用,以确保公平获得高质量的ESC服务。
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引用次数: 0
Fetal Doppler assessment in pregnancy 妊娠期胎儿多普勒评估
IF 3.9 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-03-14 DOI: 10.1016/j.bpobgyn.2025.102594
Jose H. Ochoa , Daniel Cafici
Fetal Doppler assessment plays a crucial role in monitoring the fetal well-being during pregnancy. This non-invasive technique assesses blood flow dynamics in key fetal vessels, namely the umbilical artery, middle cerebral artery, and ductus venosus.
The umbilical artery Doppler provides valuable insights into placental function aiding in the early detection of fetal growth restriction and fetal distress.
Assessment of the middle cerebral artery Doppler provides information on the adequacy of cerebral perfusion. It is highly sensitive to changes in fetal oxygenation and contributes to the management of advanced stages of early fetal growth restriction. It is also a valuable and sometimes standalone marker for late-term fetal hypoxic compromise and fetal anemia.
Doppler evaluation of ductus venosus offers additional data for identifying cardiac compromise and predicting adverse perinatal outcomes.
Incorporating these Doppler assessments into routine prenatal care enhances the ability to detect and manage fetal compromise, ultimately improving pregnancy outcomes.
胎儿多普勒评估在监测妊娠期胎儿健康方面起着至关重要的作用。这种非侵入性技术评估胎儿关键血管的血流动力学,即脐动脉、大脑中动脉和静脉导管。脐动脉多普勒为胎盘功能提供了宝贵的见解,有助于早期发现胎儿生长受限和胎儿窘迫。评估大脑中动脉多普勒提供了脑灌注是否充足的信息。它对胎儿氧合的变化高度敏感,有助于早期胎儿生长受限的晚期管理。它也是一个有价值的,有时独立的标志物晚期胎儿缺氧妥协和胎儿贫血。多普勒评价静脉导管提供额外的数据,以确定心脏损害和预测不良围产期结局。将这些多普勒评估纳入常规产前护理可提高检测和处理胎儿损害的能力,最终改善妊娠结局。
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引用次数: 0
Optimizing advice and approaches for elective fertility preservation 选择性生育保留的优化建议和方法
IF 3.9 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.bpobgyn.2025.102591
Nalini Kaul Mahajan
Elective fertility preservation enables women to extend their reproductive window, potentially reducing the need for ineffective fertility treatments later in life. Oocyte cryopreservation (OC), an established fertility preservation technique, is often seen as a means of reproductive autonomy, though its impact remains debated. To avoid detrimental effects of aging it is suggested that OC should be done by 37 years. Freezing ≥20 mature oocytes before 38 years gives a 60–70°% possibility of pregnancy. Success of ovarian tissue cryopreservation and transplantation (OTCT) in cancer survivors has encouraged its use in reproductive aging. OTCT provides a longer reproductive window, allows for spontaneous conception and restores ovarian endocrine function but is highly invasive. Ethical concerns raised for elective fertility preservation include medicalization of reproduction, idealization of the right time for pregnancy, psychological effects of advanced age parenthood and promotion of social inequity. With an increasing demand for elective oocyte freezing there is an urgent need to create awareness about the pros and cons of the techniques, the risks of pregnancy complications at an advanced maternal age and long term health of children born. Gamete preservation cannot guarantee a child. Profertility counselling should be a part of the discussion as there is no substitute for spontaneous conception at a younger age.
选择性生育保留使妇女能够延长她们的生育窗口期,潜在地减少了以后生活中对无效生育治疗的需求。卵母细胞冷冻保存(OC)是一种成熟的生育保存技术,通常被视为生殖自主的一种手段,尽管其影响仍存在争议。为了避免衰老的有害影响,建议在37岁之前完成OC。38岁前冷冻≥20个成熟卵母细胞,怀孕的可能性为60-70°%。卵巢组织冷冻保存和移植(OTCT)在癌症幸存者中的成功,鼓励了其在生殖衰老中的应用。OTCT提供了更长的生殖窗口,允许自然受孕和恢复卵巢内分泌功能,但具有高度侵入性。对选择性保留生育能力提出的伦理问题包括生殖医学化、理想的怀孕时间、高龄生育的心理影响和促进社会不平等。随着对选择性卵母细胞冷冻需求的增加,迫切需要提高人们对这种技术的利弊、高龄产妇妊娠并发症的风险和所生儿童的长期健康的认识。配子保存不能保证有孩子。生育咨询应该是讨论的一部分,因为没有什么可以替代年轻时的自然受孕。
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引用次数: 0
Cervical assessment 颈评估
IF 3.9 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.bpobgyn.2025.102590
Eduardo B. da Fonseca , Thais Bezerra Vasconcelos de Castro , Thereza Dias , Lara Araujo , Daniela Aires
Transvaginal scan (TVS) of cervical length (CxL) at mid-trimester anomaly scan in asymptomatic pregnancy is useful for predicting the risk of preterm birth. In symptomatic women, measurement of CxL at presentation can help to distinguish between true and false preterm labor (PTL), and who might not deliver within 48 h and seven days. In both groups, the individualization of risk would lead to improvement of antenatal care, including frequency of visits, patient education to identify earlier symptoms, avoid excessive hospitalization, and unnecessary steroids. It is also possible that vaginal progesterone and/or cerclage reduce the PTB risk on those asymptomatic women with short cervix. The aim is to review the evidence that supports the use of TVS of CxL in both asymptomatic and symptomatic pregnant women for the prediction and management of PTL.
经阴道扫描(TVS)宫颈长度(CxL)在中期无症状妊娠异常扫描是有用的预测早产的风险。在有症状的妇女中,在分娩时测量CxL可以帮助区分真假早产(PTL),以及谁可能在48小时和7天内无法分娩。在这两组中,风险的个体化将导致产前护理的改善,包括就诊频率、患者教育以识别早期症状、避免过度住院和不必要的类固醇。阴道黄体酮和/或环扎术也可能降低宫颈短的无症状妇女患PTB的风险。目的是回顾支持在无症状和有症状孕妇中使用CxL TVS预测和管理PTL的证据。
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引用次数: 0
Controversies related to the cardiac origin of preeclampsia – Does a mother's heart know? 子痫前期心脏起源的争议——母亲的心脏知道吗?
IF 3.9 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.bpobgyn.2025.102600
Eric J. Stöhr
A potential role of cardiac output has been proposed in the development of preeclampsia. Given that cardiac output may contribute to hypertensive states in the general population, a contribution from cardiac output to preeclampsia is plausible. However, the interplay between the heart and the periphery is complex, and some responses in cardiac output during pregnancy are surprising even when pregnancy progresses without complications. Therefore, this review focuses on recent evidence that has provided new insight into cardiac output in healthy humans including pregnancy, and offers some suggestions about future studies in preeclamptic patients.
心排血量在子痫前期发展中的潜在作用已被提出。鉴于心输出量可能导致一般人群的高血压状态,心输出量对子痫前期的贡献是可信的。然而,心脏和外周之间的相互作用是复杂的,即使在妊娠无并发症的情况下,妊娠期间心输出量的一些反应也是令人惊讶的。因此,本文综述了最近对包括妊娠在内的健康人心输出量的研究提供的新证据,并对未来在子痫前期患者中的研究提出了一些建议。
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引用次数: 0
Egg freezing for young women: A new dawn for reproductive autonomy? 年轻女性冷冻卵子:生殖自主的新曙光?
IF 3.9 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.bpobgyn.2025.102589
Michiel De Proost , Molly Johnston , Heidi Mertes
Egg freezing has become increasingly popular in the past fifteen years. Some experts have hailed it as revolutionary and present it as an answer to young women's problem of aligning their reproductive lifespan with other goals and events in life, likening it to the contraceptive pill. Others, however, are more sceptical, seeing it more as a case of exploitation of a vulnerable group of women and medicalization of societal problems. This review critically examines the portrayed benefits of egg freezing through two lines of enquiry: whether egg freezing is a viable reproductive option (the individual level), and whether it effectively increases gender equality (the collective level), hereby also focussing on the critique that it is the wrong kind of answer, namely a medical answer to a social problem. We conclude that although egg freezing can benefit reproductive autonomy, is not the liberating reproductive revolution it is sometimes made out to be.
在过去的15年里,卵子冷冻变得越来越流行。一些专家称赞它是革命性的,并将其比作避孕药,认为它解决了年轻女性的问题,即如何将她们的生育寿命与生活中的其他目标和事件协调起来。然而,另一些人则持怀疑态度,认为这更多是对弱势妇女群体的剥削和社会问题的医疗化。这篇评论通过两条调查线严格审查了卵子冷冻所描绘的好处:卵子冷冻是否是一种可行的生殖选择(个人层面),以及它是否有效地增加了性别平等(集体层面),因此也集中在批评这是一种错误的答案,即对社会问题的医学回答。我们的结论是,尽管卵子冷冻可以促进生殖自主,但它并不是一场解放性的生殖革命,它有时被认为是。
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引用次数: 0
Can we really protect the ovary from chemotherapy damage? 我们真的能保护卵巢免受化疗的伤害吗?
IF 3.9 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.bpobgyn.2025.102603
Thuy Truong An Nguyen , Margherita Condorelli , Isabelle Demeestere
Future alternatives to current fertility preservation methods such as pharmacological strategies to prevent chemotherapy-induced ovarian damage in female cancer patients are of growing interest. Chemotherapeutic agents, especially alkylating agents, cause DNA damage and apoptosis in ovarian follicles, significantly reducing ovarian reserve. To mitigate this gonadotoxicity, various emerging strategies are being explored, including kinase inhibitors, PI3K/Akt/mTOR pathway inhibitors, antioxidants, miRNAs and GnRH agonists. These treatments work by preventing follicular apoptosis or excessive activation of primordial follicles. Although promising results have been observed in vitro and in vivo in rodent models, further investigations to bypass their limitations are needed to confirm their efficacy and safety. These challenges include the non-interference with anti-tumoral effect of chemotherapy and the specificity of fertoprotective agents to ovaries.
未来替代目前的生育能力保存方法,如药物策略,以防止化疗引起的卵巢损伤的女性癌症患者的兴趣越来越大。化疗药物,尤其是烷基化药物,会导致卵巢卵泡DNA损伤和细胞凋亡,显著降低卵巢储备。为了减轻这种促性腺毒性,人们正在探索各种新兴策略,包括激酶抑制剂、PI3K/Akt/mTOR途径抑制剂、抗氧化剂、mirna和GnRH激动剂。这些治疗通过防止毛囊细胞凋亡或原始毛囊过度激活而起作用。尽管在体外和体内啮齿类动物模型中已经观察到有希望的结果,但需要进一步的研究来绕过其局限性,以确认其有效性和安全性。这些挑战包括化疗的抗肿瘤作用不受干扰,以及卵子保护剂对卵巢的特异性。
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引用次数: 0
Maternal hemodynamics assessment: Key to unlocking ignored functionalities of the female circulation 母体血液动力学评估:解开女性循环被忽视功能的关键
IF 3.9 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.bpobgyn.2025.102595
Wilfried Gyselaers , Pauline Dreesen
This chapter focuses on currently underappreciated aspects of the maternal circulation: blood pressure phenotypes, venous hemodynamics, intra-abdominal pressure, and body water homeostasis. Based on the hemodynamic balance between cardiac output and total peripheral resistance, flow-dominant and resistance-dominant phenotypes of normotension and hypertension exist, with different impacts on gestational outcome. Cardiac diastolic function and venous hemodynamics play a prominent role in gestational changes in cardiac output. An increase in intra-abdominal pressure during pregnancy interferes with body water volume homeostasis, similar to syndromes of multi-organ dysfunctions in non-pregnant individuals. Today, non-invasive maternal hemodynamics assessment allows for obtaining important information on these ignored circulatory functions in addition to conventional sphygmomanometric blood pressure measurement. This offers perspectives to improve current strategies for screening, diagnosis, and management of gestational hypertension disorders, a path, however, to be paved first by intensified multifaceted and multidisciplinary research.
本章着重于目前未被充分认识的母体循环方面:血压表型、静脉血流动力学、腹内压和体内水分平衡。基于心输出量和总外周阻力之间的血流动力学平衡,正常血压和高血压存在血流显性和阻力显性表型,对妊娠结局有不同的影响。心脏舒张功能和静脉血流动力学在妊娠期心输出量变化中起重要作用。妊娠期腹内压升高会干扰体内水量平衡,类似于未妊娠个体的多器官功能障碍综合征。如今,除了传统的血压计测量外,无创母体血液动力学评估可以获得这些被忽视的循环功能的重要信息。这为改善当前妊娠高血压疾病的筛查、诊断和管理策略提供了新的视角,然而,这条道路首先需要加强多方面和多学科的研究。
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引用次数: 0
Early medical abortion 早期药物流产
IF 3.9 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-02-21 DOI: 10.1016/j.bpobgyn.2025.102588
Sharon T. Cameron
Early medical abortion (EMA) with mifepristone and misoprostol is expanding access to safe abortion across the world. The drug regimen has changed and the steps involved in EMA have been significantly simplified since EMA was first introduced over 35 years ago. Evidence shows that women can safely self-administer both mifepristone and misoprostol themselves at home and self-manage the procedure including confirming the success of the procedure with a self-performed pregnancy test. Telemedicine has expanded access to EMA and evidence shows that it is associated with similar outcomes to traditional models of delivery and is acceptable to both women and clinicians. Further research is required to optimise the analgesic regimen for EMA. Greater efforts are required to expand availability of medical abortion at home at both very early gestations (less than 6 weeks) and up to the end of the first trimester. More evidence is needed to develop guidelines to support provision in remote settings.
米非司酮和米索前列醇的早期药物流产(EMA)正在扩大世界各地获得安全流产的机会。自从EMA在35年前首次推出以来,药物方案已经发生了变化,EMA所涉及的步骤已经大大简化。有证据表明,妇女可以在家中安全地自行给药米非司酮和米索前列醇,并自行管理程序,包括通过自行进行妊娠试验确认程序成功。远程医疗扩大了获取EMA的机会,有证据表明,它与传统分娩模式的结果相似,并且为妇女和临床医生所接受。需要进一步的研究来优化EMA的镇痛方案。需要作出更大努力,扩大在妊娠早期(少于6周)和妊娠头三个月结束前在家进行药物流产的机会。需要更多的证据来制定指导方针,以支持在偏远地区提供服务。
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引用次数: 0
Arterial stiffness in gestational diabetes: Latest insights 妊娠期糖尿病的动脉僵硬:最新见解
IF 3.9 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-02-03 DOI: 10.1016/j.bpobgyn.2025.102587
Abigail R. Anness Dr. , Asma Khalil , Hatem A. Mousa
Increased arterial stiffness is a known cardiovascular risk factor, associated with hypertension and acute coronary events. Gestational diabetes (GDM) is associated with the development of placental-mediated disorders and future cardiovascular morbidity, raising the possibility of an association with increased arterial stiffness (AS). Several studies have now investigated this association through the assessment of pulse wave velocity and augmentation index. In the current review, we present the latest evidence regarding the changes in arterial stiffness in pregnancies complicated by GDM, before the onset of clinical disease, during its course, and after its resolution. We also review the evidence that AS could influence the need for different treatments for GDM, and the impact that the treatments, and in particular, metformin, could have on arterial stiffness.
动脉硬化增加是已知的心血管危险因素,与高血压和急性冠状动脉事件有关。妊娠期糖尿病(GDM)与胎盘介导的疾病和未来心血管疾病的发展相关,增加了与动脉僵硬(AS)增加相关的可能性。现在有几项研究通过评估脉搏波速度和增强指数来调查这种联系。在当前的综述中,我们提出了有关妊娠合并GDM的动脉硬度变化的最新证据,在临床疾病发病前,病程中,以及在其消退后。我们还回顾了AS可能影响GDM不同治疗需求的证据,以及治疗的影响,特别是二甲双胍可能对动脉僵硬的影响。
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引用次数: 0
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