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Early twin-to-twin transfusion syndrome: From early gestational physiology to diagnosis and management 早期双胞胎对双胞胎输血综合征:从早期妊娠生理学到诊断和管理
IF 4.1 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-10-28 DOI: 10.1016/j.bpobgyn.2025.102675
Ali Javinani , Asma Khalil , Eyal Krispin
Twin-to-Twin Transfusion Syndrome (TTTS) occurs in about 15 % of monochorionic twin pregnancies, less frequently does it occur prior to 18 weeks of gestation. When occurring early, this severe complication presents unique diagnostic and management challenges. In this review we will focus on the pathophysiological mechanisms underlying early TTTS. We will be emphasizing the role of placental vascular anastomoses and hemodynamic imbalances in disease progression. Advances in imaging techniques allow early diagnosis of the disease, impacting on consultation and clinical decision-making. Current treatment strategies, specifically including fetoscopic laser photocoagulation, are reviewed with a focus on optimizing perinatal outcomes. By integrating insights from fetal physiology, diagnostic innovations, and therapeutic advancements, this review aims to refine clinical management approaches to improve survival and morbidity outcomes for monochorionic twin pregnancies complicated by early TTTS.
双胎输血综合征(TTTS)在单绒毛膜双胎妊娠中发生约15%,在妊娠18周之前发生的频率较低。当早期发生时,这种严重的并发症提出了独特的诊断和管理挑战。在这篇综述中,我们将重点讨论早期TTTS的病理生理机制。我们将强调胎盘血管吻合和血流动力学失衡在疾病进展中的作用。影像技术的进步使疾病的早期诊断,影响咨询和临床决策。目前的治疗策略,特别是包括胎儿镜激光光凝,重点是优化围产期结果进行了回顾。通过整合胎儿生理学、诊断创新和治疗进展的见解,本综述旨在改进临床管理方法,以提高合并早期TTTS的单绒毛膜双胎妊娠的生存率和发病率。
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引用次数: 0
From concept to practice: Screening for fetal and neonatal alloimmune thrombocytopenia (FNAIT) 从概念到实践:筛查胎儿和新生儿同种免疫性血小板减少症(FNAIT)。
IF 4.1 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-10-27 DOI: 10.1016/j.bpobgyn.2025.102683
R. Pothof , T.W. de Vos , E. Lopriore , D. Winkelhorst , C.E. van der Schoot , M. de Haas , E.J.T. Verweij
Affecting 1 per 1000 to 2000 pregnancies, Fetal and Neonatal Alloimmune Thrombocytopenia (FNAIT) is the leading cause for (severe) thrombocytopenia in term neonates. Due to an incompatibility between fetal and maternal platelets, maternal alloantibodies are formed against paternally derived human platelet antigens (HPAs). The alloantibodies can cross the placenta into the fetal circulation, where they can destruct the fetal platelets. As a result, severe thrombocytopenia may occur, potentially leading to intracranial hemorrhage (ICH) or severe organ bleeding during pregnancy or shortly after birth. In the absence of a universal prenatal screening program focussed on HPA-1a, FNAIT is often diagnosed too late, typically after the onset of severe fetal or neonatal bleeding complications. A screening program could be very effective in identifying the first pregnancy complicated with FNAIT, allowing timely intervention and prevent severe ICH and its associated long-term permanent sequelae. The aim of this review is to provide a comprehensive overview of the existing evidence regarding a possible future screening program for FNAIT. Additionally, challenges will be explored that need to be addressed for successful implementation of a screening program.
胎儿和新生儿同种免疫性血小板减少症(FNAIT)影响每1000至2000例妊娠中有1例,是足月新生儿(严重)血小板减少症的主要原因。由于胎儿和母体血小板之间的不相容,母体同种抗体形成对抗父源性人血小板抗原(HPAs)。同种异体抗体可以穿过胎盘进入胎儿循环,在那里它们可以破坏胎儿的血小板。因此,严重的血小板减少可能发生,潜在地导致颅内出血(ICH)或严重的器官出血在怀孕期间或出生后不久。由于缺乏针对HPA-1a的普遍产前筛查计划,FNAIT通常被诊断得太晚,通常是在出现严重的胎儿或新生儿出血并发症之后。筛查程序可以非常有效地识别首次妊娠合并FNAIT,允许及时干预并预防严重的脑出血及其相关的长期永久性后遗症。本综述的目的是对现有证据进行全面概述,以确定未来可能的FNAIT筛查方案。此外,还将探讨为成功实施筛查计划而需要解决的挑战。
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引用次数: 0
The future of clinical studies of in-utero therapy for genetic diseases 子宫内治疗遗传病临床研究的未来
IF 4.1 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-10-26 DOI: 10.1016/j.bpobgyn.2025.102678
Gillian Gough , G. Owen Schaefer , Karen M.X. Lim , Mahesh Choolani , Citra N.Z. Mattar
Approximately 7000 rare diseases affect 3.5–6.0 % of the global population. Technological advancements have improved disease identification and screening, enabling early interventions during fetal development; however, treatment options remain limited. Key considerations for advancing intrauterine therapy (IUT) into clinical practice include determining if prenatal intervention is superior to postnatal treatment, addressing technical aspects like delivery methods, target organ accessibility, cell preparation, and appropriate gestational age for therapy initiation. Critical resources include technical expertise, necessary equipment, and a multidisciplinary team for monitoring adverse events. Compliance with ethical, legal, and regulatory standards, including informed consent and parental counselling, is essential. Although IUT shows promise for treating genetic diseases, it is still experimental. This review examines the barriers, opportunities, and key considerations for initiating clinical trials in fetal genetic therapies.
大约7000种罕见疾病影响到全球3.5 - 6.0%的人口。技术进步改善了疾病的识别和筛查,使胎儿发育期间的早期干预成为可能;然而,治疗选择仍然有限。将宫内治疗(IUT)推进到临床实践的关键考虑因素包括确定产前干预是否优于产后治疗,解决技术方面的问题,如分娩方法、靶器官可及性、细胞制备和开始治疗的适当胎龄。关键资源包括技术专长、必要的设备和监测不良事件的多学科团队。遵守道德、法律和监管标准,包括知情同意和父母咨询,至关重要。尽管IUT显示出治疗遗传性疾病的前景,但它仍处于试验阶段。本文综述了胎儿基因治疗临床试验的障碍、机会和关键考虑因素。
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引用次数: 0
Vasa previa: A condition with diverse management approaches 先兆性血管病:一种需要多种治疗方法的疾病。
IF 4.1 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-10-26 DOI: 10.1016/j.bpobgyn.2025.102674
Faezeh Aghajani , Claudio V. Schenone , Ali Javinani , Hiba J. Mustafa , Eyal Krispin , Ramesha Papanna , Ramen H. Chmait
Vasa previa is a life-threatening fetal condition in which unprotected fetal blood vessels traverse the membranes over or near the cervical os, placing the fetus at high risk of rapid exsanguination if the membranes rupture. Advances in prenatal diagnosis have markedly improved outcomes, but current standard management remains associated with notable perinatal morbidity due to preterm birth and risks associated with cesarean delivery for the mother. In the management of vasa previa, growing evidence supports outpatient monitoring and delayed delivery for carefully selected low-risk cases, aiming to balance fetal safety with maternal well-being and efficient use of healthcare resources. A major focus is the emerging role of fetoscopic laser photocoagulation (FLP), a minimally invasive procedure that ablates exposed fetal vessels in utero. FLP may allow for outpatient management. In selected cases of types II and III vasa previa, it could facilitate term delivery and vaginal birth. While preliminary results are encouraging, FLP remains investigational and should be confined to IRB-approved protocols at specialized centers. We emphasize the need for individualized care informed by anatomical subtype, clinical risk, and patient values. As clinical management moves away from uniform management toward more personalized strategies, future research must validate new approaches through prospective trials and long-term follow-up to optimize maternal and fetal outcomes.
先兆妊娠是一种危及生命的胎儿疾病,在这种情况下,未受保护的胎儿血管穿过子宫颈os上方或附近的膜,如果膜破裂,使胎儿处于快速失血的高风险中。产前诊断的进步已经显著改善了预后,但目前的标准管理仍然与早产和母亲剖宫产相关的显着围产期发病率相关。在前置血管的管理中,越来越多的证据支持门诊监测和精心选择的低风险病例延迟分娩,旨在平衡胎儿安全与孕产妇健康和有效利用医疗资源。一个主要的焦点是胎儿镜激光光凝(FLP)的新兴作用,这是一种微创手术,可以在子宫内消融暴露的胎儿血管。FLP可能允许门诊管理。在选定的II型和III型前置血管病例中,它可以促进足月分娩和阴道分娩。虽然初步结果令人鼓舞,但FLP仍处于研究性阶段,应局限于irb批准的专业中心的方案。我们强调需要根据解剖亚型、临床风险和患者价值进行个性化护理。随着临床管理从统一管理转向更加个性化的策略,未来的研究必须通过前瞻性试验和长期随访来验证新的方法,以优化母婴结局。
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引用次数: 0
Innovations in post-pregnancy contraception 怀孕后避孕的创新。
IF 4.1 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-10-25 DOI: 10.1016/j.bpobgyn.2025.102672
Michelle Cooper , Sharon Cameron
Evidence indicates that regardless of how a pregnancy ends (birth, abortion, miscarriage, ectopic), that ovulation resumes quickly in most cases. Those who are sexually active soon afterwards therefore require an effective method of contraception to avoid an unintended pregnancy. Yet, lack of knowledge on contraceptive options or when they can or should be initiated can be barriers to starting a method. For those who have given birth the requirements of looking after a newborn and recovering from delivery adds to existing barriers of accessing a chosen method after pregnancy. It is vital therefore that access to contraception can be facilitated for women to start immediately post pregnancy. this chapter will outline some initiatives to empower individuals to choose contraception for following a pregnancy and also innovations to help them access that method.
有证据表明,无论怀孕如何结束(分娩、流产、流产、异位),在大多数情况下,排卵都会很快恢复。因此,那些性生活活跃的人需要有效的避孕方法,以避免意外怀孕。然而,缺乏关于避孕选择或何时可以或应该开始使用避孕方法的知识可能成为开始使用避孕方法的障碍。对于已经分娩的妇女来说,照顾新生儿和产后康复的要求增加了在怀孕后获得所选方法的现有障碍。因此,为妇女在怀孕后立即开始避孕提供便利是至关重要的。本章将概述一些倡议,使个人能够在怀孕后选择避孕措施,也创新,以帮助他们获得这种方法。
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引用次数: 0
First trimester scan in twins 双胞胎的妊娠早期扫描
IF 4.1 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-10-25 DOI: 10.1016/j.bpobgyn.2025.102684
Sofia Albuquerque Brás, Leonor Ferreira
The first trimester ultrasound, performed between 11 + 0 and 13 + 6 weeks of gestation, plays an important role that goes beyond identifying ultrasound markers for aneuploidies. Its objectives include determining the number of fetuses and assessing chorionicity and amnionicity in cases of twin pregnancies; establishing gestational age; detecting major structural anomalies and evaluating uterine arteries for pre-eclampsia.
在妊娠11 + 0周至13 + 6周期间进行的妊娠早期超声检查,除了识别非整倍体的超声标记外,还起着重要的作用。其目的包括确定胎儿数量,评估双胎妊娠的绒毛膜性和羊膜性;确定胎龄;检测主要结构异常和评估子宫动脉先兆子痫。
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引用次数: 0
Long-term neurodevelopmental outcomes after intrauterine transfusion for alloimmune hemolytic disease of the fetus and newborn 胎儿和新生儿同种免疫溶血性疾病宫内输血后的长期神经发育结局。
IF 4.1 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-10-25 DOI: 10.1016/j.bpobgyn.2025.102680
Jeanine M.M. van Klink , Derek P. de Winter , Renske M. van ‘t Oever , Ratna N.G.B. Tan , E.J.T. Verweij Joanne , Masja de Haas , Enrico Lopriore
The mainstay for the management and treatment of severe alloimmune hemolytic disease of the fetus and newborn (HDFN) is based on timely detection and intrauterine transfusions (IUT) in cases with severe fetal anemia. Although long-term neurodevelopmental outcomes in children born following IUT for HDFN are nowadays considered ‘favorable’, reliable long-term outcome data remain scarce. Several studies suggests that children with a history of severe hydrops, cerebral injury, and preterm birth are at increased risk for neurodevelopmental impairment (NDI). However, follow-up studies are limited by small sample sizes, the absence of control groups, inconsistent criteria for neurodevelopmental outcome, and a lack of standardized developmental assessments. The prevalence of NDI in the literature to date is reported to be around 5 % but varies from 0 % to 18.8 %, depending on the studied cohort. When interpreting the data and extrapolating conclusions to the general population, consideration must be given to the fact that the majority was born moderate to late preterm, a population inherently at increased risk for adverse neurodevelopmental outcomes. Future research should incorporate more subtle impairments, as mild to moderate cognitive deficits, learning problems and socioemotional and behavioral difficulties can substantially impact long-term care needs and socioeconomic potential. A deeper understanding of the effects of fetal anemia and IUT on neurodevelopmental trajectories will enable effective screening and the implementation of timely, targeted interventions to optimize developmental outcomes for children at risk. In addition, the impact of the complicated pregnancy on the wellbeing of parents and the child-caregiver relationship is an underexposed and understudied outcome measure. With the introduction of new non-invasive therapies, international collaborative efforts are of utmost importance to reliably investigate not just survival or neonatal outcome but also long-term neurodevelopment and wellbeing of children and caregivers.
对严重的胎儿和新生儿同种免疫溶血性疾病(hhdn)的管理和治疗的主要方法是及时发现并在严重胎儿贫血的情况下进行宫内输注(IUT)。尽管目前认为,IUT治疗hdf后出生的儿童的长期神经发育结果是“有利的”,但可靠的长期结果数据仍然很少。几项研究表明,有严重水肿、脑损伤和早产史的儿童发生神经发育障碍(NDI)的风险增加。然而,由于样本量小、缺乏对照组、神经发育结果的标准不一致以及缺乏标准化的发育评估,后续研究受到限制。迄今为止,文献中报道的NDI患病率约为5%,但根据所研究的队列,患病率从0%到18.8%不等。在对一般人群解释数据和推断结论时,必须考虑到这样一个事实,即大多数人出生时中度至晚期早产,这一人群天生就存在不良神经发育结果的风险增加。未来的研究应该纳入更多细微的损伤,因为轻度到中度的认知缺陷、学习问题、社会情绪和行为困难会严重影响长期护理需求和社会经济潜力。更深入地了解胎儿贫血和IUT对神经发育轨迹的影响,将有助于有效筛查和及时实施有针对性的干预措施,以优化高危儿童的发育结果。此外,复杂的怀孕对父母健康和儿童照顾关系的影响是一个未被充分暴露和研究的结果衡量标准。随着新的非侵入性治疗方法的引入,国际合作的努力对于可靠地调查不仅是生存或新生儿结局,而且是儿童和照顾者的长期神经发育和健康至关重要。
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引用次数: 0
Clinical management in FNAIT – navigating a complicated landscape FNAIT的临床管理-导航一个复杂的景观。
IF 4.1 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-10-25 DOI: 10.1016/j.bpobgyn.2025.102681
Heidi Tiller , Maria Therese Ahlen
Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is the primary cause of severe neonatal thrombocytopenia and fetal/neonatal intracranial hemorrhage (ICH) in otherwise healthy term newborns. FNAIT occurs in 0.5–1:1000 newborns. FNAIT may occur if the mother and fetus have incompatible platelet antigens, leading to maternal alloimmunization with antibodies targeting the fetal platelets. The main clinical concern is the risk of ICH, with a reported incidence of 1:10,000 newborns. Most bleedings occurs prior to delivery. Due to the lack of HPA-1a screening in pregnancy, most pregnancies complicated by FNAIT are not diagnosed until after birth and the condition is underdiagnosed.
Current antenatal management protocols are focused on subsequent pregnancies, when a mother has had a previously affected neonate. The primary goal of treatment during the subsequent pregnancy is to prevent ICH in the current fetus/neonate. The predicted risk of ICH in subsequent pregnancies depends mainly on whether the previous FNAIT-affected sibling had ICH or not.
In most Western countries, weekly off-label administration of high-dose IVIg is used for pregnant HPA-1a-alloimmunized women to prevent ICH in the fetus/newborn. However, many experts advocate for a more stratified approach that limits which at-risk pregnancies are offered IVIg.
This non-systematic expert review will focus on ante- and perinatal clinical management of FNAIT, addressing both clinical (non-screening) and screening scenarios.
胎儿和新生儿同种免疫性血小板减少症(FNAIT)是严重的新生儿血小板减少症和胎儿/新生儿颅内出血(ICH)在其他健康足月新生儿的主要原因。新生儿中FNAIT发生率为0.5-1:1000。如果母亲和胎儿的血小板抗原不相容,导致母亲的同种异体免疫抗体靶向胎儿的血小板,可能会发生FNAIT。主要的临床问题是脑出血的风险,据报道其发病率为1:10 000新生儿。大多数出血发生在分娩前。由于妊娠期缺乏HPA-1a筛查,大多数合并FNAIT的妊娠直到出生后才被诊断出来,病情未得到充分诊断。目前的产前管理方案侧重于母亲先前有过受影响新生儿的后续妊娠。后续妊娠期间治疗的主要目标是预防当前胎儿/新生儿发生脑出血。预测今后妊娠发生脑出血的风险主要取决于先前受fnait影响的兄弟姐妹是否患有脑出血。在大多数西方国家,怀孕的hpa -1a异体免疫妇女每周使用高剂量IVIg,以防止胎儿/新生儿发生脑出血。然而,许多专家主张采取一种更分层的方法,限制那些有风险的怀孕提供IVIg。这篇非系统的专家综述将侧重于FNAIT的产前和围产期临床管理,解决临床(非筛查)和筛查两种情况。
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引用次数: 0
Hormonal methods for fertility regulation 调节生育的激素方法
IF 4.1 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-09-22 DOI: 10.1016/j.bpobgyn.2025.102671
Raymond Hang-Wun Li
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引用次数: 0
Hormonal contraception in perimenopausal women 围绝经期妇女的激素避孕
IF 4.1 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Pub Date : 2025-09-02 DOI: 10.1016/j.bpobgyn.2025.102655
Sara Whitburn , Kathleen McNamee , Clare Boerma , Deborah Bateson
Contraception can be an overlooked aspect of perimenopausal healthcare. While background fertility is low, pregnancies in those aged over 40 years present a higher risk both to the fetus and mother, and have a higher chance of ending in miscarriage or abortion, compared to pregnancies in younger women. This chapter provides a review of key issues related to hormonal contraception in the perimenopause and evaluates each method's effectiveness and safety at a stage of life when venous and cardiovascular disease risks increase. Suitability is assessed considering the person's needs, circumstances and contraindications. Attention is also given to non-contraceptive advantages of certain methods, such as management of perimenopausal symptoms, heavy bleeding and reduction of risks for certain cancers. By highlighting current research and clinical guidelines, this chapter aims to equip healthcare providers with knowledge to support perimenopausal women in making informed reproductive health decisions.
避孕可能是围绝经期保健的一个被忽视的方面。虽然背景生育率很低,但与年轻女性相比,40岁以上的女性怀孕对胎儿和母亲都有更高的风险,流产或流产的几率也更高。本章综述了与围绝经期激素避孕相关的关键问题,并评估了每种方法在静脉和心血管疾病风险增加的生命阶段的有效性和安全性。考虑到个人的需要、情况和禁忌症,评估适宜性。还注意到某些方法的非避孕优点,例如控制围绝经期症状、大出血和减少某些癌症的风险。通过强调当前的研究和临床指导方针,本章旨在为医疗保健提供者提供知识,以支持围绝经期妇女做出知情的生殖健康决定。
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引用次数: 0
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