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A SYSTEMATIC REVIEW OF BIRTH WEIGHT DISCORDANCE AND PERINATAL OUTCOMES 出生体重不一致与围产期结局的系统综述
Pub Date : 2014-11-01 DOI: 10.1017/S0965539516000012
S. Jahanfar, K. Lim
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引用次数: 3
Gene therapy for obstetric conditions 产科疾病的基因治疗
Pub Date : 2014-11-01 DOI: 10.1017/S0965539515000030
R. Spencer, D. Carr, A. David
The first clinical trials of gene therapy in the 1990s offered the promise of a new paradigm for the treatment of genetic diseases. Over the decades that followed the challenges and setbacks which gene therapy faced often overshadowed any successes. Despite this, recent years have seen cause for renewed optimism. In 2012 Glybera™, an adeno-associated viral vector expressing lipoprotein lipase, became the first gene therapy product to receive marketing authorisation in Europe, with a licence to treat familial lipoprotein lipase deficiency. This followed the earlier licensing in China of two gene therapies: Gendicine™ for head and neck squamous cell carcinoma and Oncorine™ for late-stage nasopharyngeal cancer. By this stage over 1800 clinical trials had been, or were being, conducted worldwide, and the therapeutic targets had expanded far beyond purely genetic disorders. So far no trials of gene therapy have been carried out in pregnancy, but an increasing understanding of the molecular mechanisms underlying obstetric diseases means that it is likely to have a role to play in the future. This review will discuss how gene therapy works, its potential application in obstetric conditions and the risks and limitations associated with its use in this setting. It will also address the ethical and regulatory issues that will be faced by any potential clinical trial of gene therapy during pregnancy.
20世纪90年代,基因疗法的首次临床试验为基因疾病的治疗提供了一个新的范例。在接下来的几十年里,基因疗法面临的挑战和挫折往往掩盖了任何成功。尽管如此,近年来人们有理由重新乐观起来。2012年,表达脂蛋白脂肪酶的腺相关病毒载体Glybera™成为首个在欧洲获得上市许可的基因治疗产品,获得了治疗家族性脂蛋白脂肪酶缺乏症的许可。此前,两种基因疗法在中国获得许可:用于头颈鳞状细胞癌的Gendicine™和用于晚期鼻咽癌的Oncorine™。到这个阶段,全世界已经或正在进行1800多项临床试验,治疗目标已经远远超出了纯粹的遗传疾病。到目前为止,还没有在怀孕期间进行基因治疗的试验,但对产科疾病的分子机制的日益了解意味着它可能在未来发挥作用。这篇综述将讨论基因治疗是如何工作的,它在产科疾病中的潜在应用,以及在这种情况下使用它的风险和局限性。它还将解决怀孕期间基因治疗的任何潜在临床试验将面临的伦理和监管问题。
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引用次数: 0
A SYSTEMATIC REVIEW OF MATERNAL CALCIUM SUPPLEMENTATION AND PAEDIATRIC HEALTH 产妇补钙与儿童健康的系统综述
Pub Date : 2014-11-01 DOI: 10.1017/S0965539515000042
Shorok Ali Al Dorazi, W. A. Talalwah
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引用次数: 0
PREGNANCY ASSOCIATED HEPATOBILIARY DYSFUNCTION 妊娠相关肝胆功能障碍
Pub Date : 2014-11-01 DOI: 10.1017/S0965539516000073
A. Kaul, B. Thilaganathan, T. Rahman
Physiological changes associated with pregnancy are well documented, the liver is no exception. Changes to maternal physiology during pregnancy can give rise to a change in liver function tests.
与怀孕有关的生理变化是有据可查的,肝脏也不例外。怀孕期间产妇生理的变化可引起肝功能检查的变化。
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引用次数: 1
FETAL AND MATERNAL CONSEQUENCES OF PREGNANCIES CONCEIVED USING ART 使用人工受孕对胎儿和母亲的影响
Pub Date : 2014-11-01 DOI: 10.1017/S096553951600005X
C. Aiken, J. Brockelsby
Artificial reproductive technology (ART) was first introduced to clinical practice in the late 1970s 1 and has subsequently resulted in approximately 5 million births worldwide 2 . Globally, the rates of assisted conceptions continue to rise 3 . In 2011, approximately 1.5% of all pregnancies in the US were conceived using ART 4 . Since its introduction, much interest has been generated regarding the effects of ART on the developing fetus and potential adverse impacts on the health of the mother. In particular, early studies suggested an increase in fetal genetic and structural anomalies, and a high risk of perinatal complications. As experience with pregnancies conceived using ART has increased worldwide and more data regarding the outcomes of ART-conceived pregnancies have been reported, many of the initial worries have been shown to be unfounded. However, concern still exists regarding whether any adverse fetal and maternal outcomes result from the use of this technology. Many studies have reported higher risks of fetal complications following the use of ART including an increase in perinatal mortality, even in singleton pregnancies 5,6 . However, interpretation of these data are far from simple and it is important to consider that observations of higher rates of complications do not equate to a causal relationship between adverse pregnancy outcomes and the use of ART 7 . There are multiple confounding factors that may account for these associations, many of which are difficult to control for in large-scale studies.
人工生殖技术(ART)于20世纪70年代末首次被引入临床实践1,随后在全球范围内导致约500万新生儿2。在全球范围内,辅助受孕率继续上升。2011年,美国约1.5%的孕妇使用ART 4。自引进以来,人们对抗逆转录病毒治疗对发育中的胎儿的影响以及对母亲健康的潜在不利影响产生了极大的兴趣。特别是,早期研究表明胎儿遗传和结构异常增加,围产期并发症风险高。随着世界范围内使用抗逆转录病毒治疗怀孕的经验的增加以及关于抗逆转录病毒治疗怀孕结果的更多数据的报告,许多最初的担忧已被证明是没有根据的。然而,关于使用该技术是否会导致胎儿和母亲的不良后果,仍然存在关注。许多研究报告说,使用抗逆转录病毒治疗后胎儿并发症的风险更高,包括围产期死亡率增加,即使是单胎妊娠也是如此。然而,对这些数据的解释远非简单,重要的是要考虑到,观察到并发症发生率较高并不等同于不良妊娠结局与ART 7的使用之间存在因果关系。有多种混杂因素可以解释这些关联,其中许多在大规模研究中难以控制。
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引用次数: 2
RECENT DEVELOPMENTS in NON-INVASIVE PRENATAL DIAGNOSIS and TESTING 无创产前诊断和检测的最新进展
Pub Date : 2014-11-01 DOI: 10.1017/S0965539516000061
S. Drury, M. Hill, L. Chitty
The ability to obtain fetal material that could be used for prenatal genetic diagnosis without requirement for an invasive test was a watershed moment in antenatal care. Cell-free fetal DNA (cffDNA) was identified in the maternal plasma by Lo and colleagues in 1997 1 and despite being technically challenging, non-invasive tests for fetal sex determination, fetal rhesus D ( RHD ) genotyping, some single gene disorders and the major aneuploidies are now being offered in clinical practice throughout the world 2 . Progress continues at pace and recent developments in next generation sequencing (NGS) are driving significant advances in research and in the clinical application of non-invasive prenatal testing (NIPT) and diagnosis (NIPD) ( Table 1 ).
能够获得胎儿材料,可以用于产前遗传诊断,而不需要侵入性测试是产前保健的分水岭时刻。Lo及其同事于1997年在母体血浆中发现了无细胞胎儿DNA (cffDNA),尽管在技术上具有挑战性,但胎儿性别测定、胎儿恒河猴D (RHD)基因分型、一些单基因疾病和主要非整倍体的无创检测目前已在世界各地的临床实践中提供2。新一代测序(NGS)的最新发展正在推动无创产前检测(NIPT)和诊断(NIPD)的研究和临床应用取得重大进展(表1)。
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引用次数: 3
IMMEDIATE POST-NATAL AIRWAY MANAGEMENT WHERE THERE ARE ANTENATAL CONCERNS 在有产前问题的情况下,立即进行产后气道管理
Pub Date : 2014-11-01 DOI: 10.1017/S0965539516000024
N. Tan, N. Jonas
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引用次数: 0
Intracellular Organisms as Placental Invaders. 作为胎盘入侵者的细胞内生物。
Pub Date : 2014-11-01 DOI: 10.1017/S0965539515000066
M. Vigliani, A. Bakardjiev
In this article we present a novel model for how the human placenta might get infected via the hematogenous route. We present a list of diverse placental pathogens, like Listeria monocytogenes or Cytomegalovirus, which are familiar to most obstetricians, but others, like Salmonella typhi, have only been reported in case studies or small case series. Remarkably, all of these organisms on this list are either obligate or facultative intracellular organisms. These pathogens are able to enter and survive inside host immune cells for at least a portion of their life cycle. We suggest that many blood-borne pathogens might arrive at the placenta via transportation inside of maternal leukocytes that enter the decidua in early pregnancy. We discuss mechanisms by which extravillous trophoblasts could get infected in the decidua and spread infection to other layers in the placenta. We hope to raise awareness among OB/GYN clinicians that organisms not typically associated with the TORCH list might cause placental infections and pregnancy complications.
在这篇文章中,我们提出了一个关于人类胎盘如何通过血液途径感染的新模型。我们列出了各种胎盘病原体的清单,如单核细胞增生李斯特菌或巨细胞病毒,这是大多数产科医生所熟悉的,但其他的,如伤寒沙门氏菌,只在病例研究或小病例系列中报道。值得注意的是,列表上的所有生物都是专性或兼性细胞内生物。这些病原体能够进入并在宿主免疫细胞内存活至少一段生命周期。我们认为许多血源性病原体可能在妊娠早期通过母体白细胞进入蜕膜内的运输到达胎盘。我们讨论了绒毛外滋养细胞在蜕膜中感染并将感染传播到胎盘其他层的机制。我们希望提高妇产科临床医生的意识,即与TORCH列表无关的生物体可能导致胎盘感染和妊娠并发症。
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引用次数: 17
Non-Invasive Methods for Maternal Cardiac Output Monitoring 产妇心输出量监测的无创方法
Pub Date : 2014-11-01 DOI: 10.1017/S0965539515000054
A. Staelens, P. Bertrand, S. Vonck, M. Malbrain, W. Gyselaers
In a non-obstetric population, the optimization of cardiac output (CO) had been shown to improve survival and to reduce postoperative complications, organ failure and the length of stay 1 . CO monitoring might be very useful in the obstetric population as well, as physiologic changes of CO during pregnancy are mandatory for a normal outcome. An uncomplicated pregnancy is associated with a 50% increase in maternal CO, which is mediated by plasma volume expansion and a decrease in peripheral resistance 2 . An aberrant change of this maternal CO might influence pregnancy outcome: pregnancies complicated with foetal growth restriction and/or preeclampsia are characterized by increased total vascular resistance and reduced systolic function (i.e. lower CO and stroke volume (SV)) 3 – 5 .
在非产科人群中,优化心输出量(CO)已被证明可以提高生存率,减少术后并发症、器官衰竭和住院时间1。CO监测可能对产科人群也非常有用,因为怀孕期间CO的生理变化是正常结果的必要条件。无并发症妊娠与母体CO升高50%相关,这是由血浆容量扩张和外周阻力降低介导的2。母体CO的异常变化可能影响妊娠结局:妊娠合并胎儿生长受限和/或先兆子痫的特点是总血管阻力增加和收缩功能降低(即CO和卒中容积(SV)降低)3 - 5。
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引用次数: 0
FREE FETAL DNA AS A SCREENING TEST FOR ANEUPLOIDY – DOES IT ADD UP? 游离胎儿DNA作为非整倍体的筛查测试-它加起来吗?
Pub Date : 2014-11-01 DOI: 10.1017/S0965539515000091
C. Ogilvie
The possibility of prenatal screening for genetic disorders was raised as early as the mid-1950s, and with the introduction in 1966 of amniocentesis for sampling fetal material, it became possible to identify pregnancies with trisomy 21 (Down syndrome), the most common prenatal genetic abnormality. The fetal cells in the amniotic fluid could be cultured, then harvested, followed by chromosome spreading on microscope slides. These chromosome spreads, each representing the chromosomes from a single cell nucleus, could be stained, visualised by light microscopy and counted to establish the chromosome number. However, diagnosis of Down syndrome was expensive, and in the early days of amniocentesis, there was an associated risk of miscarriage; most countries therefore recommended this procedure only for women who were identified as having a raised risk of chromosome abnormality. As it is well established that raised maternal age increases the risk of Down syndrome, amniocentesis was first offered only to women above an age cut-off (usually 35). However, although the risk to an individual woman of having a Down syndrome pregnancy is greater in this age group, the majority of Down syndrome babies are born to younger women, due to the preponderance of pregnancies in the younger group.
早在20世纪50年代中期就提出了产前筛查遗传疾病的可能性,随着1966年引入羊膜穿刺术对胎儿材料进行取样,鉴定患有21三体(唐氏综合症)的孕妇成为可能,这是最常见的产前遗传异常。羊水中的胎儿细胞可以培养,然后收获,然后在显微镜载玻片上进行染色体扩增。这些染色体分布,每一个代表来自单个细胞核的染色体,可以被染色,用光学显微镜观察并计数以确定染色体数目。然而,唐氏综合症的诊断是昂贵的,在羊膜穿刺术的早期,有流产的风险;因此,大多数国家只建议被确定为染色体异常风险较高的妇女使用该程序。由于众所周知,提高产妇年龄会增加唐氏综合症的风险,羊膜穿刺术最初只提供给超过年龄限制(通常是35岁)的妇女。然而,尽管这个年龄段的女性患唐氏综合症怀孕的风险更大,但大多数唐氏综合症婴儿都是由年轻女性所生,因为年轻女性怀孕的比例更高。
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Fetal and maternal medicine review
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