fetal death

胎儿死亡
  • 文章类型: Systematic Review
    最近的研究表明,胎儿暴露于抗抑郁药(ADs)与胎儿死亡显着相关,包括死产.然而,对怀孕期间AD暴露时间的调查有限,每种药物的具体效果,以及指征偏差的可能性。为了解决这些知识上的差距,我们使用世卫组织安全数据库(VigiBases®)对文献和不相称性分析进行了系统回顾.系统评价提供了在妊娠任何时间接触任何选择性5-羟色胺再摄取抑制剂(SSRI)的胎儿死亡风险增加的证据。在妊娠早期暴露于任何AD的死产,和在妊娠早期暴露于任何SSRI的死产。不成比例分析显示与西酞普兰有显著关联,氯米帕明,帕罗西汀,舍曲林,和文拉法辛.结合两组结果,我们得出结论,暴露于广告,尤其是在怀孕的头三个月,似乎与胎儿死亡率有关,胎盘转移最高的AD可能特别涉及。进一步的研究应该调查妊娠早期AD与胎儿死亡率之间的联系。
    Recent research suggests that fetal exposure to antidepressants (ADs) is significantly associated with fetal death, including stillbirth. However, there has been limited investigation into the timing of AD exposure during pregnancy, the specific effect of each drug, and the possibility of indication bias. To address these gaps in knowledge, we conducted a systematic review of literature and disproportionality analyses using the WHO Safety Database (VigiBaseⓇ). The systematic review provided evidence for increased risks of fetal death with exposure to any selective serotonin reuptake inhibitor (SSRI) at any time of pregnancy, stillbirth with exposure to any AD during the first trimester, and stillbirth with exposure to any SSRI during the first trimester. Disproportionality analyses revealed significant associations with citalopram, clomipramine, paroxetine, sertraline, and venlafaxine. Combining both sets of results, we conclude that exposure to ADs, especially during the first trimester of pregnancy, seems to be associated with fetal mortality, and that ADs with highest placental transfer may be particularly involved. Further research should investigate the links between ADs during early pregnancy and fetal mortality.
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  • 文章类型: Systematic Review
    目的:外显子组或基因组测序(ES或GS)可以确定原因不明的先天性异常和围产期死亡(PND)的遗传原因,但不是常规实践。已经合成了胎儿异常(TOPFA)和PND终止妊娠后的“基因组尸检”的证据基础,以确定这项研究的价值。
    方法:我们对符合预先指定的纳入标准的研究进行了系统评价和荟萃分析,包含≥10例TOPFA或PND(伴或不伴重大先天性异常),进行ES或GS的地方。我们确定了测试性能,包括诊断产量,准确性和可靠性。我们还报告了与临床效用和危害相关的结果,描述的地方。
    结果:来自2,245项可能符合条件的研究,32篇出版物符合条件,并提取了数据;代表2120例可以进行荟萃分析。没有确定诊断准确性或比较研究,尽管可以对不同ES/GS方法之间的一致性进行一些分析。报告与父母相关的结果或长期随访的研究并未以系统或可量化的方式进行。
    结论:证据表明,与TOPFA或无法解释的PND相关的约1/4至1/3的胎儿丢失与ES或GS上可识别的遗传原因相关-尽管该估计值因表型和背景风险因素而异。尽管有大量关于ES和GS的证据,很少有研究试图验证测试的准确性,也不衡量在这种情况下接受诊断调查的家庭的临床或社会结局。
    OBJECTIVE: Exome or genome sequencing (ES or GS) can identify genetic causes of otherwise unexplained congenital anomaly and perinatal death (PND) but is not routine practice. The evidence base for \"genomic autopsy\" after termination of pregnancy for fetal anomaly (TOPFA) and PND has been synthesized to determine the value of this investigation.
    METHODS: We conducted a systematic review and meta-analysis of studies meeting prespecified inclusion criteria and containing ≥10 cases of TOPFA or PND (with or without major congenital abnormality), in which ES or GS was conducted. We determined test performance, including diagnostic yield, accuracy, and reliability. We also reported outcomes associated with clinical utility and harms, where described.
    RESULTS: From 2245 potentially eligible studies, 32 publications were eligible and had data extracted, representing 2120 cases that could be meta-analyzed. No diagnostic accuracy or comparative studies were identified, although some analysis of concordance between different ES/GS methodologies could be performed. Studies reporting parent-related outcomes or long-term follow-up did not do so in a systematic or quantifiable manner.
    CONCLUSIONS: Evidence suggests that approximately one-fourth to one-third of fetal losses associated with TOPFA or unexplained PND are associated with a genetic cause identifiable on ES or GS-albeit this estimate varies depending on phenotypic and background risk factors. Despite the large body of evidence on ES and GS, little research has attempted to validate the accuracy of testing, nor measure the clinical or societal outcomes in families that follow the diagnostic investigation in this context.
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  • 文章类型: Journal Article
    背景:在全球范围内,死产数据有限。已向各国政府发出行动呼吁,通过加强国家政策和战略来推动减少死产的紧急行动,以解决数据差距。本研究旨在了解死产的政策环境,以促进数据系统中的死产记录和报告。
    方法:系统的三步过程(调查工具检查,确定相关的研究问题,并审查了各国对调查和国家文件的答复),以审查各国对2018-2019年全球世界卫生组织(世卫组织)生殖,产妇,新生儿,儿童和青少年健康(RMNCAH)政策调查。审查了政策调查的答复,以确定是否以及如何将死产纳入国家文件。本文使用描述性分析来识别和描述多个变量之间的关系。
    结果:分析了155个国家对调查的反应,各国以英文提交的800多份国家政策文件进行了审查。不到五分之一的国家制定了死胎率(SBR)目标,5岁以下儿童(71.0%)和新生儿死亡率(68.5%)的比例较高。三分之二(65.8%)的国家报告了国家孕产妇死亡审查小组。不到一半(43.9%)的国家制定了要求对死胎进行审查的国家政策。三分之二的国家制定了国家政策,要求对新生儿死亡进行审查。世卫组织网站和国家卫生统计报告是死产估计的常见数据来源。签署减少死产全球倡议的国家已经制定了国家目标。全球范围内,几乎所有国家(94.8%)都有国家政策,要求对每一个死亡病例进行登记。然而,在经过审查的国家政策文件中,有45.5%提到了死胎登记。只有5个国家有国家政策文件建议培训卫生工作者使用国际疾病分类(ICD)-10填写死产死亡证明。
    结论:各国目前的政策环境不支持识别死胎和记录死亡原因。这可能会导致减少死产的进展缓慢。本文提出了政策建议,以使每个婴儿都计数。
    BACKGROUND: Globally, data on stillbirth is limited. A call to action has been issued to governments to address the data gap by strengthening national policies and strategies to drive urgent action on stillbirth reduction. This study aims to understand the policy environment for stillbirths to advance stillbirth recording and reporting in data systems.
    METHODS: A systematic three-step process (survey tool examination, identifying relevant study questions, and reviewing country responses to the survey and national documents) was taken to review country responses to the global 2018-2019 World Health Organization (WHO) Reproductive, Maternal, Neonatal, Child and Adolescent Health (RMNCAH) Policy Survey. Policy Survey responses were reviewed to identify if and how stillbirths were included in national documents. This paper uses descriptive analyses to identify and describe the relationship between multiple variables.
    RESULTS: Responses from 155 countries to the survey were analysed, and over 800 national policy documents submitted by countries in English reviewed. Fewer than one-fifth of countries have an established stillbirth rate (SBR) target, with higher percentages reported for under-5 (71.0%) and neonatal mortality (68.5%). Two-thirds (65.8%) of countries reported a national maternal death review panel. Less than half (43.9%) of countries have a national policy that requires stillbirths to be reviewed. Two-thirds of countries have a national policy requiring review of neonatal deaths. WHO websites and national health statistics reports are the common data sources for stillbirth estimates. Countries that are signatories to global initiatives on stillbirth reduction have established national targets. Globally, nearly all countries (94.8%) have a national policy that requires every death to be registered. However, 45.5% of reviewed national policy documents made mention of registering stillbirths. Only 5 countries had national policy documents recommending training of health workers in filling out death certificates using the International Classification of Diseases (ICD)-10 for stillbirths.
    CONCLUSIONS: The current policy environment in countries is not supportive for identifying stillbirths and recording causes of death. This is likely to contribute to slow progress in stillbirth reduction. The paper proposes policy recommendations to make every baby count.
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  • 文章类型: Review
    目的:为胎儿死亡后经历悲伤的父母提供有关护理的科学证据。
    方法:在六个数据库中对原始研究进行了综合综述。根据证据水平对研究进行分类。
    结果:对包含样本的九项研究的定性分析涉及主题类别,探索围产期死亡对家庭的影响,医疗保健专业人员沟通不足,以及整体护理方法的重要性。强调护士的作用是为团队做出积极贡献,强调参与培训和提供基本信息。
    结论:悲伤不仅影响家庭动态,而且影响社会环境,强调采取更有同情心和更全面的方法的紧迫性。护理应该是整体的,超越技术护理援助,解决父母的生物心理社会背景。
    OBJECTIVE: to identify scientific evidence regarding nursing care for parents who have experienced grief following fetal demise.
    METHODS: an integrative review of original studies was conducted across six databases. The studies were classified according to the level of evidence.
    RESULTS: the qualitative analysis of the nine studies comprising the sample involved thematic categories, exploring the impact of perinatal loss on families, inadequate communication by healthcare professionals, and the importance of a holistic approach in care. The role of the nurse is highlighted in making a positive contribution to the team, emphasizing participation in training and the provision of essential information.
    CONCLUSIONS: grieving affects not only family dynamics but also the social environment, emphasizing the urgency of a more empathetic and comprehensive approach. Care should be holistic, going beyond technical nursing assistance, and addressing the biopsychosocial context of the parents.
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  • 文章类型: Journal Article
    目的:评估孤立的胎儿腹内脐静脉静脉曲张(i-FIUVV)胎儿宫内死亡(IUFD)和胎儿生长受限(FGR)的风险。
    方法:进行了一项回顾性队列研究,结合文献的系统评价和荟萃分析。在回顾性队列研究中,对阿姆斯特丹UMC胎儿医学单位(2007年至2023年)中所有使用i-FIUVV的单胎胎儿进行了分析.主要结局指标为IUFD和FGR。IUFD和FGR的样本比例被描述为风险百分比。将IUFD比例与区域参考人群进行了比较,并将FGR比例与欧洲报告的比例进行了比较。次要结局指标是诊断时的胎龄,初始和最大FIUVV直径,怀孕期间的胎儿监测,静脉曲张中的湍流,静脉曲张中的血栓形成,引产,出生时的胎龄,出生体重百分位数。将出生体重低于10个百分位数的胎儿比例与区域参考人群的比例进行比较。系统评价包括2007年至2023年之间发表的合格文献中的所有病例,并补充了我们的回顾性队列研究数据。在系统评价和荟萃分析中,在使用i-FIUVV的胎儿中评估IUFD和FGR的合并比例.
    结果:回顾性队列包括43例I-FIUVV患者。IUFD风险为0%[置信区间,CI:0%-8.2%],与参考人群中的0.3%没有显着差异,p=1.0。在研究人群中,FGR的风险为16.3%[CI:6.8%-30.7%],这高于欧洲报道的FGR发病率,范围为5%-10%。与参考人群相比,我们队列中出生体重低于10百分位数的胎儿比例更高(23.3vs.9.9%,p<0.01)。系统综述包括12篇文章,三个摘要,和我们目前的队列。总的来说,包括513例i-FIUVV。IUFD的合并风险为0.4%[CI:0.1%-1.7%],FGR为5.2%[CI:1.1%-21.3%]。在队列(38.7周)和汇总文献(37.6周)中,出生时的平均胎龄均不超过39周。
    结论:单胎中的i-FIUVV与妊娠39周IUFD风险增加无关,但可能与FGR有关。我们队列中FGR的发生率高于汇总文献(16.3%vs.5%),但纳入研究的FGR定义各不相同。我们队列中低于第10百分位数的出生体重比例显着高于参考组。因此,基于这些发现,我们建议进行超声生长评估,同时评估i-FIUVV。在妊娠39周之前,没有进一步的监测和随访。妊娠39周后,缺乏i-FIUVV胎儿及其结局的数据。
    To assess the risk of intrauterine fetal death (IUFD) and fetal growth restriction (FGR) in fetuses with an isolated fetal intra-abdominal umbilical vein varix (i-FIUVV).
    A retrospective cohort study combined with a systematic review and meta-analysis of the literature was performed. In the retrospective cohort study, all singleton fetuses with an i-FIUVV in the fetal medicine units of the Amsterdam UMC (between 2007 and 2023) were analyzed. The primary outcome measures were IUFD and FGR. The sample proportions of IUFD and FGR were depicted as risk percentages. The IUFD proportion was compared to the regional reference population and the FGR proportion was compared to the reported proportions in Europe. The secondary outcome measures were gestational age at diagnosis, initial and maximal FIUVV diameter, fetal monitoring in pregnancy, turbulent flow in the varix, thrombus formation in the varix, induction of labor, gestational age at birth, and birthweight centile. The proportion of fetuses with a birthweight below the 10th centile was compared with that of the regional reference population. The systematic review included all cases from eligible literature published between 2007 and 2023 supplemented by the data of our retrospective cohort study. In the systematic review and meta-analysis, the pooled proportions of IUFD and FGR were assessed in fetuses with i-FIUVV.
    The retrospective cohort included 43 singletons with an i-FIUVV. The IUFD risk was 0% [Confidence Interval, CI: 0%-8.2%], which did not differ significantly from 0.3% in the reference population, p = 1.0. The risk of FGR was 16.3% [CI: 6.8%-30.7%] in the studied population, which is higher than the reported incidence of FGR in Europe ranging from 5%-10%. The proportion of fetuses with birthweights below the 10th centile was higher in our cohort compared with the reference population (23.3 vs. 9.9%, p < 0.01). The systematic review included 12 articles, three abstracts, and our current cohort. In total, 513 cases with an i-FIUVV were included. The pooled risk was 0.4% [CI: 0.1%-1.7%] for IUFD and 5.2% [CI: 1.1%-21.3%] for FGR. The mean gestational age at birth did not exceed 39 weeks in neither the cohort (38.7 weeks) nor the pooled literature (37.6 weeks).
    An i-FIUVV in singletons is not associated with an increased IUFD risk up to 39 weeks of gestation but is possibly associated with FGR. The incidence of FGR in our cohort was higher than in the pooled literature (16.3% vs. 5%) but FGR definitions in the included studies varied. The proportion of birthweights below the 10th percentile in our cohort was significantly higher than in the reference group. Thus, based on these findings, we suggest conducting sonographic growth assessments while simultaneously assessing the i-FIUVV. No further monitoring and follow-up are indicated up to 39 weeks of gestation. After 39 weeks of gestation, data on fetuses with i-FIUVV and their outcomes are lacking.
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  • 文章类型: Journal Article
    目的:我们进行了系统评价和荟萃分析,以检查死胎与后续妊娠中各种围产期结局之间的关系。
    方法:PubMed,Cochrane图书馆,Embase,WebofScience,和CNKI数据库被搜索到2023年7月。
    方法:队列研究报告了死胎与后续妊娠围产期结局之间的关联。
    方法:我们根据PRISMA指南进行了系统评价和荟萃分析。使用R和STATA软件进行统计学分析。我们使用随机效应模型来汇集每个感兴趣的结果。我们进行了荟萃回归分析以探索潜在的异质性。证据评估的确定性(质量)采用GRADE方法。
    结果:纳入了19项队列研究,涉及4,855,153名参与者。从这些研究中,我们确定了28,322例先前死产的个体符合资格标准。在调整了混杂因素后,低到中等确定性的证据表明,与先前在随后的怀孕中有活产的妇女相比,先前有死胎的妇女有更高的复发性死胎风险(OR:2.68,95%CI:2.01至3.56),早产(OR:3.15,95%CI:2.07至4.80),新生儿死亡(OR:4.24,95%CI:2.65至6.79),SGA/IUGR(OR:1.3,95%CI:1.0至1.8),低出生体重(OR:3.32,95%CI:1.46至7.52),胎盘早剥(OR:3.01,95%CI:1.01至8.98),仪器交付(OR:2.29,95%CI:1.68至3.11),引产(OR:4.09,95%CI:1.88至8.88),剖腹产(OR:2.38,95%CI:1.20至4.73),选择性剖腹产(OR:2.42,95%CI:1.82至3.23),和紧急剖腹产(OR:2.35,95%CI:1.81至3.06),但自然分娩率较低(OR:0.22,95%CI:0.13至0.36)。然而,既往死胎与后续妊娠中的先兆子痫无相关性(OR:1.72,95%CI:0.63~4.70).
    结论:我们的系统评价和荟萃分析提供了更全面的了解与先前死产相关的不良妊娠结局。这些发现可用于为考虑在先前的死产后生孩子的夫妇提供咨询。
    We conducted a systematic review and meta-analysis to examine the relationship between stillbirth and various perinatal outcomes in subsequent pregnancy.
    PubMed, the Cochrane Library, Embase, Web of Science, and CNKI databases were searched up to July 2023.
    Cohort studies that reported the association between stillbirth and perinatal outcomes in subsequent pregnancies were included.
    We conducted this systematic review and meta-analysis in accordance with the PRISMA guidelines. Statistical analysis was performed using R and Stata software. We used random-effects models to pool each outcome of interest. We performed a meta-regression analysis to explore the potential heterogeneity. The certainty (quality) of evidence assessment was performed using the GRADE approach.
    Nineteen cohort studies were included, involving 4,855,153 participants. From these studies, we identified 28,322 individuals with previous stillbirths who met the eligibility criteria. After adjusting for confounders, evidence of low to moderate certainty indicated that compared with women with previous live births, women with previous stillbirths had higher risks of recurrent stillbirth (odds ratio, 2.68; 95% confidence interval, 2.01-3.56), preterm birth (odds ratio, 3.15; 95% confidence interval, 2.07-4.80), neonatal death (odds ratio, 4.24; 95% confidence interval, 2.65-6.79), small for gestational age/intrauterine growth restriction (odds ratio, 1.3; 95% confidence interval, 1.0-1.8), low birthweight (odds ratio, 3.32; 95% confidence interval, 1.46-7.52), placental abruption (odds ratio, 3.01; 95% confidence interval, 1.01-8.98), instrumental delivery (odds ratio, 2.29; 95% confidence interval, 1.68-3.11), labor induction (odds ratio, 4.09; 95% confidence interval, 1.88-8.88), cesarean delivery (odds ratio, 2.38; 95% confidence interval, 1.20-4.73), elective cesarean delivery (odds ratio, 2.42; 95% confidence interval, 1.82-3.23), and emergency cesarean delivery (odds ratio, 2.35; 95% confidence interval, 1.81-3.06) in subsequent pregnancies, but had a lower rate of spontaneous labor (odds ratio, 0.22; 95% confidence interval, 0.13-0.36). However, there was no association between previous stillbirth and preeclampsia (odds ratio, 1.72; 95% confidence interval, 0.63-4.70) in subsequent pregnancies.
    Our systematic review and meta-analysis provide a more comprehensive understanding of adverse pregnancy outcomes associated with previous stillbirth. These findings could be used to inform counseling for couples who are considering pregnancy after a previous stillbirth.
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  • 文章类型: Review
    背景:根据产前超声检查,单脐动脉可单独存在或与其他胎儿异常相关。到目前为止,膀胱外翻的确切发病机制尚不清楚。一些学者认为,膀胱外翻和泄殖腔外翻应被视为疾病谱,以探讨其发病机理。如果将膀胱外翻和泄殖腔外翻视为相同的疾病谱,那么我们可以推测单脐动脉应该有同时伴有膀胱外翻的概率。
    方法:第一次,我们报道了一例罕见的单脐动脉妊娠胎儿膀胱外翻病例。该患者在怀孕26周时接受了针对性彩色多普勒超声检查,首次怀疑膀胱外翻,单脐动脉和胎儿MRI在怀孕383周时进行诊断,证实了怀疑。确诊后,患者被安排进行多学科讨论.最终,患者选择在怀孕38+5周诱导胎儿死亡,胎儿死亡的身体外观确认了先前的超声和MRI检查结果。
    结论:我们的报告是单胎妊娠中首次发现单脐动脉合并膀胱外翻。因此,我们的病例增强了泄殖腔外翻和膀胱外翻应该被视为相同疾病谱的证据。此外,我们对单脐动脉合并膀胱外翻的诊断进展进行了文献综述,希望能为该病的诊断提供有益的参考。
    BACKGROUND: According to prenatal ultrasonographic studies, single umbilical artery may be present alone or in association with other fetal abnormalities. So far, the exact pathogenesis of bladder exstrophy is unclear. Some scholars believe that bladder exstrophy and cloacal exstrophy should be regarded as a disease spectrum to explore their pathogenesis. If bladder exstrophy and cloacal exstrophy are regarded as the same disease spectrum, then we can speculate that the single umbilical artery should have the probability of being accompanied by bladder exstrophy at the same time.
    METHODS: For the first time, we report a rare case of fetal bladder exstrophy with single umbilical artery in single pregnancy. This patient underwent targeted color Doppler ultrasound at 26 weeks of pregnancy which first suspected bladder exstrophy with single umbilical artery and fetal MRI for diagnosis at 38 + 3 weeks of pregnancy which confirmed the suspicion. After the diagnosis was confirmed, the patient was scheduled for a multidisciplinary discussion. Ultimately the patient opted for induced fetal demise at 38 + 5 weeks of pregnancy and the physical appearance of the fetal demise affirmed previous ultrasound and MRI examination results.
    CONCLUSIONS: Our report is the first finding of single umbilical artery combined with bladder exstrophy in a singleton pregnancy. Accordingly, our case enhances the evidence that cloacal exstrophy and bladder exstrophy should be treated as the same disease spectrum. In addition, we conducted a literature review on the diagnostic progress of single umbilical artery combined with bladder exstrophy, hoping to provide useful references for the diagnosis of this disease.
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  • 文章类型: Case Reports
    自身免疫性先天性心脏传导阻滞(ACHB)是一种被动获得性免疫介导的疾病,其特征是存在针对主要影响心脏传导系统的Ro/SSA和La/SSB核糖核蛋白复合物成分的母体抗体。ACHB发生在2%的抗Ro/SSA和抗La/SSB抗体阳性的女性中,并导致宫内胎儿死亡的高风险,新生儿死亡率,和长期后遗症。在这次审查中,我们首先描述一例ACHB病例,以提供初步知识。然后,我们讨论了ACHB的可能致病机制;总结了抗Ro/SSA和抗La/SSB抗体阳性和/或风湿性疾病患者的妊娠管理,预防ACHB,和ACHB胎儿的治疗;并建议对普通人群进行这些抗体的常规筛查。仔细跟进,包括监测胎儿心率,对于抗Ro/SSA和/或抗La/SSB抗体阳性的孕妇来说,降低胎儿中ACHB的风险是可行的和令人放心的。此外,母体给予羟氯喹可用于预防具有抗Ro/SSA和/或抗La/SSB抗体的孕妇的ACHB.
    Autoimmune congenital heart block (ACHB) is a passively acquired immune-mediated disease characterized by the presence of maternal antibodies against components of the Ro/SSA and La/SSB ribonucleoprotein complex that mainly affects the cardiac conducting system. ACHB occurs in 2% of women with positive anti-Ro/SSA and anti-La/SSB antibodies and causes a high risk of intrauterine fetal death, neonatal mortality, and long-term sequelae. In this review, we first describe a case of ACHB to provide preliminary knowledge. Then, we discuss the possible pathogenic mechanisms of ACHB; summarize the pregnancy management of patients with positive anti-Ro/SSA and anti-La/SSB antibodies and/or rheumatic diseases, the prevention of ACHB, and the treatment of ACHB fetuses; and propose routine screening of these antibodies for the general population. Careful follow-up, which consists of monitoring the fetal heart rate, is feasible and reassuring for pregnant women with positive anti-Ro/SSA and/or anti-La/SSB antibodies to lower the risk of ACHB in fetuses. Moreover, maternal administration of hydroxychloroquine may be useful in preventing ACHB in pregnant women with anti-Ro/SSA and/or anti-La/SSB antibodies.
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  • 文章类型: Journal Article
    最近发现了一种新形式的短暂性产前巴特综合征(aBS),与X连锁MAGED2变体有关。病例报告表明,这种变异导致严重的羊水过多,可能导致早产或妊娠流产。有有限但有希望的证据表明,羊膜减少可能会改善这种罕见情况下的胎儿结局。我们报告一名妇女有两个受影响的怀孕。在第一次怀孕的时候,该患者在妊娠中期被诊断为轻度至中度羊水过多,最终导致早产和25周时分娩,胎儿死亡.羊水样品的全外显子组测序在妊娠丢失后产生,并显示c.1337G>AMAGED2变异,其被认为是诊断性的。绒毛膜绒毛取样证实了随后的妊娠也受到这种变异的影响。通过频繁的超声检查和三次羊膜减少治疗妊娠,导致在37周和6天有活力的新生儿自发阴道分娩,没有明显电解质异常的证据表明完全缓解。提供了已发表的MAGED2相关的短暂性aBS病例的详细综述。我们的审查重点是接受产前治疗的个人。共收集了31例MAGED2相关的短暂性aBS的独特病例。23例进行了羊膜切除术,18例未进行羊膜切除术。在没有连续羊膜减少的情况下,分娩时的平均胎龄显着降低(28.7vs.30.71周,p=0.03)。新生儿死亡率见于5/18例,无连续羊膜减少,在连续羊膜减少的病例中没有观察到死亡。在没有可识别原因的中期妊娠严重羊水过多的情况下,应考虑全外显子组测序.建议对MAGED2相关的短暂性aBS进行强化超声监测和连续羊膜减少。
    A new form of transient antenatal Bartter syndrome (aBS) was recently identified that is associated with the X-linked MAGED2 variant. Case reports demonstrate that this variant leads to severe polyhydramnios that may result in preterm birth or pregnancy loss. There is limited but promising evidence that amnioreductions may improve fetal outcomes in this rare condition. We report a woman with two affected pregnancies. In the first pregnancy, the patient was diagnosed with mild-to-moderate polyhydramnios in the second trimester that ultimately resulted in preterm labor and delivery at 25 weeks with fetal demise. Whole exome sequencing of the amniotic fluid sample resulted after the pregnancy loss and revealed a c.1337G>A MAGED2 variant that was considered diagnostically. The subsequent pregnancy was confirmed by chorionic villi sampling to also be affected by this variant. The pregnancy was managed with frequent ultrasounds and three amnioreductions that resulted in spontaneous vaginal delivery at 37 weeks and 6 days of a viable newborn with no evidence of overt electrolyte abnormalities suggesting complete resolution. A detailed review of the published cases of MAGED2-related transient aBS is provided. Our review focuses on individuals who received antenatal treatment. A total of 31 unique cases of MAGED2-related transient aBS were compiled. Amnioreduction was performed in 23 cases and in 18 cases no amnioreduction was performed. The average gestational age at delivery was significantly lower in cases without serial amnioreduction (28.7 vs. 30.71 weeks, p = 0.03). Neonatal mortality was seen in 5/18 cases without serial amnioreduction, and no mortality was observed in the cases with serial amnioreduction. In cases of second trimester severe polyhydramnios without identifiable cause, whole exome sequencing should be considered. Intensive ultrasound surveillance and serial amnioreduction is recommended for the management of MAGED2-related transient aBS.
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  • 文章类型: Journal Article
    仅撒哈拉以南非洲(SSA)就占2019年全球死产的42%,死产减少的速度仍然缓慢。该地区越来越多地采用基于社区的干预措施来防治死产,但这些干预措施的效果评估不佳.我们的目标是研究基于社区的干预措施对SSA死产的影响。
    在本系统综述和荟萃分析中,我们搜索了八个数据库(MEDLINE[OvidSP],Embase[OvidSP],Cochrane中央控制试验登记册,全球卫生,科学引文索引和社会科学引文索引[WebofScienceCoreCollection],CINAHL[EBSCOhost]和GlobalIndexMedicus)和2000年1月1日至2023年7月7日的四个灰色文献来源,用于SSA的相关研究。基于社区的干预措施仅针对死胎或作为复杂干预措施的一部分,包括有或没有医院干预措施,虽然只有医院干预,小额信贷计划和待产妇家庭干预措施被排除在外.使用Cochrane偏差风险和国家心脏评估研究质量,肺和血液研究所的工具。研究结果是干预与对照社区死产的几率。使用随机效应模型估计集合赔率比(OR),亚组分析按干预类型和策略进行.通过漏斗图和Egger检验评估发表偏倚。这项研究在PROSPERO注册,CRD42021296623。
    在确定的4223条记录中,来自15个SSA国家的17项研究符合纳入条件.一项研究有四个手臂(仅限社区,只有医院,社区和医院,和控制武器),所以从每个手臂提取信息。对17项仅进行社区干预的研究中的13项进行的分析表明,基于社区的干预组和对照组之间的死产几率没有显着差异(OR0.96;95%CI0.78-1.17,I2=57%,p≤0.01,n=63,884)。然而,对包括社区和卫生机构组成部分的四项(五分之四)研究的分析发现,与仅社区干预措施相比,这种组合策略将死产的几率显着降低了17%(OR0.83;95%CI0.79-0.87,I2=11%,p=0.37,n=244,868),在排除具有高偏倚风险的研究后。17项研究的质量被评为差(n=2),一般(n=9)和良好(n=6)。
    仅基于社区的干预措施,如果不提高卫生设施的质量和能力,不太可能对减少SSA的死胎产生实质性影响。
    纳菲尔德人口卫生部,Balliol学院,克拉伦登基金,医学研究理事会。
    UNASSIGNED: Sub-Saharan Africa (SSA) alone contributed to 42% of global stillbirths in 2019, and the rate of stillbirth reduction has remained slow. There has been an increased uptake of community-based interventions to combat stillbirth in the region, but the effects of these interventions have been poorly assessed. Our objectives were to examine the effect of community-based interventions on stillbirth in SSA.
    UNASSIGNED: In this systematic review and meta-analysis, we searched eight databases (MEDLINE [OvidSP], Embase [OvidSP], Cochrane Central Register of Controlled Trials, Global Health, Science Citation Index and Social Science Citation index [Web of Science Core Collection], CINAHL [EBSCOhost] and Global Index Medicus) and four grey literature sources from January 1, 2000 to July 7, 2023 for relevant studies from SSA. Community-based interventions targeting stillbirths solely or as part of complex interventions, with or without hospital interventions were included, while hospital-only interventions, microcredit schemes and maternity waiting home interventions were excluded. Study quality was assessed using the Cochrane risk of bias and National Heart, Lung and Blood Institute\'s tools. The study outcome was odds of stillbirth in intervention versus control communities. Pooled odds ratios (ORs) were estimated using random-effects models, and subgroup analyses were performed by intervention type and strategies. Publication bias was evaluated by funnel plot and Egger\'s test. This study is registered with PROSPERO, CRD42021296623.
    UNASSIGNED: Of the 4223 records identified, seventeen studies from fifteen SSA countries were eligible for inclusion. One study had four arms (community only, hospital only, community and hospital, and control arms), so information was extracted from each arm. Analysis of 13 of the 17 studies which had community-only intervention showed that the odds of stillbirth did not vary significantly between community-based intervention and control groups (OR 0.96; 95% CI 0.78-1.17, I2 = 57%, p ≤ 0.01, n = 63,884). However, analysis of four (out of five) studies that included both community and health facility components found that in comparison with community only interventions, this combination strategy significantly reduced the odds of stillbirth by 17% (OR 0.83; 95% CI 0.79-0.87, I2 = 11%, p = 0.37, n = 244,868), after excluding a study with high risk of bias. The quality of the 17 studies were graded as poor (n = 2), fair (n = 9) and good (n = 6).
    UNASSIGNED: Community-based interventions alone, without strengthening the quality and capacity of health facilities, are unlikely to have a substantial effect on reducing stillbirths in SSA.
    UNASSIGNED: Nuffield Department of Population Health, Balliol College, the Clarendon Fund, Medical Research Council.
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