fetus

胎儿
  • 文章类型: Journal Article
    胎儿结构异常和出生缺陷主要由染色体数目异常等遗传变异引起,拷贝数变异(CNV),单核苷酸变异(SNV),和小插入和删除(indel)。基于下一代测序(NGS)的全基因组测序(WGS)作为一种新兴的遗传病诊断技术,可以检测上述类型的变异。近年来,用于产前诊断的深度WGS(>30×)也已可用,并被证明适用于揭示胎儿发育异常的遗传病因。为了促进临床实践,用于诊断胎儿结构异常的WGS的测试开发和初步实施,我们通过汇编先前发表的共识,就WGS在产前诊断中的应用达成了共识,指导方针,和研究结果,为数据分析提供指导,报告建议,和产前WGS结果咨询。
    Fetal structural anomalies and birth defects are primarily caused by genetic variants such as chromosomal number abnormalities, copy number variations (CNV), single nucleotide variants (SNV), and small insertions and deletions (indel). Whole-genome sequencing (WGS) based on next-generation sequencing (NGS) as an emerging technology for genetic disease diagnosis can detect the aforementioned types of variants. In recent years, high-depth WGS (> 30×) for prenatal diagnosis has also become available, and proved to be practical for unraveling the genetic etiology of fetal developmental abnormalities. To facilitate clinical practice, test development and preliminary implementation of WGS for diagnosing fetal structural anomalies, we have formulated a consensus over the application of WGS in prenatal diagnosis by compiling previously published consensuses, guidelines, and research findings to provide a guidance on data analysis, reporting recommendations, and consultation of prenatal WGS results.
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  • 文章类型: Journal Article
    人胎儿大脑皮层的皮质壁(孕中期早期的突触标记[红色]免疫染色)揭示了亚板的范围,在这个发育阶段,它比皮质板宽得多。
    Cortical wall of human fetal cerebral cortex (early second trimester immunostained for a synaptic marker [red]) revealing the extent of the subplate, which is considerably wider than the cortical plate at this developmental stage.
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  • 文章类型: Journal Article
    目的:就臀位表现和护理方面达成共识。
    方法:一家跨国公司,三轮e-Delphi研究。
    方法:由15名助产士组成的小组,四名产科医生和一名具有护理臀位胎儿妇女的知识和/或经验的学者。
    方法:对45个开放式问题的初步调查。答案被编码和合并,在第二轮中形成448个陈述,在第三轮中形成三个额外的陈述。小组成员被要求使用5点Likert量表提供他们对每项声明的同意程度。如果70%的小组成员强烈同意某些同意,则认为达成了共识,或强烈不同意在第二轮后有些不同意。
    结果:结果为臀位胎儿妇女开发了基于共识的护理途径,并为临床医生开发了技能开发框架。
    结论:通过提供各种组织提供的生理臀位研讨会,开始发生文化转变,并可能导致希望阴道臀位分娩的妇女更多地接触熟练和经验丰富的临床医生,最终提高臀位分娩的安全性。
    希望改变其当前与臀位演示相关的实践并提高其劳动力技能水平的服务可以使用护理途径和技能开发框架。
    OBJECTIVE: To establish consensus related to aspects of breech presentation and care.
    METHODS: A multinational, three round e-Delphi study.
    METHODS: A panel of 15 midwives, four obstetricians and an academic with knowledge and/or experience of caring for women with a breech presenting fetus.
    METHODS: An initial survey of 45 open-ended questions. Answers were coded and amalgamated to form 448 statements in the second round and three additional statements in the third round. Panellists were asked to provide their level of agreement for each statement using a 5-point Likert scale. Consensus was deemed met if 70% of panellists responded with strongly agree to somewhat agree, or strongly disagree to somewhat disagree after the second round.
    RESULTS: Results led to the development of a consensus-based care pathway for women with a breech presenting fetus and a skills development framework for clinicians.
    CONCLUSIONS: A cultural shift is beginning to occur through the provision of physiological breech workshops offered by various organisations and may result in greater access to skilled and experienced clinicians for women desiring a vaginal breech birth, ultimately improving the safety of breech birth.
    UNASSIGNED: The care pathway and skills development framework can be used by services wishing to make changes to their current practices related to breech presentation and increase the level of skill in their workforce.
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  • 文章类型: Review
    妊娠是一种以多种生理变化为标志的动态状态。怀孕期间的口腔保健经常被避免和误解,在此期间,医疗保健专业人员正在努力解释牙科治疗的安全性和适当性。尽管国际准则和共识报告表明,预防性和恢复性牙科治疗是安全和必要的,巴基斯坦的医疗保健专业人员和普通民众仍然普遍认为,怀孕期间的牙科治疗可能会对胎儿造成损害。在过去的三十年里,随着人类对牙周病背后的生物学知识的扩展,更好地理解其对各种生理状态的系统性影响,并制定相应的管理方案。牙医对常规牙科治疗的时机缺乏了解,需要解决避免某些药物治疗和对怀孕患者牙周组织的临床变化了解不足的问题,以便提供及时的治疗。计划进行当前的叙述审查,以强调怀孕患者口腔中可能发生的生理和病理变化。
    Pregnancy is a dynamic state marked by several physiological changes. Oral healthcare in pregnancy is often avoided and misunderstood, with healthcare professionals struggling to interpret the safety and appropriateness of dental treatment during this period. Despite international guidelines and consensus reports indicating that preventive and restorative dental treatment are safe and essential, there is still a widespread belief among healthcare professionals and general population in Pakistan that dental treatment during pregnancy may pose damage to the foetus. Over the past three decades, as human knowledge of the biology behind periodontal diseases broadened, its systemic impact upon various physiological states is better understood and management protocols are accordingly formulated. Lack of knowledge among dentists regarding the timing of routine dental treatment, avoidance of certain medications and poor understanding of the clinical changes in the periodontium of the pregnant patient needs to be addressed so that timely treatment is provided. The current narrative review was planned to highlight the physiological and pathological changes that may occur in the oral cavity of a pregnant patient.
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  • 文章类型: Journal Article
    背景:先前的研究努力检查临床特征之间的关联,超声指数,由于对胎儿生长受限的定义缺乏共识,因此阻碍了妊娠不良围产期结局的风险。2016年,一个国际专家小组通过德尔菲程序达成了共识定义,但就目前而言,这并没有得到所有专业组织的认可。
    目的:本研究旨在评估在不符合生长受限的共识标准时,估计胎儿体重和/或腹围<10百分位数与不良围产期结局之间是否存在独立关联。
    方法:数据来自单一学术三级护理机构(2010-2022年)的单胎非异常妊娠被动前瞻性队列,分为三组:(1)符合Delphi胎儿生长受限标准的连续胎儿,(2)未达到共识标准的小胎龄胎儿,和(3)出生体重为20至80百分位的胎儿随机选择为适当生长(适合胎龄)的比较组。这项巢式病例对照研究使用1:1倾向评分匹配来调整3组之间的混杂因素:胎儿生长受限病例,小于胎龄儿,和控制。我们的主要结果是复合:围产期死亡,5分钟Apgar评分<7,帘线pH≤7.10,或碱过量≥12。单变量分析中P值<.2的妊娠特征与胎儿生长受限和小于胎龄一起被考虑纳入多变量模型,以评估哪些结局是不良围产期结局的独立预测因素。
    结果:总体而言,2866例怀孕符合纳入标准。在倾向得分匹配后,有2186对配对,包括511(23%),1093(50%),582例(27%)胎龄小的患者,适合胎龄,和胎儿生长受限组,分别。此外,210例(10%)妊娠因不良围产期结局而复杂化。胎龄小或胎龄合适的孕妇均未导致围产期死亡。根据5分钟Apgar评分和/或脐带气体结果,小胎龄组的511例患者中有23例(5%)出现不良结局,而适当胎龄组的1093例患者中有77例(7%)(优势比,0.62;95%置信区间,0.39-1.00)。此外,符合共识标准的582例胎儿生长受限患者中有110例(19%)出现不良结局(比值比,3.08;95%置信区间,2.25-4.20),其中34例围生儿死亡或出院前死亡。与不良结局几率增加独立相关的因素包括慢性高血压,妊娠高血压疾病,和早发性胎儿生长受限。在对预测不良围产期结局的模型中包含的6个其他因素进行校正后,胎龄小与主要结局无关。模型的受试者工作特征曲线下的偏差校正自举面积为0.72(95%置信区间,0.66-0.74)。预测不良围产期结局的7因素模型的受试者工作特征曲线下的偏差校正自举面积为0.72(95%置信区间,0.66-0.74)。
    结论:这项研究没有发现证据表明,估计胎儿体重和/或腹围为第3至第9百分位数的胎儿不符合胎儿生长受限的共识标准(基于多普勒波形和/或生长速度≥32周),其不良结局的风险增加。尽管应该密切监测这些胎儿的生长,以排除不断发展的生长限制,大多数病例是健康的小胎儿。以与怀疑有病理生长受限的胎儿相同的方式管理这些胎儿可能导致不必要的产前检查,并增加因早产或早期分娩小胎儿而导致医源性并发症的风险,这些胎儿的不良围产期结局的风险相对较低。
    Previous research endeavors examining the association between clinical characteristics, sonographic indices, and the risk of adverse perinatal outcomes in pregnancies complicated by fetal growth restriction have been hampered by a lack of agreement regarding its definition. In 2016, a consensus definition was reached by an international panel of experts via the Delphi procedure, but as it currently stands, this has not been endorsed by all professional organizations.
    This study aimed to assess whether an independent association exists between estimated fetal weight and/or abdominal circumference of <10th percentile and adverse perinatal outcomes when consensus criteria for growth restriction are not met.
    Data were derived from a passive prospective cohort of singleton nonanomalous pregnancies at a single academic tertiary care institution (2010-2022) that fell into 3 groups: (1) consecutive fetuses that met the Delphi criteria for fetal growth restriction, (2) small-for-gestational-age fetuses that failed to meet the consensus criteria, and (3) fetuses with birthweights of 20th to 80th percentile randomly selected as an appropriately grown (appropriate-for-gestational-age) comparator group. This nested case-control study used 1:1 propensity score matching to adjust for confounders among the 3 groups: fetal growth restriction cases, small-for-gestational-age cases, and controls. Our primary outcome was a composite: perinatal demise, 5-minute Apgar score of <7, cord pH of ≤7.10, or base excess of ≥12. Pregnancy characteristics with a P value of <.2 on univariate analyses were considered for incorporation into a multivariable model along with fetal growth restriction and small-for-gestational-age to evaluate which outcomes were independently predictive of adverse perinatal outcomes.
    Overall, 2866 pregnancies met the inclusion criteria. After propensity score matching, there were 2186 matched pairs, including 511 (23%), 1093 (50%), and 582 (27%) patients in the small-for-gestational-age, appropriate-for-gestational-age, and fetal growth restriction groups, respectively. Moreover, 210 pregnancies (10%) were complicated by adverse perinatal outcomes. None of the pregnancies with small-for-gestational-age OR appropriate-for-gestational-age fetuses resulted in perinatal demise. Twenty-three of 511 patients (5%) in the small-for-gestational-age group had adverse outcomes based on 5-minute Apgar scores and/or cord gas results compared with 77 of 1093 patients (7%) in the appropriate-for-gestational-age group (odds ratio, 0.62; 95% confidence interval, 0.39-1.00). Furthermore, 110 of 582 patients (19%) with fetal growth restriction that met the consensus criteria had adverse outcomes (odds ratio, 3.08; 95% confidence interval, 2.25-4.20), including 34 patients with perinatal demise or death before discharge. Factors independently associated with increased odds of adverse outcomes included chronic hypertension, hypertensive disorders of pregnancy, and early-onset fetal growth restriction. Small-for-gestational age was not associated with the primary outcome after adjustment for 6 other factors included in a model predicting adverse perinatal outcomes. The bias-corrected bootstrapped area under the receiver operating characteristic curve for the model was 0.72 (95% confidence interval, 0.66-0.74). The bias-corrected bootstrapped area under the receiver operating characteristic curve for a 7-factor model predicting adverse perinatal outcomes was 0.72 (95% confidence interval, 0.66-0.74).
    This study found no evidence that fetuses with an estimated fetal weight and/or abdominal circumference of 3rd to 9th percentile that fail to meet the consensus criteria for fetal growth restriction (based on Doppler waveforms and/or growth velocity of ≥32 weeks) are at increased risk of adverse outcomes. Although the growth of these fetuses should be monitored closely to rule out evolving growth restriction, most cases are healthy constitutionally small fetuses. The management of these fetuses in the same manner as those with suspected pathologic growth restriction may result in unnecessary antenatal testing and increase the risk of iatrogenic complications resulting from preterm or early term delivery of small fetuses that are at relatively low risk of adverse perinatal outcomes.
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  • 文章类型: Practice Guideline
    目的:总结现有证据,对产前胎儿健康监测(FHS)提出建议,以发现围产期危险因素和潜在的胎儿代偿失调,及时进行干预,预防围产期发病和/或死亡。
    方法:有或没有母亲的孕妇,胎儿,或产前胎儿代偿失调的妊娠相关围产期危险因素。
    方法:要使用基本和/或高级产前检查方式,基于潜在胎儿代偿失调的危险因素。
    结果:早期发现潜在的胎儿代偿失调,可以采取干预措施,支持胎儿适应以维持健康或加快分娩。
    结果:具有确定的围产期危险因素的孕妇的产前FHS可能会减少不良结局的机会。鉴于高的假阳性率,FHS可能会增加不必要的干预措施,这可能会导致伤害,包括父母的焦虑,早产或手术分娩,和增加使用卫生保健资源。基于循证实践的监测方案的优化可以改善围产期结局并减少伤害。
    方法:Medline,PubMed,Embase,从开始到2022年1月,使用医学主题词(MeSH)和与怀孕相关的关键词搜索了Cochrane图书馆,胎儿监护,胎动,死产,妊娠并发症,还有胎儿超声检查.本文件是对证据的抽象,而不是方法学审查。
    方法:作者使用建议分级评估对证据质量和建议强度进行了评估,开发和评估(等级)方法。见在线附录A(表A1的定义和A2的强和弱的建议的解释)。
    所有为产科患者提供护理或教育的医疗保健团队成员,包括母体胎儿医学专家,产科医生,家庭医生,助产士,护士,执业护士,和放射科医生。
    结论:建议。
    To summarize the current evidence and to make recommendations for antenatal fetal health surveillance (FHS) to detect perinatal risk factors and potential fetal decompensation in the antenatal period and to allow for timely intervention to prevent perinatal morbidity and/or mortality.
    Pregnant individuals with or without maternal, fetal, or pregnancy-associated perinatal risk factors for antenatal fetal decompensation.
    To use basic and/or advanced antenatal testing modalities, based on risk factors for potential fetal decompensation.
    Early identification of potential fetal decompensation allows for interventions that may support fetal adaptation to maintain well-being or expedite delivery.
    Antenatal FHS in pregnant individuals with identified perinatal risk factors may reduce the chance of adverse outcomes. Given the high false-positive rate, FHS may increase unnecessary interventions, which may result in harm, including parental anxiety, premature or operative birth, and increased use of health care resources. Optimization of surveillance protocols based on evidence-informed practice may improve perinatal outcomes and reduce harm.
    Medline, PubMed, Embase, and the Cochrane Library were searched from inception to January 2022, using medical subject headings (MeSH) and key words related to pregnancy, fetal monitoring, fetal movement, stillbirth, pregnancy complications, and fetal sonography. This document represents an abstraction of the evidence rather than a methodological review.
    The authors rated the quality of evidence and strength of recommendations using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. See online Appendix A (Tables A1 for definitions and A2 for interpretations of strong and weak recommendations).
    All health care team members who provide care for or education to obstetrical patients, including maternal fetal medicine specialists, obstetricians, family physicians, midwives, nurses, nurse practitioners, and radiologists.
    RECOMMENDATIONS.
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  • 文章类型: Review
    孕妇的药代动力学(PK)研究,产后,母乳喂养的人对告知适当的药物使用和剂量至关重要。将这些复杂人群的PK结果转化为临床实践的关键组成部分涉及指南小组对数据的系统审查和解释。由临床医生组成,科学家,和社区成员,利用现有数据,由临床医生和患者做出明智的决策,并提供临床最佳实践。对妊娠PK数据的解释涉及多个因素的评估,例如研究设计,目标人群,以及执行的采样类型。评估胎儿和婴儿在子宫内或母乳喂养期间的药物暴露,分别,对于告知哺乳期患者在怀孕期间和整个产后使用药物是否安全也至关重要。这篇综述将概述这一翻译过程,讨论准则小组考虑的各种因素,以及实施某些建议的实际方面,以HIV领域为例。
    Pharmacokinetic (PK) studies in pregnant, postpartum, and breastfeeding people are critical to informing appropriate medication use and dosing. A key component of translating PK results in these complex populations into clinical practice involves the systematic review and interpretation of data by guideline panels, composed of clinicians, scientists, and community members, to leverage available data for informed decision making by clinicians and patients and offer clinical best practices. Interpretation of PK data in pregnancy involves evaluation of multiple factors such as the study design, target population, and type of sampling performed. Assessments of fetal and infant drug exposure while in utero or during breastfeeding, respectively, are also critical for informing whether medications are safe to use during pregnancy and throughout postpartum in lactating people. This review will provide an overview of this translational process, discussion of the various factors considered by guideline panels, and practical aspects of implementing certain recommendations, using the HIV field as an example.
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  • 文章类型: Letter
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  • 文章类型: Practice Guideline
    目的:总结目前的证据,并为血管前置的诊断和分类以及有此诊断的女性的管理提供建议。
    方法:患有前置血管或低洼胎儿血管的孕妇。
    方法:要在医院或家中管理前置血管,并在早产或足月进行剖宫产,或在怀疑或确认诊断为血管前置或低洼的胎儿血管时,允许进行分娩试验。
    结果:住院时间延长,早产,剖宫产率,以及新生儿发病率和死亡率。
    结果:患有前置血管或低洼胎儿血管的女性发生母胎或产后不良结局的风险增加。这些结果包括潜在的错误诊断,需要住院治疗,不必要的活动限制,提前交货,和不必要的剖腹产。优化诊断和管理方案可以改善母体和胎儿或产后结局。
    方法:Medline,Pubmed,Embase,和Cochrane图书馆从开始到2022年3月进行搜索,使用医学主题词(MeSH)和与怀孕相关的关键词,VasaPrevia,低洼的胎儿血管,产前出血,宫颈短,早产,和剖腹产。本文件对证据进行了抽象,而不是方法上的审查。
    方法:作者使用建议分级评估对证据质量和建议强度进行了评估,开发和评估(等级)方法。见在线附录A(表A1的定义和A2的强和弱的建议的解释)。
    产科护理提供者,包括产科医生,家庭医生,护士,助产士,母胎医学专家,和放射科医生。
    结论:胎盘膜和脐带靠近子宫颈的无保护胎儿血管,包括VasaPrevia,需要通过超声检查和循证管理进行仔细的表征,以减少怀孕和分娩期间婴儿和母亲的风险。
    To summarize the current evidence and to make recommendations for diagnosis and classification of vasa previa and for management of women with this diagnosis.
    Pregnant women with vasa previa or low-lying fetal vessels.
    To manage vasa previa in hospital or at home, and to perform a cesarean delivery preterm or at term, or to allow a trial of labour when a diagnosis of vasa previa or low-lying fetal vessels is suspected or confirmed.
    Prolonged hospitalization, preterm birth, rate of cesarean delivery, and neonatal morbidity and mortality.
    Women with vasa previa or low-lying fetal vessels are at an increased risk of maternal and fetal or postnatal adverse outcomes. These outcomes include a potentially incorrect diagnosis, need for hospitalization, unnecessary restriction of activities, an early delivery, and an unnecessary cesarean delivery. Optimization of diagnostic and management protocols can improve maternal and fetal or postnatal outcomes.
    Medline, Pubmed, Embase, and the Cochrane Library were searched from inception to March 2022, using medical subject headings (MeSH) and keywords related to pregnancy, vasa previa, low-lying fetal vessels, antepartum hemorrhage, short cervix, preterm labour, and cesarean delivery. This document presents an abstraction of the evidence rather than a methodological review.
    The authors rated the quality of evidence and strength of recommendations using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. See online Appendix A (Tables A1 for definitions and A2 for interpretations of strong and weak recommendations).
    Obstetric care providers, including obstetricians, family physicians, nurses, midwives, maternal-fetal medicine specialists, and radiologists.
    Unprotected fetal vessels in placental membranes and cord that are close to the cervix, including vasa previa, need careful characterization by sonographic examination and evidence-based management to reduce risks to the baby and the mother during pregnancy and delivery.
    RECOMMENDATIONS.
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  • 文章类型: Journal Article
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