foetal

胎儿
  • 文章类型: Journal Article
    目的:由于治疗方法的改进,囊性纤维化(CF)患者的寿命更长,更健康,例如囊性纤维化跨膜传导调节因子(CFTR)调节疗法elexacaftor/tezacaftor/ivacaftor(ETI),治疗可能发生在怀孕期间。ETI对胎儿的风险仍然未知。因此,研究了母亲施用的ETI对胎儿遗传和结构发育的影响。
    方法:从E12到E19,口服ETI(6.7mg·kg-1·day-1elexacaftor3.5mg·kg-1·day-1tezacaftor25mg·kg-1·day-1ivacaftor)7天。使用组织学和RNA测序分析在E19收集的组织样品。评估组织学变化和差异表达基因(DEG)。
    结果:在胎儿胰腺中没有发现明显的结构异常,肝脏,ETI暴露7天后的肺和小肠。胎儿肝脏中很少有非功能相关的DEG,使用RNA-seq鉴定肺和小肠。在胸腺中鉴定出29°(27个上调,2个下调),并且大多数在功能上相互关联。基因本体论富集分析显示多个肌肉相关术语显著富集。在皮质中发现了更多的DEG(44个上调,4个下调),其中一组与中枢神经系统和大脑发育有关。
    结论:妊娠晚期亚慢性ETI治疗似乎不会对许多胎儿组织的遗传和结构发育构成重大风险。然而,胎儿胸腺肌样细胞和皮质神经元发育的显著基因变化需要未来的随访研究来评估这些器官的风险.
    OBJECTIVE: Cystic fibrosis (CF) patients are living longer and healthier due to improved treatments, e.g. cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy elexacaftor/tezacaftor/ivacaftor (ETI), with treatment possibly occurring in pregnancy. The risk of ETI to foetuses remain unknown. Thus the effect of maternally administered ETI on foetal genetic and structural development was investigated.
    METHODS: Pregnant Sprague Dawley rats were orally treated with ETI (6.7 mg·kg-1·day-1 elexacaftor + 3.5 mg·kg-1·day-1 tezacaftor + 25 mg·kg-1·day-1 ivacaftor) for 7 days from E12 to E19. Tissue samples collected at E19 were analysed using histology and RNA sequencing. Histological changes and differentially expressed genes (DEG) were assessed.
    RESULTS: No overt structural abnormalities were found in foetal pancreas, liver, lung and small intestine after 7-day ETI exposure. Very few non-functionally associated DEG in foetal liver, lung and small intestine were identified using RNA-seq. 29 DEG were identified in thymus (27 up-regulated and two down-regulated) and most were functionally linked to each other. Gene ontology enrichment analysis revealed that multiple muscle-related terms were significantly enriched. Many more DEG were identified in cortex (44 up-regulated and four down-regulated) and a group of these were involved in central nervous system and brain development.
    CONCLUSIONS: Sub-chronic ETI treatment in late pregnancy does not appear to pose a significant risk to the genetic and structural development of many foetal tissues. However, significant gene changes in foetal thymic myoid cells and cortical neuronal development requires future follow-up studies to assess the risk to these organs.
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  • 文章类型: Journal Article
    妊娠中的甲型流感病毒(IAV)感染类似于以血管功能障碍和胎儿生长迟缓为特征的先兆子痫表型。鉴于低剂量阿司匹林(ASA)在怀孕期间是安全的,并且用于预防先兆子痫,我们调查了ASA或NO结合的阿司匹林,NCX4016,解决血管炎症和功能,以改善怀孕小鼠IAV感染后的后代结果。妊娠小鼠用小鼠适应的IAV菌株(Hkx31;104菌斑形成单位)鼻内感染,并通过口服管饲法接受每日200μg/kgASA或NCX4016治疗。然后剔除小鼠,收集母体肺和主动脉进行qPCR分析,并对主动脉环进行了线肌电图,以评估内皮和血管平滑肌的功能.称重幼犬和胎盘,并评估幼犬的生长速度和存活率。IAV感染的小鼠在主动脉中对ACh的内皮依赖性舒张反应受损,ASA和NCX4016治疗可以预防。ASA和NCX4016治疗可预防IAV播散和主动脉炎症,并改善子宫内幼仔胎盘比例,出生后第5天的存活率和生长率。低剂量ASA在妊娠期间用于先兆子痫是安全的,这项研究表明,ASA可能是避免妊娠期间与流感感染相关的重大血管并发症的有希望的治疗方法。
    Influenza A virus (IAV) infection in pregnancy resembles a preeclamptic phenotype characterised by vascular dysfunction and foetal growth retardation. Given that low dose aspirin (ASA) is safe in pregnancy and is used to prevent preeclampsia, we investigated whether ASA or NO-conjugated aspirin, NCX4016, resolve vascular inflammation and function to improve offspring outcomes following IAV infection in pregnant mice. Pregnant mice were intranasally infected with a mouse adapted IAV strain (Hkx31; 104 plaque forming units) and received daily treatments with either 200µg/kg ASA or NCX4016 via oral gavage. Mice were then culled and the maternal lungs and aortas collected for qPCR analysis, and wire myography was performed on aortic rings to assess endothelial and vascular smooth muscle functionality. Pup and placentas were weighed and pup growth rates and survival assessed. IAV infected mice had an impaired endothelial dependent relaxation response to ACh in the aorta, which was prevented by ASA and NCX4016 treatment. ASA and NCX4016 treatment prevented IAV dissemination and inflammation of the aorta as well as improving the pup placental ratios in utero, survival and growth rates at post-natal day 5. Low dose ASA is safe to use during pregnancy for preeclampsia and this study demonstrates that ASA may prove a promising treatment for averting the significant vascular complications associated with influenza infection during pregnancy.
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  • 文章类型: Case Reports
    近年来,胃裂病有所增加,然而,复杂的腹裂与较高的死亡率有关,以及短期和长期并发症导致的更高的医疗保健成本和疾病负担。
    一名25岁的女性在妊娠37+1周(第2次妊娠;第0次妊娠)时,因胎儿胃裂入院。在我院进行的靶向四元超声检查显示,腹壁连续中断34mm,观察到范围约为88×50毫米的肠回声向外凸出,靠近肠壁的局部区域显示出34×23米的回声,胎儿比预期小2周。在包括母婴医学在内的MDT之后,超声,儿科手术,新生儿重症监护病房(NICU),和麻醉科,剖腹产在37+2周。生了一个男婴,小肠,腹部外可见大肠和胃,从脐带右侧的缺损中排除了腹腔,肠系膜缩短了,经儿科手术讨论,肠管有明显的水肿,进行筒仓袋放置和延迟关闭,放置过程很顺利。竖井放置一周后,每天内脏部分减少后,腹部内容物已经完全减少到筋膜以下,第二阶段的手术是在全身麻醉下进行的。新生儿在手术后20天顺利出院,并进行了随访,随着良好的增长,正常的牛奶摄入量和平稳的排便。
    复杂胃裂的诊断和治疗需要在多学科小组治疗下进行。37周后剖宫产分娩是可行的。立即进行产后手术是可能的,手术方式的选择取决于孩子的病情,强调在麻醉下应在没有足够镇静的情况下进行。应制定适合风险的标准化术后护理路径,以优化营养支持和抗生素使用。应寻求长期随访的标准化肠内喂养方法。
    UNASSIGNED: Gastroschisis has increased in recent years, however, complicated gastroschisis is associated with higher mortality, as well as higher health care costs and disease burdens from short- and long-term complications.
    UNASSIGNED: A woman aged 25 years old at 37 + 1 weeks gestation (gravida 2; para 0) was admitted to the hospital because of foetal gastroschisis. Targeted quaternary ultrasound performed at our hospital showed that 34 mm of the abdominal wall was interrupted continuously, an intestinal echo with a range of approximately 88 × 50 mm was seen bulging outwards the local area close to the intestinal wall showed a 34 × 23 m anecho, and the foetus was measuring 2 weeks smaller than expected. After MDT including the maternal-foetal medicine, ultrasound, paediatric surgery, neonatal intensive care unit (NICU), and anaesthesiology departments, caesarean section was performed at 37 + 2 weeks. A baby boy was delivered, the small intestine, large intestine and stomach were seen outside of the abdomen, the abdominal cavity was excluded from the defect on the right side of the umbilical cord, the mesentery was shortened, and the intestinal tube had obvious oedema After paediatric surgical discussion, silo bag placement and delayed closure was performed, the placement process was smooth. One week following silo placement, the abdominal contents had been fully reduced below the fascia following daily partial reductions of the viscera,and the second stage of the operation was performed under general anaesthesia. The newborn was successfully discharged from the hospital 20 days after the operation and was followed up, with good growth, normal milk intake and smooth bowel movements.
    UNASSIGNED: The diagnosis and treatment of complicated gastroschisis needs to be carried out under multidisciplinary team treatment. Delivery by cesarean section after 37 weeks is feasible.Immediate postpartum surgery is possible, and the choice of surgical modality is determined by the child\'s condition, emphasizing that it should be performed without adequate sedation under anaesthesia. A standardized postoperative care pathway appropriate to risk should be developed to optimize nutritional support and antibiotic use, and standardized enteral feeding practices should be sought with long-term follow-up.
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  • 文章类型: Journal Article
    背景:雄性和雌性食用动物都被宰杀。一些奶牛,母羊和被屠宰的母羊被发现有可行的胎儿,导致胎儿浪费和未来替代库存的损失。胎儿浪费约占撒哈拉以南非洲牲畜数量下降的20%-25%。屠杀怀孕的奶牛,母羊和母羊确实造成了经济损失,并威胁到粮食安全,从而减少了快速增长的人口可用的动物蛋白。在包括乌干达在内的大多数发展中国家,健康人类发育的蛋白质需求不足。在屠宰场中评估了与胎儿浪费相关的患病率和经济损失。
    目的:本研究的目的是评估研究屠宰场浪费的发生率,并估计相关的经济损失。
    方法:在屠宰场居民肉类检查员的支持下,研究人员在研究期间检查了所有屠宰的雌性动物。用锋利的刀穿过长轴,将尸体换药后从屠宰的动物中获得的妊娠子宫取出内脏,以恢复胎儿。使用卷尺测量回收的胎儿的冠部臀部长度(CRL),称重并归类为第一,第二和第三个三个月。通过计算怀孕动物占屠宰雌性动物总数的百分比来确定屠宰的怀孕动物的患病率。经济损失是根据出生时的货币损失估计的,断奶,成熟,断奶和成熟时的car体损失。
    结果:总屠宰量为牛604(73.6%),山羊169(20.6%)和绵羊48(5.9%)。胎儿浪费的总体患病率为21.9%。按物种划分的胎儿浪费总数包括160头(88.9%)头奶牛,8头(4.4%)小母牛,4只(2.2%)和8只(4.4%)母羊。按三个月计算,奶牛的胎儿浪费包括62只(38.8%),26(16.25%)和72(45.0%),第二和第三个三个月,分别,转换为13,055美元的损失。胎儿浪费很高,相关的经济损失也很大,这破坏了国家牛群的可持续性。农民应注意与胎儿浪费相关的经济损失和长期影响,并劝阻这种做法。需要一项政策来阻止农民出售怀孕的动物进行屠宰。
    结论:总共168头牛,在60天的研究期内浪费了8只山羊和12只绵羊胎儿。这些胎儿浪费在出生时转化为13,224美元的货币损失,断奶时货币损失31,849美元,到期时货币损失57,0896美元。
    Both male and female food animals are slaughtered for meat. Some cows, ewes and does  slaughtered are found with viable foetuses resulting in foetal wastage and loss of future replacement stock. Foetal wastage accounts for about 20%-25% of the decline in livestock numbers in sub-Saharan Africa. Slaughter of pregnant cows, ewes and does results in economic losses and threatens food security with consequent decrease in available animal proteins to the fast growing human population. Protein requirement for healthy human development is inadequate in most developing countries including Uganda. The prevalence and economic losses associated with foetal wastage were assessed in an abattoir.
    The study was cnducted to assess the prevalence of feotal wastage at the study abattoir and estimate the associated economic losses.
    The researchers supported by abattoir resident meat inspectors examined all slaughtered female animals during the study period. Gravid uteri obtained from slaughtered animals after dressing of carcasses were eviscerated using a sharp knife across the long axis to recover foetuses. The crown rump lengths (CRLs) of the recovered foetuses were measured using a tape measure, weighed on a scale and categorised into first, second and third trimesters. Prevalence of pregnant animals slaughtered was determined by calculating the percentage of pregnant animals over the total number of female animals slaughtered. Economic losses were estimated based on the monetary losses at birth, weaning, maturity, and carcass loss at weaning and maturity.
    The aggregate slaughters were bovine 604 (73.6%), caprine 169 (20.6%) and ovine 48 (5.9%). The overall prevalence of foetal wastage was 21.9%. The aggregate prevalence of foetal wastage by species include 160 (88.9%) cows, 8 (4.4%) heifers, 4 (2.2%) does and 8 (4.4%) ewes. Foetal wastage of cows by trimester included 62 (38.8%), 26 (16.25%) and 72 (45.0%) in first, second and third trimesters, respectively, translating into loss of US$13,055. Foetal wastage was high and the associated economic losses were substantial which undermines sustainability of the national herd. Farmers should be sensitised about the economic losses and long-term impact associated with foetal wastage and dissuaded from this practice. A policy is needed to deter farmers from selling pregnant animals for slaughter.
    A total of 168 bovine, 8 caprine and 12 ovine foetuses were wasted within 60 days study period. These foetal wastages translated to US$ 13,224 monetary losses at birth, US$ 31,849 monetary loss at weaning and US$ 57,0896 monetary loss at maturity.
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  • 文章类型: Journal Article
    目的:低出生体重是一种常见的妊娠并发症,这与晚年心脏代谢疾病的高风险有关。先前的孟德尔随机化(MR)研究探索这个问题没有区分通过胎儿基因组直接影响出生体重的变异的机制贡献(直接胎儿效应),vs.通过引起不良宫内环境(间接母体影响)间接影响出生体重的变异。在这项研究中,MR用于评估出生体重,独立于子宫内的影响,与心血管疾病风险以及不良心脏结构和功能的测量相关。
    方法:不相关(r2<.001),从全基因组关联研究中提取全基因组显著(P<5×10-8)单核苷酸多态性,并且仅在隔离胎儿的直接影响之后。反方差加权MR用于分析心房颤动的结果,冠状动脉疾病,心力衰竭,缺血性中风,心脏结构和功能的16项测量。Benjamini-Hochberg校正解释了多重比较。
    结果:基因预测的出生体重较低,仅隔离胎儿的直接影响,与冠状动脉疾病的风险增加相关(比值比1.21,95%置信区间1.06-1.37;P=.031),腔室体积较小,和较低的冲程量,但收缩性更高。
    结论:这项研究的结果支持低出生体重在心血管疾病中的因果关系。即使考虑了宫内环境的影响。这表明低出生体重的个体可能受益于早期有针对性的心血管疾病预防策略。这与妊娠期间的不良宫内环境无关.
    OBJECTIVE: Low birth weight is a common pregnancy complication, which has been associated with higher risk of cardiometabolic disease in later life. Prior Mendelian randomization (MR) studies exploring this question do not distinguish the mechanistic contributions of variants that directly influence birth weight through the foetal genome (direct foetal effects), vs. variants influencing birth weight indirectly by causing an adverse intrauterine environment (indirect maternal effects). In this study, MR was used to assess whether birth weight, independent of intrauterine influences, is associated with cardiovascular disease risk and measures of adverse cardiac structure and function.
    METHODS: Uncorrelated (r2 < .001), genome-wide significant (P < 5 × 10-8) single nucleotide polymorphisms were extracted from genome-wide association studies summary statistics for birth weight overall, and after isolating direct foetal effects only. Inverse-variance weighted MR was utilized for analyses on outcomes of atrial fibrillation, coronary artery disease, heart failure, ischaemic stroke, and 16 measures of cardiac structure and function. Multiple comparisons were accounted for by Benjamini-Hochberg correction.
    RESULTS: Lower genetically-predicted birth weight, isolating direct foetal effects only, was associated with an increased risk of coronary artery disease (odds ratio 1.21, 95% confidence interval 1.06-1.37; P = .031), smaller chamber volumes, and lower stroke volume, but higher contractility.
    CONCLUSIONS: The results of this study support a causal role of low birth weight in cardiovascular disease, even after accounting for the influence of the intrauterine environment. This suggests that individuals with a low birth weight may benefit from early targeted cardiovascular disease prevention strategies, independent of whether this was linked to an adverse intrauterine environment during gestation.
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  • 文章类型: Editorial
    暂无摘要。
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  • 文章类型: Journal Article
    UNASSIGNED:不良妊娠结局在发展中国家更常见,在我们的次区域仍然普遍存在。微量白蛋白尿是内皮功能障碍的标志,并已被认为是一些不良妊娠结局(如先兆子痫)发展的病因因素。宫内生长受限(IUGR)和早产。
    UNASSIGNED:目的是确定微量白蛋白尿的患病率及其与不良妊娠结局的关系。
    UNASSIGNED:这是一项前瞻性横断面研究,在UsmanuDanfodiyo大学教学医院对妊娠早期妇女进行了随访,索科托.三百三十名在胎龄<20周时单胎妊娠的妇女,血压<140/90mmHg,空腹血糖正常,肾功能正常。有高血压病史的人,糖尿病,慢性肾病,镰状细胞贫血被排除,多胎妊娠,首次接触尿路感染或试纸蛋白尿阳性被排除.他们被连续招募,并完成了结构化的面试官问卷调查。进行白蛋白的单点尿液分析。对妇女进行随访,直至分娩时间和产褥期,并记录任何不良结局。
    未经批准:微量白蛋白尿的患病率为58.4%。孕产妇和胎儿的不良后果,如妊娠高血压疾病,胎膜早破,IUGR,早产和死产在微量白蛋白尿妇女中发生得更多.然而,微量白蛋白尿与不良结局之间无统计学显著关联(P>0.05).
    UASSIGNED:健康孕妇中微量白蛋白尿的患病率很高,有微量白蛋白尿的妇女比无微量白蛋白尿的妇女更频繁发生妊娠并发症。然而,这种关联不足以预测妊娠不良结局.
    UNASSIGNED: Adverse pregnancy outcomes occur more commonly in developing countries and are still prevalent in our sub-region. Microalbuminuria is a marker of endothelial dysfunction and has been proposed as an aetiological factor in the development of some adverse pregnancy outcomes such as pre-eclampsia, intrauterine growth restriction (IUGR) and pre-term labour.
    UNASSIGNED: The aim is to determine the prevalence of microalbuminuria and its association with adverse pregnancy outcomes.
    UNASSIGNED: This was a prospective cross-sectional study with follow-up amongst women in early pregnancy presenting at Usmanu Danfodiyo University Teaching Hospital, Sokoto. Three hundred and thirty women with singleton pregnancy at gestational age <20 weeks, blood pressure <140/90 mmHg, normal fasting blood sugar and normal renal function were recruited. Those with a history of hypertension, diabetes mellitus, chronic kidney disease, sickle cell anaemia were excluded, multiple pregnancies, urinary tract infection or positive dipstick proteinuria at first contact were excluded. They were recruited consecutively and a structured interviewer-administered questionnaire was completed. Single-spot urine analysis for albumin was performed. The women were followed up to the time of delivery and the puerperium and any adverse outcome were documented.
    UNASSIGNED: The prevalence of microalbuminuria was 58.4%. The maternal and foetal adverse outcomes such as hypertensive disorders of pregnancy, pre-mature rupture of membrane, IUGR, preterm birth and stillbirth occurred more amongst the women with microalbuminuria. However, there was no statistically significant association between microalbuminuria and having these adverse outcomes (P > 0.05).
    UNASSIGNED: There was a high prevalence of microalbuminuria amongst healthy pregnant women and pregnancy complications occurred more frequently in women with microalbuminuria than in those without. However, this association was not sufficient to predict adverse outcomes in pregnancy.
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  • 文章类型: Journal Article
    背景:关于胎动减少的陈述在急性产前评估中占很大比例。胎动减少与包括死胎在内的不良妊娠结局的可能性增加有关。基于共识的指南建议孕妇定期获得有关胎儿运动的信息,但是实践是不一致的,共享的信息通常不是基于证据的。关于胎动问题的评估和管理也存在知识空白。妇女表示,她们希望获得有关胎儿运动的更准确信息。
    结论:从历史上看,胎动信息集中在运动计数上。这是有问题的,由于孕妇之间感知到的胎动数量差异很大,并且没有固定数量的运动已被确定为胎儿健康的可靠指标。迟到了,产妇护理提供者还建议妇女观察婴儿的运动模式,如果他们注意到变化,并立即提出。然而,很少定义正常的胎动模式。最近,已经出现了一系列与母体对胎儿运动特征的感知有关的研究,例如力量,打嗝的存在,和昼夜模式作为胎儿健康的指标,除了频率。
    结论:分享有关胎儿运动的全面和适合妊娠的信息可能会让女性更满意,当她们的孩子做得很好的时候,赋予她们自己的身份,重要的是,当需要额外的评估时。我们提出了一种胎儿运动信息共享的对话方法,关注胎动强度,频率,昼夜节律模式,和正常胎儿发育的变化,为个人量身定制。
    BACKGROUND: Presentations for decreased fetal movements comprise a significant proportion of acute antenatal assessments. Decreased fetal movements are associated with increased likelihood of adverse pregnancy outcomes including stillbirth. Consensus-based guidelines recommend pregnant women routinely receive information about fetal movements, but practice is inconsistent, and the information shared is frequently not evidence-based. There are also knowledge gaps about the assessment and management of fetal movement concerns. Women have indicated that they would like more accurate information about what to expect regarding fetal movements.
    CONCLUSIONS: Historically, fetal movement information has focussed on movement counts. This is problematic, as the number of fetal movements perceived varies widely between pregnant women, and no set number of movements has been established as a reliable indicator of fetal wellbeing. Of late, maternity care providers have also advised women to observe their baby\'s movement pattern, and promptly present if they notice a change. However, normal fetal movement patterns are rarely defined. Recently, a body of research has emerged relating to maternal perception of fetal movement features such as strength, presence of hiccups, and diurnal pattern as indicators of fetal wellbeing in addition to frequency.
    CONCLUSIONS: Sharing comprehensive and gestation-appropriate information about fetal movements may be more satisfying for women, empowering women to identify for themselves when their baby is doing well, and importantly when additional assessment is needed. We propose a conversational approach to fetal movement information sharing, focusing on fetal movement strength, frequency, circadian pattern, and changes with normal fetal development, tailored to the individual.
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  • 文章类型: Journal Article
    未经证实:超声检查的临床应用随着时间的推移而变化和增加,尤其是超声测量参数预测分娩结果的能力。正确理解这些超声参数之间的关联,交货方式,不良的孕产妇和胎儿结局将进一步改善患者咨询以及产时护理计划。
    UNASSIGNED:这项研究探索了足月胎儿头围(HC)和颊至颊直径(CCD)的超声测量作为分娩结局的预测因子。
    UNASSIGNED:从产前诊所招募合格的足月孕妇,并进行了产科超声扫描,测量了HC和CCD。测量孕产妇和胎儿的结局,并包括分娩进展,产科撕裂,分娩方式和疑似胎儿窘迫。使用社会科学统计软件包(SPSS)第20版进行数据分析。
    UNASSIGNED:本研究招募了一百三十二名患者。胎儿HC测量值≥35cm与剖腹产几率-2.40密切相关(95%置信区间-1.02-5.66。P=0.046)。CCD和CCD/HC比都不能预测输送方式。随着HC和CCD的增加,会阴裂伤的发生和产程不良的发生频率更高。
    UNASSIGNED:HC在预测剖腹产和围产期结局方面表现良好。与CCD相比,超声检查测得的HC(≥35cm)与产程不良和不良围产期结局的产科干预措施的发生率更高。发现HC与分娩难产之间的关联是线性的。CCD不能很好地预测输送模式。
    UNASSIGNED: The clinical uses of ultrasonography have varied and increased over time, especially the ability of ultrasonographic measured parameters to predict the outcomes of labour. The proper understanding of the association between these ultrasonographic parameters, mode of delivery, adverse maternal and foetal outcomes will further improve patient counselling as well as the planning of intrapartum care.
    UNASSIGNED: The study explored the ultrasonographic measurement of foetal head circumference (HC) and cheek-to-cheek diameter (CCD) at term as predictors of labour outcomes.
    UNASSIGNED: Eligible pregnant women at term were recruited from the antenatal clinic and had obstetric ultrasound scans done with HC and CCD measured. Maternal and foetal outcomes were measured and included progress in labour, obstetric lacerations, mode of delivery and suspected foetal distress. Data analysis was performed using the Statistical Package for the Social Sciences (SPSS) version 20.
    UNASSIGNED: One hundred and thirty-two patients were recruited into the study. Foetal HC measurements ≥35 cm were closely associated with caesarean delivery odds ratio - 2.40 (95% confidence interval - 1.02-5.66. P = 0.046). Neither CCD nor CCD/HC ratio was predictive of the modes of delivery. The occurrence of perineal lacerations and poor progress of labour were observed more frequently with increasing HC and CCD.
    UNASSIGNED: HC performed well in predicting caesarean delivery as well as perinatal outcomes among parturients. The ultrasonographic measured HC (≥35 cm) is associated with a higher incidence of both obstetric interventions for poor progress of labour and adverse perinatal outcomes in comparison to CCD. The association between HC and labour dystocia was found to be linear. The CCD did not perform well as a predictor of the mode of delivery.
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  • 文章类型: Case Reports
    由于大量的低拷贝重复(LCR),22q11区域易于产生重复的拷贝数变异(CNV)。典型的重复包括LCR-A-D区域,但也报道了各种大小的非典型重复。这些重复导致高度可变的表型,具有不完全的外显率和表现力,这对于适当的遗传咨询是具有挑战性的,尤其是在产前时期。为了更好地描绘与这些CNVs相关的产前表型,我们在这里报告了12例(9个胎儿和3个死亡的新生儿婴儿)的临床和分子描述,携带复发性22q11重复(通过aCGH诊断),以及对现有文献的回顾。在近60%的病例中,22q11重复遗传自明显健康的父母。其他CNV被诊断为8%的病例。颈透明层增加和心脏异常(CHD)是观察到的最突出的表型,还有轻微的肾脏和骨骼异常.涵盖LCR-C至D区(和CRKL基因)的重复似乎更有可能产生CHD和肾脏畸形。在胎儿中观察到唇裂/腭裂,重复包括LCR-A至B区或SPECC1L基因,正如先前所建议的。然而,基因型-表型相关性仍然难以确定。第二命中点变体,表观遗传或环境变异可能在22q11重复的表型变异中起作用,但在短期妊娠评估中仍然是一个挑战。
    The 22q11 region is prone to generating recurring Copy Number Variations (CNVs) as a result of the large numbers of Low Copy Repeats (LCRs). Typical duplications encompass the LCR-A-to-D region but atypical duplications of various sizes have also been reported. These duplications are responsible for highly variable phenotypes with incomplete penetrance and expressivity, which is challenging for adequate genetic counselling, especially in the prenatal period. To better delineate prenatal phenotypes associated with these CNVs, we report here a clinical and molecular description of twelve cases (9 foetuses and 3 deceased new-borns babies) carrying recurrent 22q11 duplications (diagnosed via aCGH), along with a review of the existing literature. 22q11 duplications were inherited from an apparently healthy parent in almost 60% of the cases. Other CNVs were diagnosed for 8% of the cases. Increased nuchal translucency and cardiac anomalies (CHD) were the most prominent phenotypes observed, along with mild renal and skeletal anomalies. Duplications encompassing the LCR-C-to-D region (and the CRKL gene) seemed more likely to generate CHDs and renal malformations. Cleft lip/palate were observed in foetuses with duplications encompassing the LCR-A-to-B region or the SPECC1L gene, as previously suggested. However, genotype-phenotype correlations remain difficult to ascertain. Second-hit point variants, epigenetic or environmental variations could play a role in the phenotypic variability of 22q11 duplications, but remain a challenge for assessment in the short period of pregnancy.
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