Fetal Diseases

胎儿疾病
  • 文章类型: Journal Article
    胎儿心脏病的产前诊断可能会影响父母终止妊娠的决策。现有文献表明,严重性,无论是复杂性还是杀伤力,显著影响父母关于堕胎的决定。然而,关于胎儿心脏病严重程度如何影响父母决定的问题仍然存在,鉴于近期在术后结局方面的进展。因此,我们调查了胎儿心脏病产前诊断后与父母决定流产相关的危险因素.我们的分析包括妊娠22周前诊断为胎儿心脏病的73例(终止:n=37;续:n=36)妊娠。诊断时胎龄的增加降低了父母决定终止妊娠的可能性(模型1:调整后的比值比,0.94;95%置信区间0.89-0.99;模型2:0.950.90-0.997)。危重病(5.25;1.09-25.19)和并发心外或遗传异常(模型1:4.19,1.21-14.53;模型2:5.47,1.50-19.96)增加了选择流产的可能性。值得注意的是,复杂疾病对父母决定没有显著影响(0.56;0.14-2.20).这些结果表明,父母关于流产的决策可能会受到诊断时早期胎龄的影响。心脏病的致命性,心外或遗传异常,但如果产前诊断和父母咨询是在心血管专业机构提供的,则不是其复杂性。
    The prenatal diagnosis of fetal heart disease potentially influences parental decision-making regarding pregnancy termination. Existing literature indicates that the severity, whether in complexity or lethality, significantly influences parental decisions concerning abortion. However, questions remain as to how fetal heart disease severity impacts parental decisions, given recent advancements in postsurgical outcomes. Therefore, we investigated risk factors associated with parents\' decision-making regarding abortion following a prenatal diagnosis of fetal heart disease. Our analysis included 73 (terminated: n = 37; continued: n = 36) pregnancies with a fetal heart disease diagnosed before 22 weeks of gestation. Increased gestational age at diagnosis reduced the likelihood of parents\' decision on termination (Model 1: adjusted odds ratio, 0.94; 95% confidence interval 0.89-0.99; Model 2: 0.95 0.90-0.997). Critical disease (5.25; 1.09-25.19) and concurrent extracardiac or genetic abnormalities (Model 1: 4.19, 1.21-14.53; Model 2: 5.47, 1.50-19.96) increased the likelihood of choosing abortion. Notably, complex disease did not significantly influence parental decisions (0.56; 0.14-2.20). These results suggest that parental decision-making regarding abortion may be influenced by earlier gestational age at diagnosis, the lethality of heart disease, and extracardiac or genetic abnormalities, but not its complexity if prenatal diagnosis and parental counseling are provided at a cardiovascular-specialized facility.
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  • 文章类型: English Abstract
    这项研究的目的是探讨产前磁共振成像(MRI)在评估胎儿先天性囊性肺病中的实用价值,评估病变的相对大小和肺发育状况,并尝试在后处理中利用MRI的强度来获得病变大小和肺部发育状况的评估指标,可以预测这些胎儿出生后可能面临的预后。我们回顾性收集并分析了诊断为先天性囊性肺病的胎儿数据。这些胎儿的产前超声检查导致诊断他们怀疑患有先天性囊性肺病,并且随后的产前MRI证实了诊断。对胎儿进行随访以跟踪其出生时的状况(产后呼吸窘迫,机械通气,等。),胎儿是否接受了手术治疗,以及手术治疗后胎儿的恢复。随访胎儿的恢复情况,探讨产前MRI检查评估胎儿先天性肺囊性疾病的可行性,初步探讨产前MRI对先天性肺囊性疾病胎儿预后的预测价值。
    MRI胎儿图像收集自2018年5月至2023年3月在四川大学华西第二医院就诊的孕妇,通过产前超声和随后的MRI诊断为胎儿先天性肺囊性疾病。对先天性囊性肺病胎儿MRI图像进行后处理,获得胎儿肺部病变体积,胎儿受累的肺容积,健康的肺容量,和胎儿头围测量。肺和肝脏的信号强度,病变体积/受影响的肺体积,病变体积/总肺体积,囊性体积比(CVR),并测量双侧肺-肝信号强度比。结合胎儿出生后6个月的随访结果,进一步分析MRI后处理采集指标对先天性囊性肺病胎儿预后评估的可行性和价值。采用Logistic回归模型对产妇年龄、MRI时的孕周,CVR,和双侧肺-肝信号强度比,并评估这些指标是否与不良预后相关。受试者工作特征(ROC)曲线用于评估单独通过MRI计算获得的参数以及与预测出生后不良预后的多种指标相结合的参数的价值。
    我们收集了2018年5月至2023年3月间通过胎儿MRI诊断为先天性囊性肺病的胎儿共67例,并排除了6例受影响肺部无正常肺组织的病例,11例胎儿诱导,3例失孕。最后,纳入47例先天性囊性肺病胎儿,其中30例预后良好,17例预后不良。预后良好组与预后不良组胎儿患侧和健侧肺、肝的信号强度比值差异有统计学意义(P<0.05),健康侧肺和肝脏的信号强度比高于患侧肺和肝脏的信号强度比。进一步分析表明,CVR(比值比[OR]=1.058,95%置信区间[CI]:1.014-1.104),患侧和健康侧的肺-肝信号强度比之间的差异(OR=0.814,95%CI:0.700-0.947)与先天性囊性肺病胎儿的出生预后不良相关。此外,ROC曲线分析显示,联合应用病变体积/受累肺体积和观察到的受累肺与健康肺和肝脏之间信号强度比值的差异,比单参数判断更准确地预测先天性囊性肺病患儿的预后。曲线下面积为0.988,截止值为0.33,对应灵敏度为100%,特异性为93.3%,95%CI为0.966-1.000。
    基于先天性囊性肺病胎儿的MRI,我们获得了病变体积的信息,病变体积/受影响的肺体积,病变体积/总肺体积,CVR,和双侧肺-肝信号强度比值差异,所有这些都在预测先天性囊性肺病胎儿的不良预后方面显示出一定的临床价值。此外,在组合指数中,病变体积/受累肺体积和双侧肺-肝信号强度比差异是先天性囊性肺病胎儿预后不良的更有效预测因子。在预测先天性囊性肺病胎儿的不良预后方面有较好的疗效。这为进一步评估先天性囊性肺病胎儿的肺发育提供了一种新的有效的预测方法。有助于提高对先天性囊性肺病胎儿预后的评估和预测。
    UNASSIGNED: The aim of this study is to explore the practical value of prenatal magnetic resonance imaging (MRI) in the assessment of congenital cystic lung disease in fetuses, to evaluate the relative size of the lesion and the status of lung development, and to make an attempt at utilizing the strength of MRI in post-processing to obtain assessment indicators of the size of the lesion and the status of lung development, with which predictions can be made for the prognosis that these fetuses may face after birth. We retrospectively collected and analyzed the data of fetuses diagnosed with congenital cystic lung disease. Prenatal ultrasound examination of these fetuses led to the diagnosis that they were suspected of having congenital cystic lung disease and the diagnosis was confirmed by subsequent prenatal MRI. The fetuses were followed up to track their condition at birth (postnatal respiratory distress, mechanical ventilation, etc.), whether the fetuses underwent surgical treatment, and the recovery of the fetuses after surgical treatment. The recovery of the fetuses was followed up to explore the feasibility of prenatal MRI examination to assess fetal congenital pulmonary cystic disease, and to preliminarily explore the predictive value of prenatal MRI for the prognosis of fetuses with congenital pulmonary cystic disease.
    UNASSIGNED: MRI fetal images were collected from pregnant women who attended the West China Second University Hospital of Sichuan University between May 2018 and March 2023 and who were diagnosed with fetal congenital pulmonary cystic disease by prenatal ultrasound and subsequent MRI. Fetal MRI images of congenital cystic lung disease were post-processed to obtain the fetal lung lesion volume, the fetal affected lung volume, the healthy lung volume, and the fetal head circumference measurements. The signal intensity of both lungs and livers, the lesion volume/the affected lung volume, the lesion volume/total lung volume, the cystic volume ratio (CVR), and the bilateral lung-liver signal intensity ratio were measured. The feasibility and value of MRI post-processing acquisition indexes for evaluating the prognosis of fetuses with congenital cystic lung disease were further analyzed by combining the follow-up results obtained 6 months after the birth of the fetus. Logistic regression models were used to quantify the differences in maternal age, gestational week at the time of MRI, CVR, and bilateral lung-to-liver signal intensity ratio, and to assess whether these metrics correlate with poor prognosis. Receiver operating characteristic (ROC) curves were used to assess the value of the parameters obtained by MRI calculations alone and in combination with multiple metrics for predicting poor prognosis after birth.
    UNASSIGNED: We collected a total of 67 cases of fetuses diagnosed with congenital cystic lung disease by fetal MRI between May 2018 and March 2023, and excluded 6 cases with no normal lung tissue in the affected lungs, 11 cases of fetal induction, and 3 cases of loss of pregnancy. In the end, 47 cases of fetuses with congenital cystic lung disease were included, of which 30 cases had a good prognosis and 17 cases had a poor prognosis. The difference in the difference between the signal intensity ratios of the affected and healthy sides of the lungs and livers of the fetuses in the good prognosis group and that in the poor prognosis group was statistically significant (P<0.05), and the signal intensity ratio of the healthy side of the lungs and livers was higher than the signal intensity ratio of the affected side of the lungs and livers. Further analysis showed that CVR (odds ratio [OR]=1.058, 95% confidence interval [CI]: 1.014-1.104), and the difference between the lung-to-liver signal intensity ratios of the affected and healthy sides (OR=0.814, 95% CI: 0.700-0.947) were correlated with poor prognosis of birth in fetuses with congenital cystic lung disease. In addition, ROC curve analysis showed that the combined application of lesion volume/affected lung volume and the observed difference in the signal intensity ratio between the affected and healthy lungs and liver predicted the prognosis of children with congenital cystic lung disease more accurately than the single-parameter judgment did, with the area under the curve being 0.988, and the cut-off value being 0.33, which corresponded to a sensitivity of 100%, a specificity of 93.3%, and a 95% CI of 0.966-1.000.
    UNASSIGNED: Based on the MRI of fetuses with congenital cystic lung disease, we obtained information on lesion volume, lesion volume/affected lung volume, lesion volume/total lung volume, CVR, and bilateral lung-to-liver signal intensity ratio difference, all of which showing some clinical value in predicting the poor prognosis in fetuses with congenital cystic lung disease. Furthermore, among the combined indexes, the lesion volume/affected lung volume and bilateral lung-to-liver signal intensity ratio difference are more effective predictors for the poor prognosis of fetuses with congenital cystic lung disease, and show better efficacy in predicting the poor prognosis of fetuses with congenital cystic lung disease. This provides a new and effective predictive method for further assessment of pulmonary lung development in fetuses with congenital cystic lung disease, and helps improve the assessment and prediction of the prognosis of fetuses with congenital cystic lung disease.
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  • 文章类型: Journal Article
    牛病毒性腹泻病毒(BVDV)感染每年造成15-20亿美元的损失。妊娠150天后的母体BVDV会导致短暂的胎儿感染(TI),其中胎儿免疫反应会清除病毒。胎儿TIBVDV感染对出生后生长和白细胞(WBC)甲基化作为表观遗传修饰指标的影响,通过在妊娠第175天用非细胞病变2型BVDV或培养基(假接种对照)接种妊娠母牛以产生TI(n=11)和对照母牛(n=12)。通过出生时的病毒中和抗体滴度证实了TI小牛的胎儿感染,而对照小牛是血清阴性的。通过RT-PCR,对照和TI小牛在WBC中的BVDVRNA均为阴性。TI小牛的平均体重小于对照(p<0.05)。WBCDNA的DNA甲基序列分析证明了2349个差异甲基化的胞嘧啶(p≤0.05),包括1277个低甲基化的胞嘧啶,1072超甲基化胞嘧啶,84个基于启动子中CpG的差异甲基化区域,与对照相比,TIWBCDNA岛中有89个DMRs。妊娠晚期胎儿BVDV感染导致预测影响胎儿发育和免疫途径的表观基因组修饰,提示对TI牛出生后生长和健康的潜在影响。
    Bovine viral diarrhea virus (BVDV) infections cause USD 1.5-2 billion in losses annually. Maternal BVDV after 150 days of gestation causes transient fetal infection (TI) in which the fetal immune response clears the virus. The impact of fetal TI BVDV infections on postnatal growth and white blood cell (WBC) methylome as an index of epigenetic modifications was examined by inoculating pregnant heifers with noncytopathic type 2 BVDV or media (sham-inoculated controls) on Day 175 of gestation to generate TI (n = 11) and control heifer calves (n = 12). Fetal infection in TI calves was confirmed by virus-neutralizing antibody titers at birth and control calves were seronegative. Both control and TI calves were negative for BVDV RNA in WBCs by RT-PCR. The mean weight of the TI calves was less than that of the controls (p < 0.05). DNA methyl seq analysis of WBC DNA demonstrated 2349 differentially methylated cytosines (p ≤ 0.05) including 1277 hypomethylated cytosines, 1072 hypermethylated cytosines, 84 differentially methylated regions based on CpGs in promoters, and 89 DMRs in islands of TI WBC DNA compared to controls. Fetal BVDV infection during late gestation resulted in epigenomic modifications predicted to affect fetal development and immune pathways, suggesting potential consequences for postnatal growth and health of TI cattle.
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  • 文章类型: Journal Article
    怀孕期间的RhD同种免疫仍然是胎儿和新生儿溶血病(HDFN)的主要原因。然而,还有其他抗原可能与这种现象的发生有关,并且比例一直在增长,鉴于目前的预防策略仅侧重于抗RhD抗体。虽然不广泛,由这些抗体引起的疾病的筛查和诊断管理在文献中有建议.出于这个原因,进行了以下审查,目的是列出所描述的主要红细胞抗原组-例如Rh,ABO,凯尔,MNS,Duffy,基德,除其他外-解决每个人的临床重要性,流行在不同的国家,并建议在怀孕期间检测此类抗体时进行管理。
    RhD alloimmunization in pregnancy is still the main cause of hemolytic disease of the fetus and neonate (HDFN). Nevertheless, there are other antigens that may be associated with the occurrence of this phenomenon and that have been growing in proportion, given that current prevention strategies focus only on anti-RhD antibodies. Although not widespread, the screening and diagnostic management of the disease caused by these antibodies has recommendations in the literature. For this reason, the following review was carried out with the objective of listing the main red blood cell antigen groups described - such as Rh, ABO, Kell, MNS, Duffy, Kidd, among others - addressing the clinical importance of each one, prevalence in different countries, and recommended management when detecting such antibodies during pregnancy.
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  • 文章类型: Journal Article
    我们中心观察到,在2023年3月至5月期间,胎儿左右(LR)不对称疾病的检出率大幅增加。这一发现引起了人们的关注,因为这些孕妇在孕早期经历了SARS-CoV-2在中国的高峰爆发。探讨母体SARS-CoV-2感染与胎儿LR不对称障碍的关系。回顾性收集2018年1月至2023年12月诊断为胎儿LR不对称障碍的临床和超声数据。病例对照研究以1:1的比例涉及患有LR不对称障碍的胎儿和正常胎儿。我们评估并比较了SARS-CoV-2感染孕妇和未感染孕妇的临床和胎儿超声检查结果。学生t检验用于比较连续变量,而卡方检验用于单变量分析。2018-2023年LR不对称障碍的发病率如下:0.17‰,0.63‰,0.61‰,0.57‰,0.59‰,和3.24‰,分别。包括总共30个患有LR不对称障碍的胎儿和30个正常胎儿。这项病例对照研究发现SARS-CoV-2感染(96.67%vs3.33%,P=.026)和妊娠早期感染(96.55%vs3.45%,P=.008)被确定为危险因素。比值比分别为10.545(95%CI1.227,90.662)和13.067(95%CI1.467,116.419)。在妊娠早期SARS-CoV-2感染的病例中,大多数感染(88.1%,37/42)发生在妊娠5至6周之间。我们发现,43.7%(66/151)的LR不对称障碍的胎儿有相关的畸形,90.9%(60/66)出现心脏畸形。妊娠早期SARS-CoV-2感染显著增加胎儿LR不对称疾病的风险,特别是当感染发生在妊娠5至6周时。最常见的相关畸形是心脏畸形。
    Our center has observed a substantial increase in the detection rate of fetal left-right(LR) asymmetry disorders between March and May 2023. This finding has raised concerns because these pregnant women experienced the peak outbreak of SARS-CoV-2 in China during their first trimester. To explore the relationship between maternal SARS-CoV-2 infection and fetal LR asymmetry disorders. A retrospective collection of clinical and ultrasound data diagnosed as fetal LR asymmetry disorders was conducted from January 2018 to December 2023. The case-control study involved fetuses with LR asymmetry disorders and normal fetuses in a 1:1 ratio. We evaluated and compared the clinical and fetal ultrasound findings in pregnant women with SARS-CoV-2 infection and pregnant women without infection. The Student t-test was utilized to compare continuous variables, while the chi-squared test was employed for univariable analyses. The incidence rate of LR asymmetry disorders from 2018 to 2023 was as follows: 0.17‰, 0.63‰, 0.61‰, 0.57‰, 0.59‰, and 3.24‰, respectively. A total of 30 fetuses with LR asymmetry disorders and 30 normal fetuses were included. This case-control study found that SARS-CoV-2 infection (96.67% vs 3.33%, P = .026) and infection during the first trimester (96.55% vs 3.45%, P = .008) were identified as risk factors. The odds ratio values were 10.545 (95% CI 1.227, 90.662) and 13.067 (95% CI 1.467, 116.419) respectively. In cases of SARS-CoV-2 infection in the first trimester, the majority of infections (88.1%, 37/42) occurred between 5 and 6 weeks of gestation. We found that 43.7% (66/151) of fetuses with LR asymmetry disorder had associated malformations, 90.9% (60/66) exhibited cardiac malformations. SARS-CoV-2 infection during the first trimester significantly increases the risk of fetal LR asymmetry disorders, particularly when the infection occurs between 5 and 6 gestation weeks. The most common associated malformation is heart malformation.
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  • 文章类型: Case Reports
    Megacystis微结肠肠蠕动综合征(MMIHS)是一种罕见的,先天性功能性肠梗阻,以巨膀胱为特征(在没有机械阻塞的情况下膀胱扩张),微结肠和肠蠕动不足(运动障碍)。我们报告了一例产前正常的女性儿童,自生命的第二天以来反复出现腹胀,并多次进行了负面的剖腹探查。她还有尿潴留,膀胱严重扩张,需要通过清洁的间歇性导管引流。肠减压的外科手术,包括胃造口术和回肠造口术,没有成功。遗传分析显示人类平滑肌(肠)γ-肌动蛋白基因(ACTG2基因)发生突变,确定MMIHS的诊断。在死于疾病之前,该患者接受了肠外营养和促动力药物治疗,并耐受了空肠造口术。应尽早调查出现腹胀和尿路扩张的女性新生儿或婴儿的MMIHS。及时的诊断将使多学科团队的早期参与能够为管理提供最佳选择。
    Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare, congenital functional intestinal obstruction, characterised by megacystis (bladder distention in the absence of mechanical obstruction), microcolon and intestinal hypoperistalsis (dysmotility).We are reporting a case of a female child with normal antenatal course who presented with recurrent episodes of abdominal distension since the second day of life and underwent negative exploratory laparotomy on multiple occasions. She also had urinary retention with a grossly distended bladder, requiring drainage by clean intermittent catheterisation. Surgical procedures for bowel decompression, including gastrostomy and ileostomy, were carried out without success. Genetic analysis revealed a mutation in the human smooth muscle (enteric) gamma-actin gene (ACTG2 gene), clinching the diagnosis of MMIHS. The patient was managed with parenteral nutrition and prokinetic medications and tolerated jejunostomy feeds for a brief period before she succumbed to the illness.Female neonates or infants presenting with abdominal distension and dilated urinary tract should be investigated for MMIHS early on. A timely diagnosis will enable the early involvement of a multidisciplinary team to provide the best options available for management.
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  • 文章类型: Meta-Analysis
    背景:胎盘管理策略,例如脐带挤奶和延迟脐带夹紧可能为新生儿提供一系列益处。这篇综述的目的是评估脐带挤奶和延迟脐带夹闭对预防新生儿低血糖的有效性。
    方法:系统回顾了三个数据库和五个临床试验注册中心,以确定比较足月和早产儿脐带挤奶或延迟脐带夹闭与对照的随机对照试验。主要结果是新生儿低血糖(研究定义)。两名独立审核员进行了筛选,数据提取和质量评估。使用Cochrane偏差风险工具(RoB-2)评估纳入研究的质量。使用建议分级评估证据的确定性,评估,开发和评估(等级)方法。使用ReviewManager5.4进行随机效应模型的Meta分析。该审查在PROSPERO(CRD42022356553)上进行了前瞻性注册。
    结果:本综述纳入了来自71项研究和14268名婴儿的数据;22名(2537名婴儿)将脐带挤奶与对照组进行了比较,和50项研究(11731名婴儿)比较延迟与早期脐带夹闭。对于脐带挤奶,没有新生儿低血糖的数据,对于任何次要结局,组间没有差异。我们没有发现延迟脐带夹闭可降低低血糖发生率的证据(6项研究,444名婴儿,RR=0.87,CI:0.58至1.30,p=0.49,I2=0%)。延迟脐带夹闭与新生儿死亡率降低27%相关(15项研究,3041名婴儿,RR=0.73,CI:0.55至0.98,p=0.03,I2=0%)。我们没有发现延迟脐带夹紧对任何其他结果的影响的证据。所有结果的证据确定性都很低。
    结论:我们没有发现脐带挤奶对新生儿低血糖的有效性数据,没有证据表明延迟脐带夹闭可降低低血糖的发生率,但是证据的确定性很低。
    BACKGROUND: Placental management strategies such as umbilical cord milking and delayed cord clamping may provide a range of benefits for the newborn. The aim of this review was to assess the effectiveness of umbilical cord milking and delayed cord clamping for the prevention of neonatal hypoglycaemia.
    METHODS: Three databases and five clinical trial registries were systematically reviewed to identify randomised controlled trials comparing umbilical cord milking or delayed cord clamping with control in term and preterm infants. The primary outcome was neonatal hypoglycaemia (study defined). Two independent reviewers conducted screening, data extraction and quality assessment. Quality of the included studies was assessed using the Cochrane Risk of Bias tool (RoB-2). Certainty of evidence was assessed using the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) approach. Meta-analysis using a random effect model was done using Review Manager 5.4. The review was registered prospectively on PROSPERO (CRD42022356553).
    RESULTS: Data from 71 studies and 14 268 infants were included in this review; 22 (2 537 infants) compared umbilical cord milking with control, and 50 studies (11 731 infants) compared delayed with early cord clamping. For umbilical cord milking there were no data on neonatal hypoglycaemia, and no differences between groups for any of the secondary outcomes. We found no evidence that delayed cord clamping reduced the incidence of hypoglycaemia (6 studies, 444 infants, RR = 0.87, CI: 0.58 to 1.30, p = 0.49, I2 = 0%). Delayed cord clamping was associated with a 27% reduction in neonatal mortality (15 studies, 3 041 infants, RR = 0.73, CI: 0.55 to 0.98, p = 0.03, I2 = 0%). We found no evidence for the effect of delayed cord clamping for any of the other outcomes. The certainty of evidence was low for all outcomes.
    CONCLUSIONS: We found no data for the effectiveness of umbilical cord milking on neonatal hypoglycaemia, and no evidence that delayed cord clamping reduced the incidence of hypoglycaemia, but the certainty of the evidence was low.
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  • 文章类型: Case Reports
    G3P2L1,妊娠28+4周恒河猴(Rh)同种免疫孕妇,以Rh抗体滴度为1:32的三羊膜三胎妊娠。颈部半透明和异常扫描均在正常范围内,任何胎儿均无重大畸形。具有大脑中动脉收缩期峰值容积的产科彩色多普勒显示,所有三个胎儿的胎儿贫血的速度约为中位数的1.5倍。决定对所有三个胎儿进行宫内输血。获得胎儿具有挑战性,输血需要介入超声方面的专业知识。患者对手术耐受良好,最终在妊娠34周时因子痫前期恶化而顺利分娩。出生后,所有3例三胞胎均接受了3组表面强化光疗和静脉注射免疫球蛋白,剂量为1g/kg.光疗逐渐减少,72小时内停止,婴儿在96小时大时从新生儿重症监护室出院。
    G3P2L1, 28+4 weeks of gestation rhesus (Rh) isoimmunised pregnant women, was referred with trichorionic triamniotic triplet pregnancy with Rh antibody titres of 1:32. Nuchal translucency and anomaly scan were within normal limits with no major malformation for any of the fetuses. Obstetric colour Doppler with middle cerebral artery peak systolic volume revealed foetal anaemia in all three fetuses having velocities corresponding to around 1.5 times the median. Decision of intrauterine transfusion of blood to all three fetuses was taken. Access to fetuses was challenging and expertise in interventional ultrasound was required for transfusion. The patient tolerated the procedure well and eventually went on to deliver uneventfully at 34 weeks of gestation for worsening pre-eclampsia. After birth, all three triplets received triple-surface intensive phototherapy and intravenous immunoglobulin at a dosage of 1 g/kg. Phototherapy was gradually reduced and discontinued within 72 hours, and the infants were discharged from the neonatal intensive care unit at 96 hours of age.
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  • 文章类型: Case Reports
    足月婴儿出生后出现胆汁淤积性黄疸。评估时,她被诊断为妊娠同种免疫性肝病-新生儿血色素沉着症(GALD-NH)。婴儿接受了静脉注射免疫球蛋白(IVIG),并逐渐康复。在评估过程中,她还被诊断出患有α地中海贫血,基因检测证实。NH是一种非常罕见的疾病,由于肝功能衰竭导致胎儿丢失或新生儿死亡。现在已知NH是GALD的表型表达。全球,在不到百万分之一的怀孕中可以看到NH。传统上,GALD的死亡率约为80%,几乎所有需要肝移植的婴儿,随着孕产妇和新生儿IVIG治疗的出现,这大大减少了。没有报道用印度的IVIG成功治疗GALD-NH的病例。这里,我们报道了一个有趣的GALD-NH伴α地中海贫血的病例。
    A term baby presented with cholestatic jaundice since birth. She was diagnosed as gestational alloimmune liver disease-neonatal haemochromatosis (GALD-NH) on evaluation. The baby received intravenous immunoglobulin (IVIG) and recovered gradually from the illness. She was also diagnosed with alpha thalassaemia during the course of evaluation, confirmed by genetic testing. NH is a very rare disorder that results in fetal loss or neonatal death due to liver failure. NH is now known to be a phenotypic expression of GALD. Worldwide, NH is seen in less than one in a million pregnancies. The mortality rate of GALD has traditionally been around 80% with almost all babies needing liver transplantation, with advent of maternal and neonatal IVIG treatment, this has reduced significantly. There is no reported case of GALD-NH treated successfully with IVIG from India. Here, we report an interesting case of GALD-NH with alpha thalassaemia.
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  • 文章类型: Journal Article
    人类巨细胞病毒(CMV)感染是发达国家先天性畸形的主要非遗传病因,造成严重的胎儿神经损伤。这项研究使用体外人脑类器官研究了胎儿神经畸形的潜在CMV发病机制。脑类器官允许CMV复制,和感染失调的细胞多能性和分化途径。双特异性酪氨酸磷酸化调节激酶(DYRK)的异常表达,索尼克刺猬(SHH),多能性,神经变性,轴突引导,使用免疫荧光和RNA测序在CMV感染的类器官中观察到河马信号和多巴胺能突触途径。CMV感染导致236个自闭症谱系障碍(ASD)相关基因(p=1.57E-05)和途径的失调。这一值得注意的观察表明先天性CMV感染与ASD之间存在潜在联系。使用DisGeNET数据库,在CMV感染的类器官中富集了103种与神经畸形或精神障碍相关的疾病。巨细胞病毒感染相关的关键脑细胞通路的失调可能提供重要的,先天性CMV诱导的神经畸形和ASD的可改变的致病机制。
    Human cytomegalovirus (CMV) infection is the leading non-genetic aetiology of congenital malformation in developed countries, causing significant fetal neurological injury. This study investigated potential CMV pathogenetic mechanisms of fetal neural malformation using in vitro human cerebral organoids. Cerebral organoids were permissive to CMV replication, and infection dysregulated cellular pluripotency and differentiation pathways. Aberrant expression of dual-specificity tyrosine phosphorylation-regulated kinases (DYRK), sonic hedgehog (SHH), pluripotency, neurodegeneration, axon guidance, hippo signalling and dopaminergic synapse pathways were observed in CMV-infected organoids using immunofluorescence and RNA-sequencing. Infection with CMV resulted in dysregulation of 236 Autism Spectrum Disorder (ASD)-related genes (p = 1.57E-05) and pathways. This notable observation suggests potential links between congenital CMV infection and ASD. Using DisGeNET databases, 103 diseases related to neural malformation or mental disorders were enriched in CMV-infected organoids. Cytomegalovirus infection-related dysregulation of key cerebral cellular pathways potentially provides important, modifiable pathogenetic mechanisms for congenital CMV-induced neural malformation and ASD.
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