Fetal MRI

胎儿 MRI
  • 文章类型: Journal Article
    先天性肿瘤很少见,恶性先天性肿瘤并不常见。良性图,Mors可能会危及生命,取决于肿瘤的位置和大小。不同因素影响先天性肿瘤,如母体和胎盘激素和环境因素如药物,辐射,和感染。开发胎儿影像学检查方法和孕期连续随访是影响先天性肿瘤预后的重要因素。超声是用于胎儿评估的最常用方法。补充评估方法是MRI。这两种方法对先天性肿瘤的检测都很有帮助,并且广泛传播。这些成像方法帮助医疗团队做出合适的治疗决定。其中一些肿瘤自发消退,有些需要手术治疗.肿瘤的治疗发展迅速,最近已经使用了分子靶向药物。
    Congenital tumors are rare, and malignant congenital tumors are uncommon. Benign tu,mors might be life-threatening, depending on the location and size of the tumor. Different factors affect congenital tumors, such as maternal and placental hormones and environmental factors such as drugs, radiation, and infection. Developing fetal imaging methods and continuous follow-up during pregnancy are important factors in congenital tumor prognosis. Ultrasound is the most common method used for fetal evaluation. The complementary evaluation method is MRI. Both methods are helpful and widely spread for the detection of congenital tumors. These imaging methods help the medical team make a suitable decision about therapy. Some of these tumors regressed spontaneously, and some need surgical treatments. Treatment of tumors has developed rapidly, and recently molecular-targeted drugs have been used.
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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
    透明隔是位于大脑中线前部的虚拟空腔,只有在胎儿体内有一定量的液体。在产前时期存在闭塞的透明隔腔(oCSP)的文献描述很少,但是,然而,就意义和预后而言,它构成了胎儿医学专家的重要临床困境。此外,它的发生正在增加,可能是由于高分辨率超声机的普及。这项工作的目的是回顾有关oCSP的现有文献以及对具有意外结果的oCSP病例报告的描述。
    直到2022年12月,通过Pubmed进行了文献搜索,目的是确定先前描述的所有oCSP病例。使用作为关键字\“cavumseptipellucidi,\“\”异常的隔透明腔,\"\"胎儿,“和”透明隔。“随着叙事审查,我们描述了一个oCSP的病例报告。
    一名39岁的女性在妊娠早期被诊断为95°和99°百分位数之间的颈部半透明,在20周时被诊断为OCSP和“钩状”胆囊。在胎儿磁共振成像(MRI)中发现了左多微陀螺。标准核型和染色体微阵列分析(CMA)正常。出生后,新生儿出现严重酸中毒的迹象,无法治愈的癫痫发作和多器官衰竭导致死亡。癫痫组的靶向基因分析揭示了涉及PTEN基因的从头致病性变体的存在。文献综述确定了四篇关于oCSP的文章,其中三篇是病例报告,一篇是病例系列。相关大脑发现的报告比率约为20%,神经系统不良结局的比率约为6%,高于普通人群的背景风险。
    此病例报告和文献综述表明,oCSP是一种临床实体,迄今为止描述不佳,尽管预后总体良好,在咨询时需要谨慎。诊断检查应包括神经超声检查,而胎儿MRI可能仅适用于非孤立病例,取决于当地的设施。靶向基因分析或全外显子组测序可用于非隔离病例。
    UNASSIGNED: The septum pellucidum is a virtual cavity located at the anterior part of the brain midline, which only in fetal life has a certain amount of fluid inside. The presence of an obliterated cavum septi pellucidi (oCSP) in the prenatal period is poorly described in the literature but, nevertheless, it constitutes an important clinical dilemma for the fetal medicine specialist in terms of significance and prognosis. Moreover, its occurrence is increasing maybe because of the widespread of high-resolution ultrasound machine. The aim of this work is to review the available literature regarding the oCSP along with the description of a case-report of oCSP with an unexpected outcome.
    UNASSIGNED: A search of the literature through Pubmed was performed up to December 2022 with the aim to identify all cases of oCSP previously described, using as keywords \"cavum septi pellucidi,\" \"abnormal cavum septi pellucidi,\" \"fetus,\" and \"septum pellucidum.\" Along with the narrative review, we describe a case-report of oCSP.
    UNASSIGNED: A 39 years old woman was diagnosed with a nuchal translucency between the 95° and 99° centile in the first trimester and an oCSP and \"hookshaped\" gallbladder at 20 weeks. Left polymicrogyria was found at fetal magnetic resonance imaging (MRI). Standard karyotype and chromosomal microarray analysis (CMA) were normal. After birth, the newborn presented signs of severe acidosis, untreatable seizures and multiorgan failure leading to death. A targeted gene analysis of the epilepsy panel revealed the presence of a de novo pathogenic variant involving the PTEN gene. The literature review identified four articles reporting on the oCSP of which three were case report and one was a case-series. The reported rate of associated cerebral findings is around 20% and the rate of adverse neurological outcome is around 6%, which is higher than the background risk of the general population.
    UNASSIGNED: This case-report and review of the literature shows that oCSP is a clinical entity poorly described so far and that, despite the generally good prognosis, it requires caution in counseling. The diagnostic work-up should include neurosonography while fetal MRI may be always indicated for non-isolated cases only, depending on local facilities. Targeted gene analysis or whole exome sequencing may be indicated for non-isolated cases.
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  • 文章类型: Systematic Review
    目的:有足够的call体(CC)大小参考范围对于更好地表征CC异常和改善父母咨询是必要的。这项研究的目的是评估用于开发CC生物统计学的不同参考图表的方法。
    方法:我们使用一组预定义的研究设计质量标准对胎儿CC生物测量研究进行了系统回顾,统计分析和报告方法。我们包括观察性研究,其主要目的是为正常胎儿群体中CC的大小创建超声或MRI图。根据一组预定义的独立商定的方法学标准对研究进行评分,并对每个研究进行总体质量评分。
    结果:12项研究符合纳入标准。质量评分介于17.4%和95.6%之间。在以下领域中发现了最大的偏倚可能性:“样本选择”和“样本量计算”,其中只有17%的研究是基于人群的研究,具有连续或随机招募患者的理由。样本量;“CC生物识别技术的测量数量”,其中只有17%的研究对每个胎儿和每次扫描进行了更多的测量;“对研究人群的特征的描述清楚地报告了最少9%的人口统计学研究。”
    结论:我们的综述显示了胎儿CC测量的方法和最终生物测量值的显著异质性。为了定义“短”CC并提供适当的父母咨询,使用最高质量的统一方法至关重要。本文受版权保护。保留所有权利。
    Adequate reference ranges of size of the corpus callosum (CC) are necessary to improve characterization of CC abnormalities and parental counseling. The objective of this study was to evaluate the methodology used in studies developing references charts for CC biometry.
    We conducted a systematic review of studies on fetal CC biometry using a set of predefined quality criteria of study design, statistical analysis and reporting methods. We included observational studies whose primary aim was to create ultrasound or magnetic resonance imaging charts for CC size in a normal population of fetuses. Studies were scored against a predefined set of independently agreed methodological criteria, and an overall quality score was given for each study.
    Twelve studies met the inclusion criteria. Quality scores ranged between 17.4% and 95.7%. The greatest potential for bias was noted for the following items: sample selection and sample-size calculation, as only 17% of the studies were population-based and had consecutive or random recruitment of patients and with a justification of the sample size; number of measurements obtained for CC biometry, as only 17% of the studies performed more than one measurement per fetus and per scan; and description of characteristics of the study population, as only 8% of the studies clearly reported a minimum dataset of demographic characteristics.
    Our review demonstrates substantial heterogeneity in methods and final biometric values of the fetal CC across the evaluated studies. The use of uniform methodology of the highest quality is essential in order to define a \'short\' CC and provide appropriate parental counseling. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
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  • 文章类型: Journal Article
    胎儿脑室增大是指产前诊断的脑室增大。它是最常见的胎儿畸形之一。当心室的动脉直径大于10毫米时,通过超声进行诊断。一旦被诊断出来,通过详细的超声进一步评估,胎儿MRI,基因研究是必需的。胎儿脑室增宽的产前手术管理仍然有限,并且与高风险相关。产后管理类似于其他类型的脑积水的治疗。胎儿脑室肥大是一种异质性疾病,具有多种病因和广泛的神经发育结果。结果主要取决于心室肥大的严重程度和相关的结构异常。本文旨在回顾有关胎儿脑室增宽的各个方面的文献。
    Fetal ventriculomegaly refers to ventricular enlargement that is diagnosed prenatally. It is one of the most common fetal anomalies. The diagnosis is made by ultrasound when the arterial diameter of the ventricle is more than 10 mm. Once it is diagnosed, further evaluation by detailed ultrasound, fetal MRI, and genetic studies is required. Prenatal surgical management of fetal ventriculomegaly is still limited and associated with high risks. Postnatal management is similar to the treatment of other types of hydrocephalus. Fetal ventriculomegaly is a heterogeneous condition with various etiologies and a wide spectrum of neurodevelopmental outcomes. The outcomes depend mainly on the severity of ventriculomegaly and associated structural abnormalities. This article aims to review the literature about various aspects of fetal ventriculomegaly.
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  • 文章类型: Journal Article
    目的:我们的目的是总结目前与产前或新生儿期诊断的腹内泌尿生殖系统肿瘤影像学相关的文献。我们的具体兴趣包括使用的模式,诊断,改变肿瘤检测的发生率,并提出了这些成像方式的未来用途。
    结果:胎儿和新生儿MRI已被用作超声的辅助手段,以更好地表征和评估先天性中胚层肾瘤。幼年颗粒细胞瘤,和其他肿瘤。尽管最近有文献描述胎儿和新生儿MRI,尚无法确定其使用是否会改变肿瘤检测的发生率。成像技术的改进,特别是使用胎儿MRI,允许更早地识别泌尿生殖系统肿块,提高诊断能力,监视,手术计划,有时对恶性肿瘤和相关诊断进行产前治疗,以预防妊娠和分娩并发症为目标。
    OBJECTIVE: Our goal was to summarize current literature related to imaging of intra-abdominal genitourinary tumors diagnosed in the prenatal or neonatal period. Our specific interests included modalities used, diagnoses made, changing incidence of tumor detection, and proposed future uses of these imaging modalities.
    RESULTS: Fetal and neonatal MRI have been used as an adjunct to ultrasound for better characterization and assessment of congenital mesoblastic nephroma, juvenile granulosa cell tumor, and other tumors. Despite recent literature describing fetal and neonatal MRI, it is not yet possible to determine whether its use is changing the incidence of tumor detection. Improvements in imaging technology, specifically the use of fetal MRI, have allowed for earlier identification of genitourinary masses with improved capability for diagnosis, surveillance, surgical planning, and sometimes prenatal treatment of the malignancy and related diagnoses, with a goal of preventing pregnancy and delivery complications.
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  • 文章类型: Case Reports
    视网膜母细胞瘤是典型的遗传性肿瘤。由RB1基因突变引起,视网膜母细胞瘤在40%的病例中是可遗传的,在这种情况下,80%的肿瘤是双侧的,单边占15%,和三边在5%的病例中。三边视网膜母细胞瘤是描述双侧视网膜母细胞瘤加上中线鞍上或松果体神经外胚层肿瘤的术语。具有种系RB1突变的患者有45%的机会患有视网膜母细胞瘤的后代。产前诊断很重要,因为倍增时间快,7到15天不等。因此,婴儿期的晚期诊断与较大的肿瘤和死亡风险增加有关,需要眼球摘除和视力丧失。我们报告了一例有风险的患者在妊娠32周时通过靶向高分辨率超声检查诊断为双侧视网膜母细胞瘤的病例。该报告证明了使用当前技术通过超声准确检测甚至微小的视网膜母细胞瘤的可行性。我们还回顾了迄今为止在产前发表的病例,并评论了超声和胎儿MRI在视网膜母细胞瘤产前诊断中的技术优势和局限性。
    Retinoblastoma is the prototypic genetic tumor. Caused by mutations in the RB1 gene, retinoblastomas are heritable in 40% of the cases and, in such cases, tumors are bilateral in 80%, unilateral in 15%, and trilateral in 5% of the cases. Trilateral retinoblastoma is a term that describes bilateral retinoblastomas plus a midline suprasellar or pineal neuroectodermal tumor. Patients with a germline RB1 mutation have 45% chance of having an offspring with retinoblastoma. Prenatal diagnosis is important because the doubling time is fast, ranging from 7 to 15 days. Thus, late diagnosis during infancy is associated with larger tumors and increased risk of death, need for globe enucleation and vision loss. We report a case of bilateral retinoblastomas diagnosed by targeted high-resolution ultrasonography of the orbits at 32 weeks of gestation in a patient at risk. This report demonstrates the feasibility of accurately detecting even tiny retinoblastomas by ultrasound with current technology. We also review prenatally published cases to date and comment on the technical strengths and limitations of ultrasound and fetal MRI for prenatal diagnosis of retinoblastomas.
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  • 文章类型: Journal Article
    Postnatal outcome in fetuses with congenital cytomegalovirus infection (cCMV) varies from asymptomatic infection to severe neurodevelopmental impairment. Αntenatal biomarkers of long-term clinical outcome, have yet to be established. Α systematic review and meta-analysis was performed to examine whether prenatal cerebral ultrasonography (US) and magnetic resonance imaging (MRI) findings in cCMV fetuses may predict clinical outcome.
    PubMed and the Web of Science were systematically searched to identify studies reporting on any prenatal US and/or MRI imaging of fetuses with cCMV as well as their postnatal clinical outcome. All reported associations between imaging and postnatal clinical outcome were systematically extracted. Where appropriate, the reported associations were quantitatively synthesized within Bayesian random-effects meta-analyses.
    A total of 1336 studies were screened to identify 26 eligible observational studies. Overall, 4181 fetuses were studied, of which 1518 had been diagnosed with cCMV. All studies performed fetal US while in 14 (54%) MRI was also performed. Studies substantially varied in timing of fetal imaging, reporting of abnormalities, definition of poor outcome and statistical analysis. Among studies reporting on statistical significance, 6/6 for US and 3/4 for MRI identified significant associations between imaging findings and outcome. In our meta-analyses, within isolated abnormalities, only microcephaly had greater than 95% probability of being associated with poor outcome (OR 26.7; 95% CI, 1.44-1464.5; I2, 19%). Effect sizes for US were higher than those for MRI findings.
    Although studies displayed significant heterogeneity in both methodology and analytical decisions, it became evident that when both prenatal cerebral US and MRI are normal the negative predictive value of poor outcome is high. This is important for clinicians when consulting pregnant women. Need to standardize practices and definitions become evident.
    There was no source of funding.
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  • 文章类型: Case Reports
    颅面重复是一种罕见的先天性异常。出现一例伴有副口腔的下颌半重复病例,并伴有首次报道的产前和产后MRI,手术方法和文献复习。MRI清楚地描绘了这种情况下的异位牙芽和腮腺发育不全,诊断部分面部重复的特征。MRI可诊断这种情况,并有助于避免面部肿块的误诊。
    Craniofacial duplication is a rare congenital anomaly. A case of hemi-mandibular duplication with an accessory oral cavity is presented with along with first-time reported pre- and postnatal MRI, surgical approach and a literature review. MRI clearly depicts the ectopic tooth buds and parotid aplasia in this condition, features that are diagnostic of partial facial duplication. MRI is diagnostic for this condition and can be useful to avoid misdiagnosis of a facial mass.
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  • 文章类型: Case Reports
    先天性脑肿瘤(CBT)极为罕见,仅占所有小儿脑肿瘤的0.5%-1.9%。髓质上皮瘤是罕见的肿瘤之一,在所有CBT中发病率约为1%,预后非常差,通常在24个月的中位年龄诊断。目的是报告在宫内时期出现的髓上皮瘤,在产前时期报告的病例很少。并增加关于髓鞘上皮瘤的现有文献。我们介绍了一种罕见的髓质上皮瘤病例,该病例在27周产前转诊给我们,随后导致子宫内胎儿死亡。胎儿大脑的产前MRI和尸检的出生后组织病理学结果提示颅内髓鞘上皮瘤。
    Congenital brain tumors (CBTs) are extremely rare and account for only 0.5%-1.9% of all pediatric brain tumors. Medulloepithelioma is one of the rare tumors with an incidence of about 1% among all CBTs with a very dismal prognosis and typically diagnosed at the median age of 24 months. The objective is reporting medulloepithelioma presenting in the intrauterine period with very few prior cases being reported in the prenatal period, and to add to the limited existing literature on medulloepithelioma. We present a rare case of medulloepithelioma referred to us in the antenatal period at 27 weeks and subsequently causing intrauterine fetal demise. Prenatal MRI of the fetal brain and postnatal histopathological findings on autopsy were suggestive of intracranial medulloepithelioma.
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