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胎儿磁共振成像在出生缺陷诊断中的应用
Application of fetal magnetic resonance imaging in diagnosis of birth defects
胎儿磁共振成像(fetal MRI)具有无电离辐射、软组织分辨率高等优点,可在出生缺陷产前评估中提供精细解剖结构及功能信息;其作为产前诊断高级影像学工具,已整合进产前诊断及胎儿医学的系统化诊疗流程。胎儿MRI的核心价值在于“协助诊断”,为复杂病例提供完善影像学资料,作为启动儿科多学科会诊(MDT)的重要依据,支持制定个体化的围产期管理方案,为出生缺陷的全生命周期管理提供重要支撑。
Fetal magnetic resonance imaging (fetal MRI) offers several distinct advantages,including the absence of ionizing radiation and high soft-tissue contrast resolution,which collectively enable precise anatomical delineation and functional assessment during prenatal evaluation of congenital anomalies. As an advanced prenatal imaging modality,fetal MRI has become an integral component of standardized diagnostic and therapeutic frameworks in prenatal diagnosis and fetal medicine. Its primary clinical value lies in its ability to “assist in diagnosis” decision by providing comprehensive imaging evidence in complex cases,serving as a critical basis for initiating multidisciplinary team (MDT) consultations in pediatrics,and facilitating the formulation of individualized perinatal management strategies. All of these provid significant support for the life-cycle management of birth defects.
fetal magnetic resonance imaging / prenatal diagnosis / birth defects / multidisciplinary collaboration
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This article provides the readers with practical guidance on how to perform fetal MR imaging, including technical considerations such as scanner field strength and use of appropriate radiofrequency receive coils, and summarizes the role, strengths, and limitations of the various MR imaging sequences. The authors review the various factors to consider in scan preparation, including study indication, timing, maternal preparation, and the creation of an institutional fetal imaging protocol. Additional factors that go into scan optimization during acquisition including prioritizing maternal comfort and ways to troubleshoot various artifacts that maybe encountered in fetal imaging are discussed.Copyright © 2024 Elsevier Inc. All rights reserved.
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中华医学会放射学分会儿科学组, 中华医学会儿科学分会放射学组. 胎儿MRI中国专家共识[J]. 中华放射学杂志, 2020, 54(12):1153-1161. DOI:10.3760/cma.j.cn112149-20200605-00779.
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宁刚. 胎儿MRI:出生缺陷产前影像学诊断的生力军[J/OL]. 中华妇幼临床医学杂志(电子版), 2021, 17(3):257-261. DOI:10.3877/cma.j.issn.1673-5250.
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Ultrasonography has been the mainstay of antenatal screening programmes in the UK for many years. Technical factors and physical limitations may result in suboptimal images that can lead to incorrect diagnoses and inaccurate counselling and prognostic information being given to parents. Previous studies suggest that the addition of in utero magnetic resonance imaging (iuMRI) may improve diagnostic accuracy for fetal brain abnormalities. These studies have limitations, including a lack of an outcome reference diagnosis (ORD), which means that improvements could not be assessed accurately.To assess the diagnostic impact, acceptability and cost consequence of iuMRI among fetuses with a suspected fetal brain abnormality.A pragmatic, prospective, multicentre, cohort study with a health economics analysis and a sociological substudy.Sixteen UK fetal medicine centres.Pregnant women aged ≥ 16 years carrying a fetus (at least 18 weeks' gestation) with a suspected brain abnormality detected on ultrasonography.Participants underwent iuMRI and the findings were reported to their referring fetal medicine clinician.Pregnancy outcome was followed up and an ORD from postnatal imaging or postmortem autopsy/imaging collected when available. Developmental data from the Bayley Scales of Infant Development and questionnaires were collected from the surviving infants aged 2-3 years. Data on the management of the pregnancy before and after the iuMRI were collected to inform the economic evaluation. Two surveys collected data on patient acceptability of iuMRI and qualitative interviews with participants and health professionals were undertaken.The primary analysis consisted of 570 fetuses. The absolute diagnostic accuracies of ultrasonography and iuMRI were 68% and 93%, respectively [a difference of 25%, 95% confidence interval (CI) 21% to 29%]. The difference between ultrasonography and iuMRI increased with gestational age. In the 18-23 weeks group, the figures were 70% for ultrasonography and 92% for iuMRI (difference of 23%, 95% CI 18% to 27%); in the ≥ 24 weeks group, the figures were 65% for ultrasonography and 94% for iuMRI (difference of 29%, 95% CI 23% to 36%). Patient acceptability was high, with at least 95% of respondents stating that they would have iuMRI again in a similar situation. Health professional interviews suggested that iuMRI was acceptable to clinicians and that iuMRI was useful as an adjunct to ultrasonography, but not as a replacement. Across a range of scenarios, iuMRI resulted in additional costs compared with ultrasonography alone. The additional cost was consistently < £600 per patient and the cost per management decision appropriately changed was always < £3000. There is potential for reporting bias from the referring clinicians on the diagnostic and prognostic outcomes. Lower than anticipated follow-up rates at 3 years of age were observed.iuMRI as an adjunct to ultrasonography significantly improves the diagnostic accuracy and confidence for the detection of fetal brain abnormalities. An evaluation of the use of iuMRI for cases of isolated microcephaly and the diagnosis of fetal spine abnormalities is recommended. Longer-term follow-up studies of children diagnosed with fetal brain abnormalities are required to fully assess the functional significance of the diagnoses.Current Controlled Trials ISRCTN27626961.This project was funded by the National Institute for Health Research (NIHR) Health Technology Assessment programme and will be published in full in ; Vol. 23, No. 49. See the NIHR Journals Library website for further project information.
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Prenatal ultrasonographic (US) examination is considered as the first tool in the assessment of fetal abnormalities. However, several large-scale studies point out that some malformations, in particular central nervous system (CNS) anomalies, are not well characterized through US. Therefore, the actual malformation severity is not always related to prenatal ultrasound (US) findings. Over the past 20 years, ultrafast Magnetic Resonance Imaging (MRI) has progressively increased as a prenatal 3rd level diagnostic technique with a good sensitivity, particularly for the study of fetal CNS malformations. In fact, CNS anomalies are the most common clinical indications for fetal MRI, representing about 80% of the total examinations. This review covers the recent literature on fetal brain MRI, with emphasis on techniques, safety and indications.Copyright © 2017 Elsevier B.V. All rights reserved.
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To identify brain edema in fetuses with Chiari II malformation using a multiparametric approach including structural T2-weighted, diffusion tensor imaging (DTI) metrics, and MRI-based radiomics.
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This review covers the embryology, definition, and diagnosis of open spinal dysraphism with a focus on fetal ultrasound and MR imaging findings. Differentiating open versus closed spinal dysraphic defects on fetal imaging will also be discussed. Current fetal surgery practices and imaging findings in the context of fetal surgery are also reviewed.Published by Elsevier Inc.
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ENSO Working Group. Role of prenatal magnetic resonance imaging in fetuses with isolated mild or moderate ventriculomegaly in the era of neurosonography:international multicenter study[J]. Ultrasound Obstet Gynecol, 2020, 56(3):340-347. DOI:10.1002/uog.21974.
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This systematic review aims to determine the diagnostic accuracy of fetal MRI for detecting cleft palate in fetuses at risk for orofacial clefts. Pubmed, Embase, and CINAHL were searched systematically. A diagnostic study was included if it performed MRI (index test) and postnatal examination (reference test) in fetuses at risk for orofacial clefts. Methodological quality was assessed using the QUADAS-2. A meta-analysis was performed with a random-effects model, calculating the pooled sensitivity, specificity, and area under the curve. The search resulted in eight studies (334 fetuses) to be included: four prospective and four retrospective studies. The applicability concern was low. There was, however, a risk of selection and information bias. All studies showed that MRI well predicted the chance of cleft palate. The sensitivity results were homogeneous, but heterogeneity was assumed regarding the specificity estimate (Cochrane's Q test: p = 0.00). The pooled sensitivity was 0.97 (95% CI 0.93-0.99); the pooled specificity was 0.94 (0.89-0.97). The area under the curve was 0.98 (95% CI 0.98-0.99).Conclusion: This meta-analysis shows that MRI has an excellent sensitivity and good to excellent specificity for diagnosing cleft palate in fetuses at risk for orofacial clefts. Future research should assess applicability for clinical care.What is Known:• Using ultrasound for prenatal detection of cleft palate leads to misdiagnosis frequently.• MRI could potentially improve the prenatal detection rate of cleft palate.What is New:• Eight studies describe the diagnostic accuracy of MRI for detecting cleft palate.• Combined results show excellent sensitivity and good to excellent specificity.
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In recent years, magnetic resonance imaging (MRI) has largely increased our knowledge and predictive accuracy of congenital diaphragmatic hernia (CDH) in the fetus. Thanks to its technical advantages, better anatomical definition, and superiority in fetal lung volume estimation, fetal MRI has been demonstrated to be superior to 2D and 3D ultrasound alone in CDH diagnosis and outcome prediction. This is of crucial importance for prenatal counseling, risk stratification, and decision-making approach. Furthermore, several quantitative and qualitative parameters can be evaluated simultaneously, which have been associated with survival, postnatal course severity, and long-term morbidity.Fetal MRI will further strengthen its role in the near future, but it is necessary to reach a consensus on indications, methodology, and data interpretation. In addition, it is required data integration from different imaging modalities and clinical courses, especially for predicting postnatal pulmonary hypertension. This would lead to a comprehensive prognostic assessment.• MRI plays a key role in evaluating the fetal lung in patients with CDH. • Prognostic assessment of CDH is challenging, and advanced imaging is crucial for a complete prenatal assessment and counseling.• Fetal MRI has strengthened its role over ultrasound due to its technical advantages, better anatomical definition, superior fetal lung volume estimation, and outcome prediction. • Imaging and clinical data integration is the most desirable strategy and may provide new MRI applications and future research opportunities.© 2022. The Author(s).
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Anomalies of the fetal chest require advanced imaging with ultrasound and MR imaging as well as expertise on the part of the interpreting pediatric radiologist. Congenital diaphragmatic hernia and congenital lung malformation are the most frequently seen, and in both conditions, the radiologist should provide both detailed anatomic description and measurement data for prognostication. This article provides a detailed approach to imaging the anatomy, in-depth explanation of available measurements and prognostic value, and keys to identifying candidates for fetal intervention. Less common congenital lung tumors and mediastinal and chest wall masses are also reviewed.Copyright © 2024 Elsevier Inc. All rights reserved.
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This Review depicts the evolving role of MRI in the diagnosis and prognostication of anomalies of the fetal body, here including head and neck, thorax, abdomen and spine. A review of the current literature on the latest developments in antenatal imaging for diagnosis and prognostication of congenital anomalies is coupled with illustrative cases in true radiological planes with viewable three-dimensional video models that show the potential of post-acquisition reconstruction protocols. We discuss the benefits and limitations of fetal MRI, from anomaly detection, to classification and prognostication, and defines the role of imaging in the decision to proceed to fetal intervention, across the breadth of included conditions. We also consider the current capabilities of ultrasound and explore how MRI and ultrasound can complement each other in the future of fetal imaging.Copyright © 2021 Elsevier Ltd. All rights reserved.
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Fetal MR imaging has been shown to be a useful tool for the diagnosis of fetal gastro-intestinal pathologies. To recognize the various pathologies, it is, however, essential to know the normal MR imaging appearance of the fetal bowel at various gestational ages. By providing additional information to ultrasound in case of a fetal gastrointestinal anomaly, MR imaging helps to improve planning for the delivery, postnatal management, and improves parental counseling.Copyright © 2024 Elsevier Inc. All rights reserved.
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Fetal MR imaging overcomes many of the technical barriers of ultrasound and is an important diagnostic tool for fetal genitourinary (GU) anomalies. It is suited for evaluation of GU anomalies because of the fluid-sensitive sequences and superior soft tissue contrast. Often GU malformations are part of a multisystem genetic or congenital condition, and imaging the entire fetus with MR adds additional clarity about the extent of disease. It adds confidence to diagnoses of renal agenesis, urinary tract dilation, cystic disease, and tumors. It is particularly useful to delineate anatomy in complex GU malformations. This additional information guides counseling.Copyright © 2024 Elsevier Inc. All rights reserved.
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The purpose of this study was to determine whether prenatal MRI provides additional information about fetal sacrococcygeal teratoma compared with prenatal sonography.Twenty-two pregnant women with fetal sacrococcygeal teratoma underwent prenatal MRI (mean gestational age, 23 weeks). The size, location, mass characteristics, and compressive effects of the tumors were determined and correlated with sonography and postnatal findings.Based on the MRI findings, the following American Academy of Pediatrics, Surgical Section classifications were assigned: type I in six patients, type II in 12, and type III in four. No type IV tumors were found. The sacrococcygeal teratoma appeared entirely cystic in five fetuses, microcystic in one, mixed cystic and solid in 12, and solid in four. The diagnosis of sacrococcygeal teratoma was accurate in all cases assessed at our center using both MRI and sonography. Two additional patients initially referred with the diagnosis of sacrococcygeal teratoma had a different diagnosis at reevaluation at our institution (healthy, n = 1; myelomeningocele, n = 1). MRI was superior to sonography for detecting displacement of the colon (n = 11), urinary tract dilatation (n = 9), hip dislocation (n = 4), intraspinal extension (n = 2), and vaginal dilation (n = 1). In fetuses with sacrococcygeal teratoma types II and III, MRI better showed the cephalic extent of the tumor compared with sonography. MRI findings were confirmed at surgery or autopsy in all patients. Three fetuses with high output cardiac physiology underwent open fetal resection of the tumor at 21-, 24-, and 26-weeks' gestational age with two surviving.Our results show that ultrafast fetal MRI is a useful adjunct to the prenatal evaluation of fetal sacrococcygeal teratoma. Compared with sonography, MRI more accurately characterized the intrapelvic and abdominal extent of the tumors and provided more information on compression of adjacent organs. The additional anatomic resolution provided by MRI resulted in more accurate prenatal counseling and improved preoperative planning for surgical resection.
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Fetal teratomas, though rare, represent a significant proportion of tumors arising during fetal development. These tumors arise from pluripotent cells and can present in varying degrees of severity, ranging from incidental findings to life-threatening conditions. Prenatal imaging, via ultrasound and MRI, is necessary for diagnosis and risk assessment. The management of fetal teratomas, particularly those associated with complications like hydrops or airway obstruction, often requires a multidisciplinary approach. Interventions such as ex-utero intrapartum treatment (EXIT) procedures and minimally invasive alternatives have emerged as critical tools to improve neonatal outcomes in severe cases. Despite advances in fetal therapies, careful prenatal monitoring and individualized management remain essential, especially for tumors with high vascularity or those that risk compromising cardiac output. This review explores the diagnostic methods, management strategies, and outcomes associated with fetal teratomas, highlighting recent advancements that contribute to improving survival and reducing morbidity in affected neonates.
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周翠香, 石苇, 詹岳伟, 等. 足月脑损伤新生儿不同程度宫内酸中毒危险因素分析[J]. 中国实用妇科与产科杂志, 2025, 41(5):565-568.DOI:10.19538/j.fk2025050118.
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| [25] |
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| [30] |
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| [31] |
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