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胎儿神经影像学在脑畸形的诊断和咨询中的应用:当前实践和未来的诊断策略。

Fetal neuroimaging applications for diagnosis and counseling of brain anomalies: Current practice and future diagnostic strategies.

机构信息

Pediatric Neurology, Pediatrics, Hasbro Children's Hospital, The Warren Alpert Medical School of Brown University, Providence, RI, USA.

Maternal Fetal Medicine, Obstetrics and Gynecology, Women & Infants Hospital of Rhode Island, The Warren Alpert Medical School of Brown University, Providence, RI, USA.

出版信息

Semin Fetal Neonatal Med. 2024 Feb;29(1):101525. doi: 10.1016/j.siny.2024.101525. Epub 2024 Apr 10.

Abstract

Advances in fetal brain neuroimaging, especially fetal neurosonography and brain magnetic resonance imaging (MRI), allow safe and accurate anatomical assessments of fetal brain structures that serve as a foundation for prenatal diagnosis and counseling regarding fetal brain anomalies. Fetal neurosonography strategically assesses fetal brain anomalies suspected by screening ultrasound. Fetal brain MRI has unique technological features that overcome the anatomical limits of smaller fetal brain size and the unpredictable variable of intrauterine motion artifact. Recent studies of fetal brain MRI provide evidence of improved diagnostic and prognostic accuracy, beginning with prenatal diagnosis. Despite technological advances over the last several decades, the combined use of different qualitative structural biomarkers has limitations in providing an accurate prognosis. Quantitative analyses of fetal brain MRIs offer measurable imaging biomarkers that will more accurately associate with clinical outcomes. First-trimester ultrasound opens new opportunities for risk assessment and fetal brain anomaly diagnosis at the earliest time in pregnancy. This review includes a case vignette to illustrate how fetal brain MRI results interpreted by the fetal neurologist can improve diagnostic perspectives. The strength and limitations of conventional ultrasound and fetal brain MRI will be compared with recent research advances in quantitative methods to better correlate fetal neuroimaging biomarkers of neuropathology to predict functional childhood deficits. Discussion of these fetal sonogram and brain MRI advances will highlight the need for further interdisciplinary collaboration using complementary skills to continue improving clinical decision-making following precision medicine principles.

摘要

胎儿脑神经影像学的进展,尤其是胎儿神经超声和脑磁共振成像(MRI),使得对胎儿脑结构进行安全、准确的解剖评估成为可能,为产前诊断和胎儿脑异常的咨询提供了基础。胎儿神经超声有策略地评估了筛查超声怀疑的胎儿脑异常。胎儿脑 MRI 具有独特的技术特点,可以克服胎儿大脑较小的解剖学限制和宫内运动伪影的不可预测的变化。最近的胎儿脑 MRI 研究提供了证据,证明产前诊断开始时,诊断和预后的准确性有所提高。尽管过去几十年技术有所进步,但不同定性结构生物标志物的联合使用在提供准确预后方面存在局限性。胎儿脑 MRI 的定量分析提供了可测量的成像生物标志物,将更准确地与临床结果相关联。第一孕期超声为妊娠早期进行风险评估和胎儿脑异常诊断提供了新的机会。这篇综述包括一个病例描述,说明胎儿神经科医生解读的胎儿脑 MRI 结果如何改善诊断视角。将比较传统超声和胎儿脑 MRI 的优缺点与最近的定量方法研究进展,以便更好地将神经病理学的胎儿神经影像学生物标志物与预测儿童期功能缺陷相关联。讨论这些胎儿超声和脑 MRI 的进展将突出强调需要进一步进行跨学科合作,利用互补技能,根据精准医学原则继续改善临床决策。

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本文引用的文献

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Fetal Neurology Practice Survey: Current Practice and the Future Directions.胎儿神经学实践调查:当前实践与未来方向
Pediatr Neurol. 2023 Aug;145:74-79. doi: 10.1016/j.pediatrneurol.2023.04.016. Epub 2023 Apr 25.
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Outcome of Agenesis of the Corpus Callosum Diagnosed by Fetal MRI.胼胝体发育不全的胎儿 MRI 诊断结果。
Pediatr Neurol. 2022 Oct;135:44-51. doi: 10.1016/j.pediatrneurol.2022.07.007. Epub 2022 Jul 19.

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