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通过 MRI 和超声联合检查进行小头畸形的产前诊断:病例系列分析。

Prenatal diagnosis of microcephaly through combined MRI and ultrasonography: Analysis of a case series.

机构信息

Department of Obstetrics, Tongde hospital of Zhejiang province, Hangzhou, China.

出版信息

Medicine (Baltimore). 2023 Dec 15;102(50):e36623. doi: 10.1097/MD.0000000000036623.

Abstract

INTRODUCTION

Intrauterine microcephaly is a complex and lifelong condition that poses significant ethical challenges for clinicians and parents. The prognosis of microcephaly is highly variable and depends on the underlying cause and severity. In addition, microcephaly is often associated with various comorbidities, including intellectual disability, developmental delay, and epilepsy. Ultrasonography (US) is currently the most commonly used imaging modality for detecting microcephaly in the second trimester of pregnancy. However, antenatal brain magnetic resonance imaging (MRI) is increasingly being used as a more sensitive tool to identify structural abnormalities that may suggest a specific diagnosis. In this study, we report a case series of microcephaly diagnosed through the combination of MRI and US.

PATIENT CONCERNS

How to utilize a combination of MRI and US to screen for fetal microcephaly.

DIAGNOSIS

Based on the results of US and MRI examinations, patient 1 was found to have other craniocerebral malformations, patient 2 demonstrated macrogyria, and patient 3 exhibited skull irregularities.

INTERVENTIONS

The pregnancies of all 3 patients were terminated through the induction of labor by injecting Rivanol into the amniotic cavity.

OUTCOMES

The 3 patients were discharged after a period of observation.

CONCLUSION

US is an important tool for diagnosing fetal microcephaly. However, MRI can overcome the limitations of US and detect additional brain structural abnormalities, thereby providing more specific and valuable prenatal diagnostic information. Therefore, combining MRI and US has significant diagnostic value for fetal microcephaly.

摘要

简介

宫内小头畸形是一种复杂且终身存在的疾病,给临床医生和家长带来了重大的伦理挑战。小头畸形的预后差异很大,取决于潜在病因和严重程度。此外,小头畸形常伴有各种合并症,包括智力障碍、发育迟缓、癫痫等。超声(US)目前是妊娠中期检测小头畸形最常用的影像学方法。然而,产前脑磁共振成像(MRI)作为一种更敏感的工具,越来越多地用于识别可能提示特定诊断的结构异常。在本研究中,我们报告了一组通过 MRI 和 US 联合诊断的小头畸形病例系列。

患者关注点

如何利用 MRI 和 US 联合筛查胎儿小头畸形。

诊断

根据 US 和 MRI 检查结果,患者 1 被发现存在其他颅面畸形,患者 2 表现为巨脑回,患者 3 表现为颅骨不规则。

干预措施

所有 3 例患者均通过向羊膜腔注射利凡诺尔引产。

结果

3 例患者观察一段时间后出院。

结论

US 是诊断胎儿小头畸形的重要工具。然而,MRI 可以克服 US 的局限性,检测到额外的脑结构异常,从而提供更具体和有价值的产前诊断信息。因此,MRI 和 US 的联合应用对胎儿小头畸形具有重要的诊断价值。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/679d/10727632/b1f9e4839fda/medi-102-e36623-g001.jpg

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