The value of prenatal ultrasound combined with magnetic resonance imaging in the diagnosis of fetal cardiac rhabdomyoma and tuberous sclerosis complex

YANG Yu; CHEN Ping; YE Baoying; SUN Taotao; NIU Jianmei; ZHOU Leiping; WANG Hui; SHI Liye; CHEN Jiong nbsp

doi:10.19732/j.cnki.2096-6210.2024.02.012

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The value of prenatal ultrasound combined with magnetic resonance imaging in the diagnosis of fetal cardiac rhabdomyoma and tuberous sclerosis complex

更新时间：2025-12-15

- The value of prenatal ultrasound combined with magnetic resonance imaging in the diagnosis of fetal cardiac rhabdomyoma and tuberous sclerosis complex
- Vol. 33, Issue 2, Pages: 174-179(2024)
- 作者机构：
  
  1. 上海交通大学医学院附属国际和平妇幼保健院超声科，上海市胚胎源性疾病重点实验室,上海,200030
  2. 上海交通大学医学院附属国际和平妇幼保健院放射科，上海市胚胎源性疾病重点实验室,上海,200030
- 作者简介：
- 基金信息：
- DOI：10.19732/j.cnki.2096-6210.2024.02.012
  CLC：
- Published Online：13 May 2024，
  
  Published：13 May 2024
- 稿件说明：
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杨钰,陈萍,叶宝英,等. 产前超声联合MRI对胎儿心脏横纹肌瘤及结节性硬化症的诊断价值[J]. 肿瘤影像学, 2024, 33(2): 174-179 https://doi.

org/10.19732/j.cnki.2096-6210.2024.02.012
杨钰,陈萍,叶宝英,等. 产前超声联合MRI对胎儿心脏横纹肌瘤及结节性硬化症的诊断价值[J]. 肿瘤影像学, 2024, 33(2): 174-179 https://doi. DOI： 10.19732/j.cnki.2096-6210.2024.02.012.

org/10.19732/j.cnki.2096-6210.2024.02.012 DOI：

摘要

目的：

探讨产前超声联合磁共振成像（magnetic resonance imaging，MRI）对胎儿心脏横纹肌瘤（cardiac rhabdomyoma，CR）及结节性硬化症（tuberous sclerosis complex，TSC）的诊断价值。

方法：

回顾并分析2010年1月—2022年10月上海交通大学医学院附属国际和平妇幼保健院经产前超声诊断及疑似胎儿CR的临床资料和影像学特征。

结果：

经产前超声检查共诊断或疑似胎儿CR 41例，均为单胎。同时行MRI检查者30例（73.2%），其中11例诊断为单纯性CR（36.7%），16例（53.3%）CR合并颅内TSC，3例MRI未发现胎儿心脏占位性病变，其中1例出生后心脏超声证实为肥大肌束，1例新生儿心脏超声检查正常，1例失访。41例中12例在产前进一步行染色体核型分析及全外显子组测序（whole exome sequencing，WES），4例发现异常，3例基因检测证实TSC基因突变。

结论：

产前超声是CR的首选检查方法，对CR的检出及诊断具有重要价值。而超声联合MRI可进一步提高CR的诊断准确度和TSC检出率，结合染色体核型及TSC相关基因检测，可更好地提供产前诊断咨询及预后评估。

Abstract

Objective:

To investigate the diagnostic value of prenatal ultrasound combined with magnetic resonance imaging (MRI) in fetal cardiac rhabdomyoma (CR) and tuberous sclerosis complex (TSC).

Methods:

Retrospectively analyzed the clinical data

ultrasound and MRI imaging features of prenatal ultrasound diagnosed and suspected fetal CR in The International Peace Maternity

Shanghai Jiao Tong University Sc

hool of Medicine and Child Health Hospital from January 2010 to October 2022.

Results:

A total of 41 cases of fetal CR were diagnosed or suspected by prenatal ultrasonography

all of which were singletons. At the same time

30 cases (73.2%) underwent MRI examination

of which 11 cases (36.7%) were diagnosed as simple CR

16 cases (53.3%) were combined with intracranial TSC. At the same time

3 cases of MRI did not find fetal cardiac mass

of which 1 case was confirmed as hypertrophic muscle bundle by echocardiography after birth

1 case of neonatal echocardiography was normal

and 1 case was lost to follow-up. Among the 41 cases

12 cases underwent further prenatal karyotype analysis and whole exome sequencing (WES)

4 cases were found to be abnormal

and 3 cases were confirmed to have TSC gene mutation by gene detection.

Conclusion:

Prenatal ultrasound is the first choice for CR

which is of great value in the detection and diagnosis of CR. Ultrasound combined with MRI can further improve the diagnostic accuracy of CR and the detection rate of TSC. Combined with chromosome karyotype and TSC related gene detection

it can provide better prenatal diagnosis consultation and prognosis evaluation.

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