超声、磁共振成像及染色体检查在胸腹部异常胎儿筛查中的应用价值

周成礼

doi:10.13406/j.cnki.cyxb.002650

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超声、磁共振成像及染色体检查在胸腹部异常胎儿筛查中的应用价值

基础研究临床研究 | 更新时间：2024-01-09

- 超声、磁共振成像及染色体检查在胸腹部异常胎儿筛查中的应用价值
- Application of ultrasound, magnetic resonance imaging and chromosome examination in the screening of fetus with chest and abdomen abnormalities
- 重庆医科大学学报 2021年46卷第8期页码：977-982
- 作者机构：
  
  深圳市妇幼保健院超声科,深圳,518028
- 作者简介：
- 基金信息：
- DOI：10.13406/j.cnki.cyxb.002650
  中图分类号： R714.5;R445.1;R445.2
- 纸质出版日期：2021，
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周成礼. 超声、磁共振成像及染色体检查在胸腹部异常胎儿筛查中的应用价值[J]. 重庆医科大学学报, 2021,46(8):977-982.

Zhou Chengli. Application of ultrasound, magnetic resonance imaging and chromosome examination in the screening of fetus with chest and abdomen abnormalities[J]. Journal of Chongqing Medical University, 2021,46(8):977-982.
周成礼. 超声、磁共振成像及染色体检查在胸腹部异常胎儿筛查中的应用价值[J]. 重庆医科大学学报, 2021,46(8):977-982. DOI： 10.13406/j.cnki.cyxb.002650.

Zhou Chengli. Application of ultrasound, magnetic resonance imaging and chromosome examination in the screening of fetus with chest and abdomen abnormalities[J]. Journal of Chongqing Medical University, 2021,46(8):977-982. DOI： 10.13406/j.cnki.cyxb.002650.

摘要

目的：评价超声（ultrasound，US）联合磁共振成像（magnetic resonance imaging，MRI）诊断胎儿胸腹部异常的价值。提出并探讨以染色体检查结果为基础的结构畸形评分（structural malformation score，SMS）的临床意义。方法：通过对2016年3月至2019年9月经US和MRI检查且符合纳入标准的77例胎儿进行回顾性研究，探讨US和MRI联合应用指征，计算US、MRI及US联合MRI检查的敏感性、特异性、阳性预测值、阴性预测值。采用受试者操作特征（receiver operating characteristics，ROC）曲线分析US、MRI联合诊断胎儿胸腹部异常的价值。通过计算染色体阳性病例百分率对胎儿胸腹部结构畸形进行风险等级评估。结果： ①鉴别诊断和US应用的局限性是增加MRI联合检查的主要原因。②77例受检孕妇经随访证实正常胎儿（阴性）27例（35.1%）、异常胎儿（阳性）50例（64.9%）。US检出阴性25例（32.5%）、阳性52例（67.5%）；MRI检出阴性28例（36.4%）、阳性49例（63.6%）。US联合MRI诊断的敏感性、特异性、阳性预测值、阴性预测分别为96.0%、92.6%、96.0%、92.6%，明显高于单一US或单一MRI检查。US诊断的ROC曲线下面积（area under the ROC curve，AUC）为0.792，MRI诊断的AUC为0.819，US联合MRI诊断的AUC为0.943。联合方案与单一US和单一MRI两两比较，差异有统计学意义（Z=2.23，P=0.026；Z=1.97，P=0.049）。③根据染色体阳性病例百分率将SMS分为5个评分等级，即0≤1分﹤25%，25%≤2分﹤50%，50%≤3分﹤75%，75%≤4分﹤100%，100%评为5分。当4分≤SMS﹤10分时，建议临床进行染色体或基因检测，当SMS≥10分时，建议临床必要时终止妊娠。结论： US、MRI联合诊断胎儿胸腹部异常的效能最优。准确的诊断和精确的评分对临床决策具有重要指导作用。

Abstract

Objective: To evaluate the value of ultrasound (US) combined with magnetic resonance imaging (MRI) in diagnosing fetal chest and abdomen abnormalities. To propose and discuss the clinical significance of structural malformation score (SMS) based on chromosome examination results. Methods: A retrospective study was conducted on 77 fetuses who were examined by US and MRI from March 2016 to September 2019 and met the inclusion criteria. The indications of US combined with MRI were discussed

and the sensitivity

specificity

positive predictive value and negative predictive value of ultrasound

MRI and ultrasound combined with MRI were calculated. The receiver operating characteristics (ROC) curve was used to analyze the value of ultrasound and MRI physicians in the diagnosis of fetal chest and abdomen abnormalities. According to the chromosome results

the SMS for the chest and abdomen of the fetus was determined by the percentage of chromosomal positive cases. Results: ①The limitation of ultrasound application was the main reason for increasing MRI examination.②Follow-up of 77 pregnant women showed normal (negative) fetuses in 27 cases (35.1%) and abnormal (positive) fetuses in 50 cases (64.9%)

25 cases (32.5%) were negative and 52 cases (67.5%) were positive for US

and 28 cases (36.4%) were negative and 49 cases (63.6%) were positive for MRI. The sensitivity

specificity

positive predictive value

and negative predictive value of US combined with MRI were 96.0%

92.6%

96.0%and 92.6%

respectively

which were significantly higher than those of US alone and MRI alone. The area under the ROC curve (AUC) for US diagnosis was 0.792

the AUC for MRI diagnosis was 0.819

and AUC for US combined MRI diagnosis was 0.943. Compared with single US and single MRI

the difference was statistically significant (Z=2.23

P=0.026; Z=1.97

P=0.049). ③According to the calculation of the positive percentage of chromosome

SMS was divided into 5 grades

namely 0≤1 score<25%

25%≤2 scores<50%

50%≤3 scores<75%

75%≤4 scores<100%

and 100%=5 scores. When 4 scores≤SMS<10 scores

clinical chromosome or gene testing was recommended

and when SMS≥10 scores

termination of pregnancy was recommended if clinically necessary. Conclusion: Joint diagnosis of ultrasound and MRI has the highest comprehensive diagnosing efficiency

and precise diagnosis and accurate assessment scoring play an important role in guiding clinical decision-making.

关键词

超声磁共振成像胎儿胸腹部异常染色体检查

Keywords

ultrasoundmagnetic resonance imagingfetuschest and abdomen abnormalitychromosome examination

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