核磁共振联合四维超声在胎儿心脏畸形筛查效果

The application value of magnetic resonance imaging combined with four-dimensional ultrasound for screening fetal heart malformation

目的:探讨核磁共振(MRI)联合四维超声在胎儿心脏畸形筛查中应用价值。方法:选取2017年2月—2020年2月本院就诊的103例胎儿心脏畸形可疑孕妇的临床资料进行回顾性分析,均产前行MRI及四维超声检查,以出生后随访结果或尸检结果为金标准确诊为心脏畸形共48例。对比阳性预测值、阴性预测值及准确率,对48例确诊为心脏畸形胎儿行染色体核型分析。结果:103例胎儿心脏畸形可疑孕妇,经四维超声检测,阳性预测值为87.0%,阴性预测值86.0%,诊断符合率86.4%;MRI检测,阳性预测值78.3%,阴性预测值为79.0%,诊断符合率78.6%;二者联合检测,阳性预测值91.7%,阴性预测值92.7%,诊断符合率92.2%。3种方法的阳性预测值、阴性预测值比较无差异(P>0.05),准确率比较有差异(P<0.05);48例心脏畸形胎儿中,四维超声检测40例,MRI检测共36例,两项联合检测44例。四维超声、MRI及二者联合诊断胎儿心脏畸形的曲线下面积分别为0.862、0.784、0.922(P<0.05),敏感度分别为83.3%、75.0%、91.7%,特异度分别为89.1%、81.8%、92.7%。48例心脏畸形胎儿中18-三体15例、13-三体5例、正常核型4例、18-三体5例、47XYY 7例、XO综合征4例、21-三体8例。结论:MRI联合四维超声筛查胎儿心脏畸形可提高检测准确率;胎儿心脏畸形发生中染色体异常占比较高。

Objective:To explore the application value of magnetic resonance imaging(MRI)combined with four-dimensional ultrasound for screening fetal heart malformation.Methods:The clinical data of 103 pregnant women with suspected fetal heart malformation from February 2017 to February 2020 were selected for analysis retrospectively.MRI and four-dimensional ultrasonography examinations were performed in all of these women before delivery,and 48 newborns with heart malformation were confirmed by the results of follow up after birth or autopsy as the gold standard.The positive predictive value,the negative predictive value,and the accuracy rate of the diagnosis of heart malformation of newborns were compared between MRI and ultrasonography.The chromosome karyotype analyses of 48 newborns with heart malformation was performed.Results:As for 103 pregnant women with suspicious fetal heart malformation,the positive predictive value,the negative predictive value,and the diagnostic accordance rate of the four-dimensional ultrasonography for diagnosing the fetal heart malformation were 87.0%,86.0%,and 86.4%respectively.The positive predictive value,the negative predictive value,and the diagnostic accordance rate of MRI for diagnosing the fetal heart malformation were 78.3%,79.0%,and 78.6%,respectively.The positive predictive value,the negative predictive value,and the diagnostic accordance rate of four-dimensional ultrasonography combined with MRI for diagnosing the fetal heart malformation were 91.7%,92.7%,and 92.2%,respectively.There were no significant differences in the positive predictive value and the negative predictive value among four-dimensional ultrasonography,MRI,and four-dimensional ultrasonography combined with MRI(P>0.05),but there was significant difference in the diagnostic accordance rate among them(P<0.05).In 48 women with fetal heart malformation,40 cases were found by four-dimensional ultrasonography,36 cases were found by MRI,and 44 cases were found by four-dimensional ultrasonography combined with MRI.The area under the curve of four-dimensional ultrasonography,MRI,and fourdimensional ultrasonography combined with MRI for diagnosing fetal heart malformation were 0.862,0.784,and0.922,respectively(P<0.05),the sensitivity of which were 83.3%,75.0%,and 91.7%,respectively,and the specificity of which were 89.1%,81.8%,and 92.7%,respectively.In 48 cases of fetal heart malformation,there were 15 cases with trisomy 18,5 cases with trisomy 13,4 cases with normal karyotype,7 cases with 47 XYY,4 cases with XO syndrome,and 8 cases with trisomy 21.Conclusion:MRI combined with four-dimensional ultrasound for screening fetal heart malformation is beneficial to improve the accuracy.The proportion of chromosomal abnormalities of the fetus with heart malformations is higher.