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Abstract 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, and 0.922, 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 47XYY, 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.
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