Use of magnetic resonance imaging combined with gene analysis for the diagnosis of fetal congenital heart disease.

Background: Fetal deformity is a disease caused by abnormal chromosome structure, which may be influenced by genetic factors as well as the maternal and external environment. Magnetic resonance imaging (MRI) may be used to effectively diagnose fetus deformities. However it has been reported that gene analysis is a more accurate diagnostic method. The aim of the present study was to investigate the effectiveness of MRI in combination with gene analysis for the diagnosis of fetal congenital heart disease, a form of fetus deformity.

Methods: MRI, array comparative genome hybridization analysis and fluorescence in situ hybridization were used to analyze the effectiveness of the two methods in a total of 78 pregnant women with suspected fetal congenital heart disease.

Results: Our findings demonstrated that the combination of MRI and gene analysis resulted in significantly improved diagnostic accuracy, sensitivity and specificity for fetal congenital heart disease compared with either method alone. MRI combined with gene analysis confirmed 42 fetuses with pulmonary stenosis, 24 with aortic stenosis and 12 healthy fetuses, which was significantly improved compared with MRI or gene analysis alone. It was also observed that gene analysis was a more efficient method of diagnosis compared with MRI; however, the combination of the two methods was the most effective.

Conclusion: In conclusion, the results of the present study suggest that MRI combined with gene analysis may be a more effective diagnostic method for fetal congenital heart disease compared with the current protocol.