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| Study of the application of color Doppler ultrasound and magnetic resonance imaging for screening congenital malformation of heart and the correlation between the fetal congenital malformation and their chromosomal abnormalities |
| 1. Suzhou Hospital of Integrated Traditional Chinese and Western Medicine, Jiangsu Province, 215101; 2. The First Affiliated Hospital of Soochow University |
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Abstract To analyze the value of color Doppler ultrasound and magnetic resonance imaging (MRI) for screening fetal congenital malformation of heart (CMH), and to explore the relationship between fetal CMH and their chromosomal abnormalities. Methods: 178 pregnant women with suspected fetal CMH by routine twodimensional ultrasound examination during prenatal examination were selected from January 2017 to January 2021. These women had accepted further color ultrasound examination, MRI examination, and the umbilical cord puncture for chromosome examination, respectively. Follow-up was conducted to compare the accuracy of color ultrasound and MRI examinations. The fetal karyotypes of chromosomal abnormalities were counted and the situation of chromosomal abnormalities of fetuses with CMH was analyzed. Results: 178 fetuses with suspected CMH were confirmed by delivery, autopsy, or operation. There were 145 (81.5%) fetuses diagnosed with CMH, 21 (11.8%) cases with diaphragmatic hernia, and 12 (6.7%) cases with pleural effusion. There was no significant difference in the diagnostic rate (79.2%, 141 cases vs. 80.3%, 143 cases) between the examinations of color ultrasonography and MRI (P=0.792). There were 41 (23.0%) cases with chromosomal abnormalities, which included 36 (20.2%) cases with chromosomal number abnormalities and 5 (2.8%) cases with chromosomal structure abnormalities. Among the 41 fetuses with chromosomal abnormalities, there were 29 cases with CMH, 12 cases with diaphragmatic hernia or pleural effusion. When chromosomal karyotype abnormality was included in the regression analysis equation of the influencing factors of fetal CMH, the chromosomal abnormality was an independent risk factor of fetal malformation (OR=2.286, P=0.048), and the fetal chromosomal abnormality was correlated with the fetal malformation (r=-0.151, P=0.044). Conclusion: Both color Doppler ultrasound and MRI have ideal screening efficacy for fetal CMH. The fetal CMH is related to their chromosomal abnormalities, and improving chromosomal karyotype screening efficiency can further improve the diagnosis rate of fetal CMH.
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