|
|
|
| Clinical application of chromosal analysis microarray technology of fetus with congenital heart disease and extracardiac malformation screened by ultrasonic STIC technology in prenatal diagnosis |
| Panjin Liao Oil Baoshihua Hospital, Panjin, Liaoning Province, 124010 |
|
|
|
|
Abstract To explore the clinical application of chromosomal analysis microarray(CAM) technology for fetus with congenital heart disease(CHD) and extracardiac malformation screened by ultrasonic STIC technology in the prenatal diagnosis. Methods: 380 high-risk pregnant women with fetal heart examination were selected as the study subjects from January 2020 to January 2021. The situation of fetal CHD was screened by two-dimensional ultrasound and ultrasonic STIC technology, and which was compared with the results of anatomical pathology and postpartum follow-up for analyzing the accuracy of two-dimensional ultrasound and ultrasonic STIC technology. The detections of pathogenic chromosome copy number variation(CNV) of the fetus with CHD and extra-cardiac malformation were compared by between CAM technology and ultrasonic STIC technology, and their clinical values were analyzed. Results: Among 380 highrisk pregnant women, 104 fetuses with CHD were detected, and a total of 301 cardiac structural abnormalities were found. The anatomical pathology and postpartum follow-up results were as the gold standard, the sensitivity and the specificity of two-dimensional ultrasound for diagnosing fetal CHD were 91.4% and 98.9%, and the sensitivity and the specificity of ultrasonic STIC for diagnosing fetal CHD were 96.2% and 99.3%, and the two kinds of ultrasonic technology for diagnosing fetal CHD had good consistency(Kappa=0.919, 0.960). There were no significant differences in the coincidence rate, the missed detection rate, and the misdiagnosis rate for diagnosing fetal CHD between the two kinds of ultrasonic technology(P>0.05), but there was significant difference in the coincidence rate for diagnosing fetal cardiac structural abnormalities(χ2=61.499, P<0.05). Among 100 fetal CHD with abnormal karyotype analysis, there were 66(66.0%) fetuses with single type CHD and 34(34.0%) fetuses with complex type CHD. Among the fetuses with complex type CHD, there were 23(23.0%) fetuses with CHD and extracardiac malformation, 15(15.0%) fetuses with single CHD and extracardiac malformation, and 6 fetuses with pathogenic CNV. In the fetuses with complex type CHD, there were 8(8.0%) fetuses with CHD combined with extracardiac malformation and without pathogenic CNV. In the fetuses with single type CHD, there were 77(77.0%) CHD fetuses with without extracardiac malformation, 51(51.0%) CHD fetuses without extracardiac malformation, and 6 fetuses with pathogenic CNV. In the 26(26.0%) fetuses with complex type CHD and extracardiac malformation, there were 5 fetuses with pathogenic CNV. Conclusion: Ultrasonic STIC technology has good diagnostic value for fetal CHD and extracardiac abnormalities during prenatal diagnosis, and CMA technique has good detectable rate for chromosome microduplication and microdeletion.
|
|
|
|
|
|
|
|
|
