| Objective: To investigate the application value of CNVs detection in congenital heart disease through the detection of copy number variations(CNVs)of fetuses with abnormal heart conditions,and to follow up the pregnancy outcome of fetuses with congenital heart disease and to explore the impact The related factors of fetal pregnancy outcome of congenital heart disease provide reference for clinical consultation of congenital heart disease.Methods: This study adopted a retrospective analysis method.(1)Selected from January 2016 to December 2019 in the People’s Hospital of Guangxi Zhuang Autonomous Region,a total of 554 cases of abnormal fetal heart development were detected by ultrasound,of which 105 cases were tested for CNVs.The experimental group was divided into 3 groups:a single cardiac abnormality group,a multiple cardiac abnormality group,a cardiac abnormality combined with an extracardiac abnormality group,and a control group without ultrasound abnormality was 210 cases.Classification and statistics of CNVs and chromosome karyotype results of each group;(2)A total of 263 cases with NT results out of 554 cases were grouped according to the thickness of NT and divided into three groups of <2.5mm,2.5～3.5mm,and ≥3.5mm,At the same time,the single heart abnormality group,multiple heart abnormalities group,single heart abnormality combined with extracardiac abnormalities and multiple heart abnormalities combined with extracardiac abnormalities were compared.At the same time,there were a total of 89 cases with NT results and CNVs detection.The NT results were divided into three groups of <2.5mm,2.5～3.5mm,and ≥ 3.5mm,and CNVs were normal,polymorphism/unknown,pathogenic/probably pathogenic.Comparison;(3)Collection of ultrasound showed that there were 246 cases with no serious extracardiac malformations,of which 105 cases were only vascular variants without hemodynamic disorders,and 141 cases had obvious cardiac abnormalities.The pregnancy outcome and age of pregnant women were understood through telephone follow-up and case inquiry,Pregnancy and parity,education level,residential area,monthly income,etc.,and analyze related factors affecting pregnancy outcome.Results:(1)Among 105 cases of abnormal fetal heart development,32 cases(30.5%)of CNVs were detected,a total of 18 cases(17.1%)of CNVs were pathogenic and possibly pathogenic,and 63 cases of single cardiac abnormality were not caused.Pathological CNVs were detected;9 cases of multiple cardiac abnormalities,3 cases(33.3%)of CNVs causing disease and possible disease,the detection rate of cardiac abnormalities combined with extracardiac abnormalities CNVs was significantly higher than other simple cardiac abnormalities group,the difference was statistical Significance(P<0.017).Except for the single cardiac abnormality group and the control group,the difference was not statistically significant(P>0.017).The pathogenic detection rate of CNVs in the other two groups was higher than that of the control group and the difference was statistically significant(P< 0.017);(2)Compared with the control group,the detection rate of single cardiac abnormality and multiple cardiac abnormalities was not statistically significant(P>0.017),and cardiac abnormalities combined with extracardiac abnormalities were statistically significant compared with the control group(P< 0.017),the detection rate of abnormal chromosomal karyotype was higher than that of the control group;(3)Compared with the control group,the abnormal karyotype of CNVs was detected in the cardiac abnormality group with normal karyotype,the difference was statistically significant(P<0.05);(4)There was no statistically significant difference between the single heart abnormality group with NT thickening and the multiple heart abnormality group(P>0.05),but the difference between multiple heart abnormalities combined with extracardiac abnormalities and single heart abnormality combined with extracardiac abnormalities was statistically significant(P <0.05),and the detection rate of CNVs with cardiac abnormalities and NT thickening is higher,and the difference is statistically significant(P<0.05);(5)The prognosis of CHD is related to the choice of pregnancy outcome,and the prognosis is III Grade II and Grade IV are 25.067 times and 50.122 times more likely to induce labor than Grade II.Conclusion:(1)Cardiac abnormalities are positively correlated with NT thickening and CNVs detection rate.CNVs detection is complementary to chromosome karyotype analysis;when ultrasound indicates fetal heart abnormalities,it is recommended to perform chromosome karyotype and CNVs detection,especially for CHD combined with heart Fetuses with external deformities or combined with NT thickening.(2)The main factor affecting the outcome of pregnancy is the degree of fetal heart malformation.The prognosis assessment of II-III CHD fetuses should be combined with multidisciplinary diagnosis and treatment to avoid the loss of curable CHD fetuses. |
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