Abstract：Objective To analyze the copy number variation (CNV) of fetal genome in congenital heart disease (CHD) by using copy number variation sequencing (CNV Seq), and to explore the application value of CNV SEQ in prenatal genetic diagnosis of CHD. Methods A total of 87 pregnant women with fetal congenital heart disease diagnosed by prenatal ultrasound in Liuzhou Maternal and Child Health Care Hospital of Guangxi Province from January 2017 to December 2017 were selected for interventional prenatal diagnosis. At the same time, traditional karyotype analysis and CNV SEQ technology analysis were carried out. The related CNV was searched in the corresponding database to analyze the relationship between CNV phenotype and genotype. Results 18 cases of the chromosomal aberrations were detected, the detection rate was 20.7%, among which 12.6% (11/87) were detected by traditional karyotype analysis, 17.2% (15/87) by CNV SEQ technology, 8 cases (9.2%) showed normal by traditional karyotype analysis while, it showed abnormal by CNV-seq. Conclusion CNV-seq technology can be used to detect and recognize the chromosomal aberration of fetal CHD submicroscopic structure, find new potential pathogenic CNV, and can be used as an effective complementary means of traditional karyotype analysis.
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