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Date Published: 11/12/2023
Abstract Views: 168
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DOI: https://doi.org/10.51298/vmj.v532i2.7594
Issue
Vol. 532 No. 2 (2023)
Section
Các bài báo
How to Cite
Hoàng, T. N. L., Trần, D. C., Đoàn, T. K. P., Lê, P. T., Phan, T. T. G., Đặng, A. L., Ngô, T. T. N., Nguyễn, H. A., Lê, T. G., Bùi, Đức T., Nguyễn, T. H. L., & Phạm, M. Đức. (2023). APPLYING SNP ARRAY TECHNIQUE TO DETECT GENETIC ABNORMALITIES OF FETUS WITH CARDIOVASCULAR ABNORMALITIES ON ULTRASOUND. Vietnam Medical Journal, 532(2). https://doi.org/10.51298/vmj.v532i2.7594

APPLYING SNP ARRAY TECHNIQUE TO DETECT GENETIC ABNORMALITIES OF FETUS WITH CARDIOVASCULAR ABNORMALITIES ON ULTRASOUND

Thị Ngọc Lan Hoàng1,2,, Danh Cường Trần1,2, Thị Kim Phượng Đoàn1,2, Phương Thảo Lê1, Thị Thu Giang Phan1, Anh Linh Đặng1, Thị Tuyết Nhung Ngô1, Hoàng Anh Nguyễn1, Thị Giang Lê1, Đức Thắng Bùi1, Thị Huyền Linh Nguyễn1, Minh Đức Phạm2
1 Central maternity hospital
2 HMU

Main Article Content

Abstract

Objectives: analysis of the genetic obnormalities of fetuses with echo-cardiographic abnormalities by SNP array. Materials and methods: A cross- sectional descriptive study on 62 fetuses with cardiovascular malformations on ultrasound underwent amniocentesis, during the period from 10/2022 to 6/2023, performed at the Center for Prenatal Diagnosis of the National Hospital of Obstetrics and


 


 


 


Gynecology. Results: SNP array detected 13/62 (21.0%) fetus with pathogenic copy number variations (CNVs), 2/62 (3.2%) fetus with variants of unknown significane (VOUS) and 4/62 (6.5%) fetus with benign CNVs. Pathogenic CNVs was detected with the highest rate in the group of multiple malformations with cardiovascular abnormalities (31.6%), the rate in the group cardiovascular abnormalities (18.5%), the lowest rate was in the group of isolated heart defects (7.6%). The detection rate of chromosomal abnormalities of SNP array is higher than that of karyotyping (21.0% compare to 6.5%) with statistical significance (p < 0.05). Conclusion: SNP array increases the overall detection of pathogenic CNVs by 14.5% compare to karyotyping, which improves the detections associated with congenital heart disease (CHD). SNP array is an effective prenatal diagnosis technique for fetuses with cardiovascular abnormalities and provides valuable insights for fetal prognosis, making prenatal counseling more effective.

Article Details

Keywords

SNP array, congenital heart disease, copy number variation (CNV), chromosomal abnormalities, karyotyping.

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