Article Sidebar

pdf
Date Published: 25/08/2023
Abstract Views: 171
Views pdf: 104
DOI: https://doi.org/10.51298/vmj.v529i1.6293
Issue
Vol. 529 No. 1 (2023)
Section
Các bài báo
How to Cite
Trương, T. V., Bùi, L. T., Võ , M. T., Đỗ, T. M. K., & Cao, H. T. (2023). PRENATAL DIAGNOSIS OF FETUSES WITH CONGENITAL HEART DISEASE AT TU DU HOSPITAL. Vietnam Medical Journal, 529(1). https://doi.org/10.51298/vmj.v529i1.6293

PRENATAL DIAGNOSIS OF FETUSES WITH CONGENITAL HEART DISEASE AT TU DU HOSPITAL

Thanh Vị Trương1, Lâm Thương Bùi1, Minh Tuấn Võ 1,, Thị Mỹ Khanh Đỗ2, Hữu Thịnh Cao3
1 University of Medicine and Pharmacy at Ho Chi Minh City
2 Tu Du Hospital
3 An Sinh Hospital

Main Article Content

Abstract

Background: Congenital heart disease is the most common class of major congenital defects. Prenatal diagnosis of congenital heart disease can provide the best possible medical care for pregnancy management, prognosis as well as more effective postpartum treatment plan. Objecttive: Our study aimed to investigate chromosomal abnormalities in fetuses with congenital heart disease and to identify the association of risk factors with chromosomal abnormalities. Methods: This was a retrospective study of 396 fetuses with congenital heart disease at Tu Du Hospital from June 2021 to April 2023, data collection by data collection sheet. Results: Our study found a detection rate for numberic chromosomal abnormalities (aneuploidy and mosaicism) of 25% [KTC 95%: 20.71% - 29.28%]in pregnancies (n=99). The detection rate for pathogenic copy number variants (pCNVs) was 9.47% [KTC 95%: 6.07% – 12.87%]. The related factors include: maternal age ≥ 35 years (OR*: 2.01[KTC 95%: 1.23%  – 3.28%]), multipara (OR*: 1.89 [KTC95%: 1.16%  – 3.09%]), congenital heart disease with extracardiac structural anomalies (OR*: 2.39 [KTC95%: 1.51%  – 3.76%]). Conclusion: When congenital heart disease is identified through prenatal screening by ultrasound, patients should be referred for genetic counseling and offered appropriate genetic testing. This can help optimize outcomes and postpartum intervention.

Article Details

Keywords

congenital heart disease, chromosomal abnormalities, copy number variants

References

1. Bùi Hải Nam, Danh Cường Trần (2018), "Bất thường nhiễm sắc thể trên thai nhi dị tật tim bẩm sinh (2018)", Tạp chí Phụ sản, 16, pp. 52-57.
2. Nhựt Thư Hương Trịnh (2015), Kết cục thai kỳ ở thai nhi có bất thường tim bẩm sinh vùng thân nón động mạch, Đại học Y Dược thành phố Hồ Chí Minh.
3. T. T. Hoang, E. Goldmuntz, A. E. Roberts, et al. (2018), "The Congenital Heart Disease Genetic Network Study: Cohort description", PLoS One, 13(1), pp. e0191319.
4. H. J. Mustafa, K. M. Jacobs, K. M. Tessier, et al. (2020), "Chromosomal microarray analysis in the investigation of prenatally diagnosed congenital heart disease", AJOG, 2(1), pp. 100078.
5. Y. Wang, L. Cao, D. Liang, et al. (2018), "Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study", AJOG, 218(2), pp. 244.e241-244.e217.
6. F. Gary Cunningham, Kenneth J. Leveno, Steven L. Bloom, et al. (2018), "Maternal Physiology", Williams Obstetrics, 25e, McGraw-Hill Education, New York, NY.
7. F. Mone, B. K. Stott, S. Hamilton, et al. (2021), "The Diagnostic Yield of Prenatal Genetic Technologies in Congenital Heart Disease: A Prospective Cohort Study", Fetal Diagn. Ther., 48(2), pp. 112-119.
8. Erin Rooney Riggs, Erica F. Andersen, Athena M. Cherry, et al. (2020), "Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)", Genetics in Medicine, 22(2), pp. 245-257.