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Date Published: 20/12/2024
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DOI: https://doi.org/10.51298/vmj.v545i2.12245
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Vol. 545 No. 2 (2024)
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Các bài báo
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Đinh, T. L., Phạm, T. V., & Mai, T. H. (2024). REVIEW OF PRENATAL DIAGNOSIS RESULTS OF DIGEORGE SYNDROME AT HANOI OBSTETRICS AND GYNECOLOGY HOSPITAL. Vietnam Medical Journal, 545(2). https://doi.org/10.51298/vmj.v545i2.12245

REVIEW OF PRENATAL DIAGNOSIS RESULTS OF DIGEORGE SYNDROME AT HANOI OBSTETRICS AND GYNECOLOGY HOSPITAL

Thúy Linh Đinh, Thế Vương Phạm, Trọng Hưng Mai

Main Article Content

Abstract

DiGeorge syndrome (DGS) is a common microdeletion syndrome caused by a deletion of 22q11.2. Clinical symptoms of DGS include cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and hypocalcemia. Objective: describe the clinical characteristics of fetuses diagnosed with DGS. Subject-Methodology: A cross-sectional descriptive study in 26 fetuses diagnosed with DGS using the Prenatal BoBs was studied. Result: amongst the 26 fetal cases, 23 had congenital heart defects, 2 had aberrant right subclavian artery, and 1 had a father with DGS. All DGS cases in fetuses were due to the deletion of 22q11.2 and no DGS case with deletion of 10p14 was observed. Conclusion: the diagnostic capability of the Prenatal Bobs test in diagnosing DiGeorge syndrome caused by 22q11.2 deletion is confirmed. The most common ultrasound abnormalities of DGS fetuses is  abnormal heart defects, especially conotruncal abnormalities. Aberrant right subclavian artery and clinical features that suspects the parents have DGS should be carefully considered.

Article Details

Keywords

DiGeorge syndrome, 22q11.2, ultrasound abnormality, heart defect, prenatal-Bobs

References

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