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Date Published: 20/12/2024
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DOI: https://doi.org/10.51298/vmj.v545i2.12269
Issue
Vol. 545 No. 2 (2024)
Section
Các bài báo
How to Cite
Mai, T. H., Phạm, T. V., & Đinh, T. L. (2024). PRENATAL DIAGNOSIS OF TRILOIDY: A CASE SERIES. Vietnam Medical Journal, 545(2). https://doi.org/10.51298/vmj.v545i2.12269

PRENATAL DIAGNOSIS OF TRILOIDY: A CASE SERIES

Trọng Hưng Mai, Thế Vương Phạm, Thúy Linh Đinh

Main Article Content

Abstract

Triploidy is a chromosomal abnormality that occurs when an embryo has 69 chromosomes instend of the usual 46. Cases that  rarely develop up to the second trimester with ultrasound abnormalities. Objective: describe the results of a prenatal diagnosis of triploidy. Subject-Methodology: From 2016 to 2022, we reviewed 7 cases of prenatal diagnosis of triploidy among 405 cases with chromosomal abnormalities at our center. Data were collected from medical records, including the method of diagnosis, genetic testing results and screening test results. Result: Karyotype of 7 triploidy cases include 5 cases of XXX and 2 cases of XXY. 6/7 cases had abnormal ultrasound findings, such as a congenital heart defect, intrauterine growth restriction, discrephancy of body part… 3 cases had low-risk NIPT, 1 case had a high-risk triple test, and 3 cases did not have any screening tests. The others prenatal diagnosis method, such as array CGH, CNV, Bobs were not detect 69,XXX, but detectable 69,XXY.

Article Details

Keywords

triploidy, ultrasound abnormality, karyotyping.

References

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