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Date Published: 07/09/2024
Abstract Views: 37
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DOI: https://doi.org/10.51298/vmj.v541i3.10907
Issue
Vol. 541 No. 3 (2024)
Section
Các bài báo
How to Cite
Mai, T. H., Phạm, T. V., & Đinh, T. L. (2024). TURNER SYNDROME: PRENATAL DIAGNOSIS AND FETAL ABNORMALITIES. Vietnam Medical Journal, 541(3). https://doi.org/10.51298/vmj.v541i3.10907

TURNER SYNDROME: PRENATAL DIAGNOSIS AND FETAL ABNORMALITIES

Trọng Hưng Mai, Thế Vương Phạm, Thuý Linh Đinh

Main Article Content

Abstract

Objective: Describe the association between abnormalities on ultrasound and genetic abnormalities in fetuses with Turner syndrome. Methods: Retrospective study, description and analysis of the relationship between abnormal morphology on ultrasound and karyotype of 36 Turner syndrome cases. Results: Among 36 fetuses with Turner syndrome, 41.7% of fetuses had morphological abnormalities on ultrasound; 58.3% of fetuses were determined to be at risk of Turner syndrome through the NIPT test. The non-mosaic 45,X cases showed more abnormal ultrasound results and more severe phenotypic aberrations compared to the mosaic cases and cases with abnormal X chromosomal structures. Conclusions: NIPT screening readiness along with prenatal ultrasound plays an important role in prenatal screening of Turner syndrome. Karyotyping is the gold standard in prenatal diagnosis of Turner syndrome.

Article Details

Keywords

Turner syndrome, abnormal ultrasound, prenatal diagnosis

References

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