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Published: 2026-08-25
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DOI: https://doi.org/10.52852/tcncyh.v205i8.5355
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Vol. 205 No. 8 (2026)
Section
Các bài báo
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Giang, P. T. T., Phượng, Đoàn T. K., Cường, T. D., Thảo, L. P., Thắng, B. Đức, & Lan, H. T. N. (2026). Prenatal diagnosis of fetuses with isolated increased nuchal translucency using single nucleotide polymorphism array. Journal of Medical Research, 205(8), 341-348. https://doi.org/10.52852/tcncyh.v205i8.5355

Prenatal diagnosis of fetuses with isolated increased nuchal translucency using single nucleotide polymorphism array

Phan Thi Thu Giang, Đoàn Thị Kim Phuong, Tran Danh Cuong, Le Phuong Thao, Bùi Đức Thang, Hoang Thi Ngoc Lan

Main Article Content

Abstract

This retrospective descriptive study of 400 pregnant women with an isolated increased fetal nuchal translucency (NT) ≥ 2.5 mm was conducted at the National Hospital of Obstetrics and Gynecology from January 2021 to January 2026 to evaluate the diagnostic value of Single Nucleotide Polymorphism (SNP) array in prenatal diagnosis. Chromosomal abnormalities were identified in 14% of cases, with aneuploidy accounting for 6.75%, of which Trisomy 21 was the most prevalent (5%). SNP array detected additional chromosomal CNVs in 6.75% of cases, comprising 5.25% pathogenic or likely pathogenic CNVs and 1.5% VUS. Compared to traditional karyotyping, SNP array provided a 5.5% incremental diagnostic yield (13.5% vs. 8.0%) and identified abnormal CNVs in 4.9% of cases with a normal karyotype. The detection rates of SNP array across NT subgroups of 2.5 - 3.4 mm, 3.5 - 4.4 mm, and ≥ 4.5 mm were 12.1%, 14.7%, and 14.1%, respectively (p = 0.789). In conclusion, SNP array significantly enhances the detection of chromosomal abnormalities compared to karyotyping in fetuses with isolated increased NT.

Article Details

Keywords

SNP array, karyotype, increased nuchal translucency

References

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