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Published: 2025-10-31
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DOI: https://doi.org/10.52852/tcncyh.v195i10.3943
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Vol. 195 No. 10 (2025)
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Linh, Đinh T., Vương, P. T., & Hưng, M. T. (2025). 12. Pregnant women with mosaic turner syndrome detected through non- invasive prenatal screening: Clinical characteristics and pregnancy outcomes. Journal of Medical Research, 195(10), 112-119. https://doi.org/10.52852/tcncyh.v195i10.3943

12. Pregnant women with mosaic turner syndrome detected through non- invasive prenatal screening: Clinical characteristics and pregnancy outcomes

Dinh Thuy Linh, Pham The Vuong, Mai Trong Hung

Main Article Content

Abstract

Mosaic Turner syndrome is increasingly being incidentally detected in pregnant women through non-invasive prenatal testing (NIPT); however, prognostic counseling in such cases remains challenging due to the limited number of published reports. This study aims to characterize the clinical features and assess pregnancy outcomes in women who underwent NIPT and were subsequently diagnosed with mosaic Turner syndrome. There were 25 cases of mosaic Turner syndrome identified among a total of 18,416 women who underwent NIPT, corresponding to a rate of 1.36 per 1,000 pregnancies. Women with mosaic Turner syndrome were, on average, 4.4cm shorter in height compared to 46,XX women, but there was no significant difference in menarche age, menstrual characteristics, or fertility. In all cases, fetuses of pregnant women diagnosed with mosaic Turner syndrome demonstrated a normal fetal karyotype of either 46,XX or 46,XY. Women with mosaic Turner syndrome incidentally detected via NIPT probably have a favorable prognosis for bearing healthy offspring.

Article Details

Keywords

Turner syndrome, maternal mosaicism, NIPT

References

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