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. 2023 Dec;36(1):2155044.
doi: 10.1080/14767058.2022.2155044. Epub 2022 Dec 13.

High prevalence of maternal mosaic monosomy X in pregnant women in Vietnam

Danh Cuong Tran  1   2 , Thanh-Thanh Thi Nguyen  3   4 , Ngoc-Lan Thi Hoang  1   2 , Lan-Anh Thi Luong  2 , Kim-Phuong Thi Doan  1   2 , Minh Thi Thi Ha  5 , Nhat-Thang Tran  6 , Van-Thong Nguyen  7 , Thu-Huong Nhat Trinh  8 , Ngoc-Trinh Kieu Nguyen  3   4 , Cong-Trai Nguyen  3   4 , Thanh-Dat Nguyen  3   4 , xQuynh-Tho Thi Nguyen  3 , Thanh-Thuy Thi Do  3 , Dinh-Kiet Truong  3 , Hoa Giang  3   4 , Hoai-Nghia Nguyen  9 , Hung-Sang Tang  3   4 , Minh-Duy Phan  3   4
Affiliations
Free article

High prevalence of maternal mosaic monosomy X in pregnant women in Vietnam

Danh Cuong Tran et al. J Matern Fetal Neonatal Med. 2023 Dec.
Free article

Abstract

Objective: To demonstrate the prevalence of maternal mosaic monosomy X (MMXO) in a cohort of pregnant women in Vietnam.

Methods: All 105,594 singleton pregnant women undergoing noninvasive prenatal screening (NIPS) between January 2019 and February 2021 in Vietnam were analyzed by measuring discordance between size- and count-based z-scores for chromosome X (ChrX) to identify suspected cases of MMXO and validated by fluorescence in situ hybridization (FISH) on maternal blood.

Results: We identified 295 (0.279%) suspected MMXO cases. After FISH analysis, MMXO was confirmed in 125 cases (42.37%), revealing the MMXO prevalence of 0.118% (95% CI: 0.097-0.139%) in this cohort.

Conclusion: We found a relatively high prevalence of MMXO in Vietnamese pregnant women and demonstrated a strong influence of MMXO on the ChrX z-score using a count-based method, resulting in false positives. The size-based method is not sensitive to MMXO and therefore achieves higher PPV.

Keywords: Maternal mosaic monosomy; Vietnam; chromosome X; pregnant women; z-score.

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