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

The Journal of Maternal-Fetal & Neonatal Medicine, 2023, Vol.36 (1)

2022 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. 2022 ;ISSN: 1476-7058 ;EISSN: 1476-4954 ;DOI: 10.1080/14767058.2022.2155044

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Title:
High prevalence of maternal mosaic monosomy X in pregnant women in Vietnam
Author: Tran, Danh Cuong ; Nguyen, Thanh-Thanh Thi ; Thi Hoang, Ngoc-Lan ; Thi Luong, Lan-Anh ; Doan, Kim-Phuong Thi ; Ha, Minh Thi Thi ; Tran, Nhat-Thang ; Nguyen, Van-Thong ; Trinh, Thu-Huong Nhat ; Kieu Nguyen, Ngoc-Trinh ; Nguyen, Cong-Trai ; Nguyen, Thanh-Dat ; Thi Nguyen, xQuynh-Tho ; Do, Thanh-Thuy Thi ; Truong, Dinh-Kiet ; Giang, Hoa ; Nguyen, Hoai-Nghia ; Tang, Hung-Sang ; Phan, Minh-Duy
Subjects: chromosome X ; Maternal mosaic monosomy ; pregnant women ; Vietnam ; z-score
Is Part Of: The Journal of Maternal-Fetal & Neonatal Medicine, 2023, Vol.36 (1)
Description: To demonstrate the prevalence of maternal mosaic monosomy X (MMXO) in a cohort of pregnant women in Vietnam. 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. 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. 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.
Publisher: Taylor & Francis
Language: English
Identifier: ISSN: 1476-7058
EISSN: 1476-4954
DOI: 10.1080/14767058.2022.2155044
Source: Taylor & Francis Open Access

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

2022 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. 2022 ;ISSN: 1476-7058 ;EISSN: 1476-4954 ;DOI: 10.1080/14767058.2022.2155044

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