High prevalence of maternal mosaic monosomy X in pregnant women in Vietnam. (31st December 2023)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Journal of maternal-fetal & neonatal medicine. Volume 36:Number 1(2023)
• Publication Date: 2023-12-31
• Subjects: Maternal mosaic monosomy -- pregnant women -- Vietnam -- chromosome X -- z-score; Obstetrics -- Periodicals; Perinatology -- Periodicals; Infants (Newborn) -- Diseases -- Periodicals; Neonatology -- Periodicals; 618.2
• DOI: 10.1080/14767058.2022.2155044
• Languages: English
• ISSNs: 1476-7058

Abstract

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.