PMID- 36514835 OWN - NLM STAT- MEDLINE DCOM- 20230104 LR - 20230111 IS - 1476-4954 (Electronic) IS - 1476-4954 (Linking) VI - 36 IP - 1 DP - 2023 Dec TI - High prevalence of maternal mosaic monosomy X in pregnant women in Vietnam. PG - 2155044 LID - 10.1080/14767058.2022.2155044 [doi] AB - 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. FAU - Tran, Danh Cuong AU - Tran DC AD - Department of Obstetrics and Gynecology, National Hospital of Obstetrics and Gynecology, Hanoi, Vietnam. AD - Department of Obstetrics and Gynecology Department, Hanoi Medical University, Hanoi, Vietnam. FAU - Nguyen, Thanh-Thanh Thi AU - Nguyen TT AD - Medical Genetics, Medical Genetics Institutes, Ho Chi Minh City, Vietnam. AD - Genetic Counselling, Gene Solutions, Ho Chi Minh City, Vietnam. FAU - Thi Hoang, Ngoc-Lan AU - Thi Hoang NL AD - Department of Obstetrics and Gynecology, National Hospital of Obstetrics and Gynecology, Hanoi, Vietnam. AD - Department of Obstetrics and Gynecology Department, Hanoi Medical University, Hanoi, Vietnam. FAU - Thi Luong, Lan-Anh AU - Thi Luong LA AD - Department of Obstetrics and Gynecology Department, Hanoi Medical University, Hanoi, Vietnam. FAU - Doan, Kim-Phuong Thi AU - Doan KT AD - Department of Obstetrics and Gynecology, National Hospital of Obstetrics and Gynecology, Hanoi, Vietnam. AD - Department of Obstetrics and Gynecology Department, Hanoi Medical University, Hanoi, Vietnam. FAU - Ha, Minh Thi Thi AU - Ha MTT AUID- ORCID: 0000-0003-3803-9472 AD - Center for Molecular Biomedicine, University of Medicine and Pharmacy, Hue University, Hue, Vietnam. FAU - Tran, Nhat-Thang AU - Tran NT AD - Obstetrics and Gynecology Department, University Medical Center HCMC, Ho Chi Minh City, Vietnam. FAU - Nguyen, Van-Thong AU - Nguyen VT AUID- ORCID: 0000-0001-9202-1092 AD - Medical Genetics Department, Hung Vuong Hospital, Ho Chi Minh City, Vietnam. FAU - Trinh, Thu-Huong Nhat AU - Trinh TN AD - Department of Antenatal Care, Tu Du Hospital, Ho Chi Minh City, Vietnam. FAU - Kieu Nguyen, Ngoc-Trinh AU - Kieu Nguyen NT AD - Medical Genetics, Medical Genetics Institutes, Ho Chi Minh City, Vietnam. AD - Genetic Counselling, Gene Solutions, Ho Chi Minh City, Vietnam. FAU - Nguyen, Cong-Trai AU - Nguyen CT AD - Medical Genetics, Medical Genetics Institutes, Ho Chi Minh City, Vietnam. AD - Genetic Counselling, Gene Solutions, Ho Chi Minh City, Vietnam. FAU - Nguyen, Thanh-Dat AU - Nguyen TD AD - Medical Genetics, Medical Genetics Institutes, Ho Chi Minh City, Vietnam. AD - Genetic Counselling, Gene Solutions, Ho Chi Minh City, Vietnam. FAU - Thi Nguyen, xQuynh-Tho AU - Thi Nguyen XT AD - Medical Genetics, Medical Genetics Institutes, Ho Chi Minh City, Vietnam. FAU - Do, Thanh-Thuy Thi AU - Do TT AD - Medical Genetics, Medical Genetics Institutes, Ho Chi Minh City, Vietnam. FAU - Truong, Dinh-Kiet AU - Truong DK AD - Medical Genetics, Medical Genetics Institutes, Ho Chi Minh City, Vietnam. FAU - Giang, Hoa AU - Giang H AUID- ORCID: 0000-0001-6549-8012 AD - Medical Genetics, Medical Genetics Institutes, Ho Chi Minh City, Vietnam. AD - Genetic Counselling, Gene Solutions, Ho Chi Minh City, Vietnam. FAU - Nguyen, Hoai-Nghia AU - Nguyen HN AD - Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam. FAU - Tang, Hung-Sang AU - Tang HS AD - Medical Genetics, Medical Genetics Institutes, Ho Chi Minh City, Vietnam. AD - Genetic Counselling, Gene Solutions, Ho Chi Minh City, Vietnam. FAU - Phan, Minh-Duy AU - Phan MD AUID- ORCID: 0000-0002-3426-1044 AD - Medical Genetics, Medical Genetics Institutes, Ho Chi Minh City, Vietnam. AD - Genetic Counselling, Gene Solutions, Ho Chi Minh City, Vietnam. LA - eng PT - Journal Article DEP - 20221213 PL - England TA - J Matern Fetal Neonatal Med JT - The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians JID - 101136916 SB - IM MH - Pregnancy MH - Female MH - Humans MH - *Turner Syndrome/diagnosis/epidemiology/genetics MH - Pregnant Women MH - In Situ Hybridization, Fluorescence MH - Vietnam/epidemiology MH - Prevalence MH - Prenatal Diagnosis/methods OTO - NOTNLM OT - Maternal mosaic monosomy OT - Vietnam OT - chromosome X OT - pregnant women OT - z-score EDAT- 2022/12/15 06:00 MHDA- 2023/01/05 06:00 CRDT- 2022/12/14 02:23 PHST- 2022/12/15 06:00 [pubmed] PHST- 2023/01/05 06:00 [medline] PHST- 2022/12/14 02:23 [entrez] AID - 10.1080/14767058.2022.2155044 [doi] PST - ppublish SO - J Matern Fetal Neonatal Med. 2023 Dec;36(1):2155044. doi: 10.1080/14767058.2022.2155044. Epub 2022 Dec 13.