D. Tran, Minh Ngoc Phan, Hong Thuy Dao, Hong-Dang Luu Nguyen, Duy-Anh Nguyen, Quang-Thanh Le, Diem-Tuyet Thi Hoang, Nhat-Thang Tran, Thi Minh Thi Ha, Thuy Linh Dinh, C. Nguyen, Kim Phuong Thi Doan, Lan-Anh Thi Luong, Ta Son Vo, Thu Huong Nhat Trinh, V. Nguyen, Phuong-Anh Ngoc Vo, Y. Nguyen, My-An Dinh, Phuoc-Loc Doan, T. T. Do, Q. Nguyen, D. Truong, Hoai-Nghia Nguyen, Minh-Duy Phan, Hung-Sang Tang, H. Giang
{"title":"The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy.","authors":"D. Tran, Minh Ngoc Phan, Hong Thuy Dao, Hong-Dang Luu Nguyen, Duy-Anh Nguyen, Quang-Thanh Le, Diem-Tuyet Thi Hoang, Nhat-Thang Tran, Thi Minh Thi Ha, Thuy Linh Dinh, C. Nguyen, Kim Phuong Thi Doan, Lan-Anh Thi Luong, Ta Son Vo, Thu Huong Nhat Trinh, V. Nguyen, Phuong-Anh Ngoc Vo, Y. Nguyen, My-An Dinh, Phuoc-Loc Doan, T. T. Do, Q. Nguyen, D. Truong, Hoai-Nghia Nguyen, Minh-Duy Phan, Hung-Sang Tang, H. Giang","doi":"10.2217/pme-2023-0113","DOIUrl":null,"url":null,"abstract":"Background: Copy number variation sequencing (CNV-seq) is a powerful tool to discover structural genomic variation, but limitations associated with its retrospective study design and inadequate diversity of participants can be impractical for clinical application. Aim: This study aims to use CNV-seq to assess chromosomal aberrations in pregnant Vietnamese women. Materials & methods: A large-scale study was conducted on 3776 pregnant Vietnamese women with abnormal ultrasound findings. Results: Chromosomal aberrations were found in 448 (11.86%) women. Of these, 274 (7.26%) had chromosomal aneuploidies and 174 (4.61%) carried pathogenic/likely pathogenic CNVs. Correlations were established between chromosomal aberrations and various phenotypic markers. Conclusion: This comprehensive clinical study illuminates the pivotal role of CNV-seq in prenatal diagnosis for pregnancies featuring fetal ultrasound anomalies.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":"76 6","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Personalized medicine","FirstCategoryId":"0","ListUrlMain":"https://doi.org/10.2217/pme-2023-0113","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Copy number variation sequencing (CNV-seq) is a powerful tool to discover structural genomic variation, but limitations associated with its retrospective study design and inadequate diversity of participants can be impractical for clinical application. Aim: This study aims to use CNV-seq to assess chromosomal aberrations in pregnant Vietnamese women. Materials & methods: A large-scale study was conducted on 3776 pregnant Vietnamese women with abnormal ultrasound findings. Results: Chromosomal aberrations were found in 448 (11.86%) women. Of these, 274 (7.26%) had chromosomal aneuploidies and 174 (4.61%) carried pathogenic/likely pathogenic CNVs. Correlations were established between chromosomal aberrations and various phenotypic markers. Conclusion: This comprehensive clinical study illuminates the pivotal role of CNV-seq in prenatal diagnosis for pregnancies featuring fetal ultrasound anomalies.
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