作者
Danh-Cuong Tran,Minh Ngoc Phan,Hong-Thuy Thi Dao,Lưu Hồng Đăng Nguyễn,Duy-Anh Nguyen,Quang Thanh Le,Don Hoang,Nhat Thang Tran,Thị Minh Thi Hà,Thuy Linh Dinh,Canh Chuong Nguyen,Kim Phuong Thi Doan,Lan Anh Thi Luong,Tá Sơn Võ,Thu Huong Nhat Trinh,Van Thong Nguyen,Phuong-Anh Ngoc Vo,Yen-Nhi Nguyen,My-An Dinh,Phuoc-Loc Doan,Thanh‐Thuy Thi,Quynh‐Tho Thi Nguyen,Dinh‐Kiet Truong,Hoai‐Nghia Nguyen,Minh‐Duy Phan,Hung‐Sang Tang,Hoa Giang
摘要
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.