%0 Journal Article
%T The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy.
%A Tran DC
%A Phan MN
%A Dao HT
%A Nguyen HL
%A Nguyen DA
%A Le QT
%A Hoang DT
%A Tran NT
%A Thi Ha TM
%A Dinh TL
%A Nguyen CC
%A Thi Doan KP
%A Thi Luong LA
%A Vo TS
%A Nhat Trinh TH
%A Nguyen VT
%A Vo PN
%A Nguyen YN
%A Dinh MA
%A Doan PL
%A Do TT
%A Nguyen QT
%A Truong DK
%A Nguyen HN
%A Phan MD
%A Tang HS
%A Giang H
%J Per Med
%V 21
%N 2
%D 2024 Apr 4
%M 38573622
%F 2.119
%R 10.2217/pme-2023-0113
%X 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.<BR>[Box: see text].