1. The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy.
- Author
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Tran DC, Phan MN, Dao HT, Nguyen HL, Nguyen DA, Le QT, Hoang DT, Tran NT, Thi Ha TM, Dinh TL, Nguyen CC, Thi Doan KP, Thi Luong LA, Vo TS, Nhat Trinh TH, Nguyen VT, Vo PN, Nguyen YN, Dinh MA, Doan PL, Do TT, Nguyen QT, Truong DK, Nguyen HN, Phan MD, Tang HS, and Giang H
- Subjects
- Humans, Female, Pregnancy, Vietnam, Adult, Retrospective Studies, Prenatal Diagnosis methods, Aneuploidy, Asian People genetics, Ultrasonography, Prenatal methods, Southeast Asian People, DNA Copy Number Variations genetics, Chromosome Aberrations, Fetus
- 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.
- Published
- 2024
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