The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy

The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy

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. This study aims to use CNV-seq to assess chromo...

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Published in:Personalized medicine Vol. 21; no. 2; p. 79
Main Authors: Tran, Danh-Cuong, Phan, Minh Ngoc, Dao, Hong-Thuy Thi, Nguyen, Hong-Dang Luu, Nguyen, Duy-Anh, Le, Quang Thanh, Hoang, Diem-Tuyet Thi, Tran, Nhat Thang, Thi Ha, Thi Minh, Dinh, Thuy Linh, Nguyen, Canh Chuong, Thi Doan, Kim Phuong, Thi Luong, Lan Anh, Vo, Ta Son, Nhat Trinh, Thu Huong, Nguyen, Van Thong, Vo, Phuong-Anh Ngoc, Nguyen, Yen-Nhi, Dinh, My-An, Doan, Phuoc-Loc, Do, Thanh-Thuy Thi, Nguyen, Quynh-Tho Thi, Truong, Dinh-Kiet, Nguyen, Hoai-Nghia, Phan, Minh-Duy, Tang, Hung-Sang, Giang, Hoa
Format: Journal Article
Language:English
Published: England 2024
Subjects:
Adult
Aneuploidy
Asian People - genetics
Chromosome Aberrations
DNA Copy Number Variations - genetics
Female
Fetus
Humans
Pregnancy
Prenatal Diagnosis - methods
Retrospective Studies
Southeast Asian People
Ultrasonography, Prenatal - methods
Vietnam
Vietnam
chromosomal aberrations
copy number variation sequencing
pregnant Vietnamese women
aneuploidies
clinical anomalies
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Summary: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. This study aims to use CNV-seq to assess chromosomal aberrations in pregnant Vietnamese women. A large-scale study was conducted on 3776 pregnant Vietnamese women with abnormal ultrasound findings. 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. This comprehensive clinical study illuminates the pivotal role of CNV-seq in prenatal diagnosis for pregnancies featuring fetal ultrasound anomalies.
ISSN:1744-828X
DOI:10.2217/pme-2023-0113