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The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy.
- Source :
-
Personalized medicine [Per Med] 2024; Vol. 21 (2), pp. 79-87. Date of Electronic Publication: 2024 Apr 04. - Publication Year :
- 2024
-
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.
Details
- Language :
- English
- ISSN :
- 1744-828X
- Volume :
- 21
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Personalized medicine
- Publication Type :
- Academic Journal
- Accession number :
- 38573622
- Full Text :
- https://doi.org/10.2217/pme-2023-0113