The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy.
Per Med
; 21(2): 79-87, 2024.
Article
in En
| MEDLINE
| ID: mdl-38573622
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.
[Box see text].
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosome Aberrations
/
DNA Copy Number Variations
/
Fetus
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Country/Region as subject:
Asia
Language:
En
Journal:
Per Med
Year:
2024
Document type:
Article