Publications by authors named "Phuong-Anh Ngoc Vo"
Article Synopsis
- This study investigates the use of copy number variation sequencing (CNV-seq) to identify chromosomal abnormalities in a diverse group of 3,776 pregnant Vietnamese women who had abnormal ultrasound results.*
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- Out of the participants, 448 women were found to have chromosomal aberrations, with 274 exhibiting chromosomal aneuploidies and 174 having pathogenic CNVs.*
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- The findings highlight the significance of CNV-seq in improving prenatal diagnosis and understanding fetal ultrasound anomalies, reinforcing the need for diverse participant representation in such studies.*
Article Synopsis
- Vietnam has a significant thalassemia issue, with a study of 5,880 pregnant women revealing a 13.13% carrier frequency for thalassemia.
- The breakdown of carriers included 7.82% for α-thalassemia and 5.31% for β-thalassemia, with common mutations identified in both types.
- The study highlights the effectiveness of combining next-generation sequencing with gap-PCR for comprehensive thalassemia screening, estimating that around 5,021 babies could be born with severe thalassemia in Vietnam each year.
Article Synopsis
- * This study analyzed NIPT data from 2,683 pregnant Vietnamese women, identifying over 8 million genetic variants, with 8.2% being unique to this population.
- * The findings revealed 24,487 disease-related genetic variants and significant differences in allele frequency compared to other populations, underscoring the necessity for studies focused on the Vietnamese community.
