Publications by authors named "Thanh Binh Vo"
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
- * A new method was developed to identify female carriers of α-thalassemia using non-invasive prenatal test samples, finding that 7.76% of 68,885 Vietnamese pregnant women carried deletions related to the disorder.
- * The approach showed high accuracy, with F1-scores between 94.74% and 99.55% for detecting various genotypes, and it suggests that using cfDNA from prenatal tests could be a cost-effective way to identify carriers of α-thalassemia.
Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.
Tat-Thanh Nguyen Quang-Thanh Le Diem-Tuyet Thi Hoang Huu Du Nguyen Thi Minh Thi Ha Thanh Binh Vo Truong-Giang Vo
Mol Genet Genomic Med
July 2022
Article Synopsis
- A study in Vietnam assessed the prevalence of inherited metabolic diseases (G6PD, PKU, and GAL) among pregnant women using massively parallel sequencing (MPS), a method that allows for simultaneous screening of multiple genetic variants.
- Out of 3,259 pregnant women screened, 13.8% were found to carry disease-associated variants, with G6PD being the most common and GAL being very rare.
- The findings underscore the importance of routine carrier screening during prenatal care in Vietnam, suggesting MPS as an effective tool for identifying both common and rare genetic variants to aid in public health planning.
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.