Publications by authors named "Thu Huong Nhat Trinh"
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.* -
- Out of the participants, 448 women were found to have chromosomal aberrations, with 274 exhibiting chromosomal aneuploidies and 174 having pathogenic CNVs.* -
- 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
- The study aimed to assess the prevalence of maternal mosaic monosomy X (MMXO) among pregnant women in Vietnam using noninvasive prenatal screening methods.
- Out of over 105,000 women analyzed, 295 were suspected of having MMXO, with further testing confirming 125 cases, resulting in a confirmed prevalence of 0.118%.
- The results indicate that MMXO significantly affects chromosome X measurements, leading to many false positives when using size-based methods, while the count-based method is better for accurate results.
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 Thu Huong Nhat Trinh
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
- Accurate profiling of recessive diseases in the Vietnamese population is crucial for developing effective carrier screening programs, but minorities are often underrepresented in genetic research.
- A comprehensive study analyzed genetic data from 985 Vietnamese individuals, identifying 118 recessive diseases and 164 variants, with some diseases having significantly higher carrier frequencies compared to global populations.
- The research revealed three prevalent diseases—beta-thalassemia, citrin deficiency, and phenylketonuria—with notable carrier rates, and introduced seven novel pathogenic variants, enhancing the understanding of recessive disorders specific to Vietnamese individuals.
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.