Publications by authors named "Thanh-Phuong Thi Nguyen"
Combined Gap-Polymerase Chain Reaction and Targeted Next-Generation Sequencing Improve α- and β-Thalassemia Carrier Screening in Pregnant Women in Vietnam.
Tuan-Thanh Lam Doan-Tu Nguyen Quang Thanh Le Duy-Anh Nguyen Diem-Tuyet Thi Hoang Huu Du Nguyen Canh Chuong Nguyen Van Thong Nguyen Xuan Thao Nguyen Van Trong Nguyen Hoai Thanh Nguyen Manh Hoan Nguyen Duy-Khang Nguyen Le Thien-Chi Van Nguyen Thanh-Thanh Thi Nguyen Thanh-Phuong Thi Nguyen Cong-Trai Nguyen Thanh-Dat Nguyen Hoai-Nghia Nguyen
Hemoglobin
July 2022
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.
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 My-Nhi Ba Nguyen Thanh Xuan Nguyen Manh Hoan Nguyen Lan-Phuong Thi Nguyen Duy-Khang Nguyen Le Thanh-Phương Thi Nguyen Lan Phuong Thi Nguyen Hoai-Nghia Nguyen
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.
Genetic landscape of recessive diseases in the Vietnamese population from large-scale clinical exome sequencing.
Ngoc Hieu Tran Thanh-Huong Nguyen Thi Hung-Sang Tang Le-Phuc Hoang Trung-Hieu Le Nguyen Van Thong Nguyen Bao-Han Huu Nguyen Hieu Trong Nguyen Kim-Huong Thi Nguyen Hong-Dang Luu Nguyen Thanh-Phuong Thi Nguyen Quynh-Tho Thi Nguyen Hoai-Nghia Nguyen
Hum Mutat
October 2021
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.