Publications by authors named "Son Tra Thi Tran"
Noninvasive prenatal tests for monogenic diseases (NIPT-SGG) have recently been reported as helpful in early-stage antenatal screening. Our study describes the clinical and genetic features of cases identified by NIPT-SGG. In a cohort pregnancy with abnormal sonograms, affected cases were confirmed by invasive diagnostic tests concurrently, with NIPT-SGG targeting 25 common dominant single-gene diseases.
View Article and Find Full Text PDFDeveloping and validating noninvasive prenatal testing for autosomal dominant monogenic diseases in Vietnam.
Nhi Yen Nguyen Y-Thanh Lu Duy-Anh Nguyen Canh-Chuong Nguyen Linh Thuy Dinh Minh-Thu Thi Tran Danh-Cuong Tran Nhat-Thang Tran Vy Thi-Nhat Tran Son-Tra Thi Tran Kim-Van Thi Tran Huyen-Trang Thi Tran Uyen Vu Tran
Per Med
September 2023
Over 60% of single-gene diseases in newborns are autosomal dominant variants. Noninvasive prenatal testing for monogenic conditions (NIPT-SGG) is cost-effective and timesaving, but not widely applied. This study introduces and validates NIPT-SGG in detecting 25 monogenic conditions.
View Article and Find Full Text PDFMassively 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 Nhat Thang Tran Son Tra Thi Tran Anh Tuan Tran Ngoc Nhu Thi Tran Quynh Nhu Thi Tran Trang Thi Dao
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.