Publications by authors named "Xuan Lan Thi Phan"
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 Xuan Lan Thi Phan Minh-Duy Phan
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.