Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.
Tat-Thanh NguyenQuang-Thanh LeDiem-Tuyet Thi HoangHuu Du NguyenMinh Thi Thi HaMy-Nhi Ba NguyenThanh-Thuy Thi TaNhat Thang TranThu Huong Nhat TrinhKim Phuong Thi DoanDuc Tam LamSon Tra Thi TranThanh Xuan NguyenHong-Thinh LeVan Tuan HaManh Hoan NguyenBa-Liem Kim LeMy Linh DuongTrung Ha PhamAnh Tuan TranXuan Lan Thi PhanThanh Liem HuynhLan-Phuong Thi NguyenThanh Binh VoDuy-Khang Nguyen LeNgoc Nhu Thi TranQuynh Nhu Thi TranYen-Linh Thi VanBich-Ngoc Thi HuynhThanh-Phương Thi NguyenTrang Thi DaoLan Phuong Thi NguyenTruong-Giang VoThanh-Thuy Thi DoDinh-Kiet TruongHung Sang TangMinh-Duy PhanHoai-Nghia NguyenHoa GiangPublished in: Molecular genetics & genomic medicine (2022)
This study highlights the need for routine carrier screening, where women give blood whilst receiving routine prenatal care, in Vietnam. The use of MPS is suitable for screening multiple variants, allowing for identifying rare pathogenic variants. The data from our study will inform policymakers in constructing cost-effective genetic metabolic carrier screening programmes.