Open AccessMassively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women
Author(s) -
Nguyen TatThanh,
Le QuangThanh,
Hoang DiemTuyet Thi,
Du Nguyen Huu,
Ha Thi Minh Thi,
Nguyen MyNhi Ba,
Ta ThanhThuy Thi,
Tran Nhat Thang,
Trinh Thu Huong Nhat,
Doan Kim Phuong Thi,
Lam Duc Tam,
Tran Son Tra Thi,
Nguyen Thanh Xuan,
Le HongThinh,
Ha Van Tuan,
Nguyen Manh Hoan,
Le BaLiem Kim,
Duong My Linh,
Pham Trung Ha,
Tran Anh Tuan,
Phan Xuan Lan Thi,
Huynh Thanh Liem,
Nguyen LanPhuong Thi,
Vo Thanh Binh,
Le DuyKhang Nguyen,
Tran Ngoc Nhu Thi,
Tran Quynh Nhu Thi,
Van YenLinh Thi,
Huynh BichNgoc Thi,
Nguyen ThanhPhương Thi,
Dao Trang Thi,
Nguyen Lan Phuong Thi,
Vo TruongGiang,
Do ThanhThuy Thi,
Truong DinhKiet,
Tang Hung Sang,
Phan MinhDuy,
Nguyen HoaiNghia,
Giang Hoa
Publication year - 2022
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1959
Subject(s) - galactosemia , vietnamese , newborn screening , medicine , prenatal diagnosis , disease , population , massive parallel sequencing , pediatrics , gene , genetics , pregnancy , dna sequencing , biology , environmental health , fetus , biochemistry , philosophy , linguistics , galactose
Background Several inherited metabolic diseases are underreported in Vietnam, namely glucose‐6‐phosphate dehydrogenase deficiency (G6PDd), phenylketonuria (PKU) and galactosemia (GAL). Whilst massively parallel sequencing (MPS) allows researchers to screen several loci simultaneously for pathogenic variants, no screening programme uses MPS to uncover the variant spectra of these diseases in the Vietnamese population. Methods Pregnant women (mean age of 32) from across Vietnam attending routine prenatal health checks agreed to participate and had their blood drawn. MPS was used to detect variants in their G6PD, PAH and GALT genes. Results Of 3259 women screened across Vietnam, 450 (13.8%) carried disease‐associated variants for G6PD , PAH and GALT . The prevalence of carriers was 8.9% (291 of 3259) in G6PD and 4.6% (152 of 3259) in PKU , whilst GAL was low at 0.2% (7 of 3259). Two GALT variants, c.593 T > C and c.1034C > A, have rarely been reported. Conclusion 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.