Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women. Issue 7 (3rd May 2022)

• Record Type: Journal Article
• Authors: Nguyen, Tat‐Thanh; Le, Quang‐Thanh; Hoang, Diem‐Tuyet Thi; Du Nguyen, Huu; Ha, Thi Minh Thi; Nguyen, My‐Nhi Ba; Ta, Thanh‐Thuy Thi; Tran, Nhat Thang; Trinh, Thu Huong Nhat; Doan, Kim Phuong Thi; Lam, Duc Tam; Tran, Son Tra Thi; Nguyen, Thanh Xuan; Le, Hong‐Thinh; Ha, Van Tuan; Nguyen, Manh Hoan; Le, Ba‐Liem Kim; Duong, My Linh; Pham, Trung Ha; Tran, Anh Tuan; Phan, Xuan Lan Thi; Huynh, Thanh Liem; Nguyen, Lan‐Phuong Thi; Vo, Thanh Binh; Le, Duy‐Khang Nguyen; Tran, Ngoc Nhu Thi; Tran, Quynh Nhu Thi; Van, Yen‐Linh Thi; Huynh, Bich‐Ngoc Thi; Nguyen, Thanh‐Phương Thi; Dao, Trang Thi; Nguyen, Lan Phuong Thi; Vo, Truong‐Giang; Do, Thanh‐Thuy Thi; Truong, Dinh‐Kiet; Tang, Hung Sang; Phan, Minh‐Duy; Nguyen, Hoai‐Nghia; Giang, Hoa;
• Is Part Of: Molecular genetics & genomic medicine. Volume 10:Issue 7(2022)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2022-05-03
• Subjects: G6PDd -- GAL -- massively parallel sequencing -- PKU -- Vietnam; Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.1959
• Languages: English
• ISSNs: 2324-9269

Abstract

Abstract: 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. Abstract : This study highlights the need for routine carrier screening, where women give blood while receiving routine prenatal care, in Vietnam. The use of massively parallel sequencing is suitable for screening multiple allele variants, allowing for identifying rare disease‐associated variants.NonBreakingSpace; #10;