1. Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.
- Author
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Nguyen TT, Le QT, Hoang DT, Du Nguyen H, Ha TMT, Nguyen MB, Ta TT, Tran NT, Trinh THN, Doan KPT, Lam DT, Tran STT, Nguyen TX, Le HT, Ha VT, Nguyen MH, Le BK, Duong ML, Pham TH, Tran AT, Phan XLT, Huynh TL, Nguyen LT, Vo TB, Le DN, Tran NNT, Tran QNT, Van YT, Huynh BT, Nguyen TT, Dao TT, Nguyen LPT, Vo TG, Do TT, Truong DK, Tang HS, Phan MD, Nguyen HN, and Giang H
- Subjects
- Adult, Asian People, Female, High-Throughput Nucleotide Sequencing, Humans, Pregnancy, Pregnant People, Vietnam epidemiology, Galactosemias genetics, Glucosephosphate Dehydrogenase Deficiency epidemiology, Phenylketonurias genetics
- 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., (© 2022 Gene Solutions. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
- Published
- 2022
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