ArticleMolecular genetics & genomic medicine2022
Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 6 citations in OpenAlex.
- Article
- Prevalence, knowledge, awareness, attitudes, perceptions and practices of G6PD deficiency among mothers, children and pregnant women.Journal of public health research · 2026Article
- Association between G6PD gene variants and adverse pregnancy outcomes.BMC pregnancy and childbirth · 2026Article
- Prevalence of common autosomal recessive and X-linked conditions in pregnant women in Vietnam: a cross-sectional study.Scientific reports · 2025Article
- Emerging therapeutic options in the management of diabetes: recent trends, challenges and future directions.International journal of obesity (2005) · 2023Review
- Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.Molecular genetics & genomic medicine · 2022Article
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Authors and funding
39 authors at 13 institutions in 1 country.
Funding
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Abstract
backgroundSeveral 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.
methodsPregnant 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.
resultsOf 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.
conclusionThis 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.
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