{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:43:27Z","timestamp":1787503407558,"version":"build-2736575974"},"reference-count":52,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,5,3]],"date-time":"2022-05-03T00:00:00Z","timestamp":1651536000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Several inherited metabolic diseases are underreported in Vietnam, namely glucose\u20106\u2010phosphate 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      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\n                      <jats:italic>G6PD, PAH<\/jats:italic>\n                      and\n                      <jats:italic>GALT<\/jats:italic>\n                      genes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Of 3259 women screened across Vietnam, 450 (13.8%) carried disease\u2010associated variants for\n                      <jats:italic>G6PD<\/jats:italic>\n                      ,\n                      <jats:italic>PAH<\/jats:italic>\n                      and\n                      <jats:italic>GALT<\/jats:italic>\n                      . The prevalence of carriers was 8.9% (291 of 3259) in\n                      <jats:italic>G6PD<\/jats:italic>\n                      and 4.6% (152 of 3259) in\n                      <jats:italic>PKU<\/jats:italic>\n                      , whilst\n                      <jats:italic>GAL<\/jats:italic>\n                      was low at 0.2% (7 of 3259). Two\n                      <jats:italic>GALT<\/jats:italic>\n                      variants, c.593\u2009T\u2009&gt;\u2009C and c.1034C\u2009&gt;\u2009A, have rarely been reported.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>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\u2010effective genetic metabolic carrier screening programmes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1959","type":"journal-article","created":{"date-parts":[[2022,5,3]],"date-time":"2022-05-03T04:43:35Z","timestamp":1651553015000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Massively parallel sequencing uncovered disease\u2010associated variant spectra of glucose\u20106\u2010phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women"],"prefix":"10.1002","volume":"10","author":[{"given":"Tat\u2010Thanh","family":"Nguyen","sequence":"first","affiliation":[{"name":"R&amp;D Department Gene Solutions  Ho Chi Minh City Vietnam"},{"name":"Genetics and Genomics Division Medical Genetics Institute  Ho Chi Minh City 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