{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T18:07:27Z","timestamp":1787162847305,"version":"build-2736575974"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,1,9]],"date-time":"2018-01-09T00:00:00Z","timestamp":1515456000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001349","name":"National Medical Research Council","doi-asserted-by":"publisher","award":["NMRC\/CSA\/0059\/2014"],"award-info":[{"award-number":["NMRC\/CSA\/0059\/2014"]}],"id":[{"id":"10.13039\/501100001349","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["1414050001657"],"award-info":[{"award-number":["1414050001657"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["BJOG"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      To evaluate whether targeted sequencing and relative mutation dosage can be used to diagnose correctly inheritance of maternal\n                      <jats:italic>\u03b2<\/jats:italic>\n                      \u2010thalassaemia mutations in cell\u2010free\n                      <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Feasibility study using samples collected in a prenatal clinic.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Setting<\/jats:title>\n                    <jats:p>South East Asia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Population<\/jats:title>\n                    <jats:p>\n                      Couples where both partners were known to be carriers of one of four common\n                      <jats:italic>\u03b2<\/jats:italic>\n                      \u2010thalassaemia mutations or an HbE mutation, and therefore at risk of carrying a fetus affected with\n                      <jats:italic>\u03b2<\/jats:italic>\n                      \u2010thalassaemia.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      49 samples previously identified as having inherited a paternal\n                      <jats:italic>\u03b2<\/jats:italic>\n                      \u2010thalassaemia mutation were amplified using nested polymerase chain reaction (\n                      <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>\n                      ), and then sequencing. Relative mutation dosage was used to classify the fetus as having inherited the wild\u2010type or mutant maternal allele.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main outcome measures<\/jats:title>\n                    <jats:p>\n                      Classification of the fetus as \u2018unaffected\u2019 (if the maternal wild\u2010type allele was inherited) or \u2018affected\u2019 with\n                      <jats:italic>\u03b2<\/jats:italic>\n                      \u2010thalassaemia (if the maternal mutant allele was inherited).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A classification for inheritance of maternal allele was obtained in 48\/49 samples (98.0%). A concordant call was made in 44\/48 cases (91.7%): one false\u2010positive and three false\u2010negatives were obtained. Thus, we had an overall sensitivity of 87.5% [95% confidence interval (\n                      <jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content>\n                      ) 67.6\u201397.3%] and a specificity of 95.8% (95%\n                      <jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content>\n                      78.9\u201399.9%) for inheritance of maternal genotype.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      <jats:styled-content style=\"fixed-case\">RMD<\/jats:styled-content>\n                      for detection of inheritance of maternal\n                      <jats:italic>\u03b2<\/jats:italic>\n                      \u2010thalassaemia mutations has potential for clinical use. Our sequential approach could be applied to other single\u2010gene disorders.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Tweetable abstract<\/jats:title>\n                    <jats:p>\n                      <jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content>\n                      for\n                      <jats:italic>\u03b2<\/jats:italic>\n                      \u2010thalassaemia achieved using nested\u2010\n                      <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>\n                      followed by relative mutation dosage.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/1471-0528.15045","type":"journal-article","created":{"date-parts":[[2017,12,6]],"date-time":"2017-12-06T11:38:44Z","timestamp":1512560324000},"page":"461-468","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Non\u2010invasive prenatal testing for fetal inheritance of maternal\n                    <i>\u03b2<\/i>\n                    \u2010thalassaemia mutations using targeted sequencing and relative mutation dosage: a feasibility study"],"prefix":"10.1111","volume":"125","author":[{"given":"L","family":"Xiong","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynaecology Yong Loo Lin School of Medicine National University of Singapore Singapore"},{"name":"Department of Gynaecology &amp; 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