{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T11:54:43Z","timestamp":1791806083043,"version":"4.3.4"},"reference-count":34,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,12,29]],"date-time":"2014-12-29T00:00:00Z","timestamp":1419811200000},"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\/007\/2009"],"award-info":[{"award-number":["NMRC\/CSA\/007\/2009"]}],"id":[{"id":"10.13039\/501100001349","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To develop an accurate non\u2010invasive prenatal test using next generation sequencing (NGS) for HbE and the four most common \u03b2\u2010thalassaemia mutations found in South East Asia (namely \u221228A\u2009&gt;\u2009G, CD17A\u2009&gt;\u2009T, CD41\/42(\u2212TTCT) and IVS\u2010II\u2010654C\u2009&gt;\u2009T).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Cell\u2010free DNA was extracted from maternal plasma from 83 families where both parents were carriers of the HbE mutation or one of four common \u03b2\u2010thalassaemia mutations. Overlapping PCR amplicons covering each mutation were generated, pooled and sequenced using the Illumina MiSeq. Fastq files were analysed to detect inheritance of the paternal mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In two cases where the fathers were compound heterozygotes for HbE and \u221228A\u2009&gt;\u2009G, the fetus was correctly diagnosed as having inherited one of the paternal mutations. In 35\/85 cases, the paternal mutation was not detected, and in 50\/85 cases, it was classified as inherited. Overall sensitivity for detection of paternal mutations was 100% (95% CI: 92.4\u2013100%), and specificity was 92.1% (95% CI: 79.2\u201397.3%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We demonstrated that detection of paternal mutations using NGS can be readily achieved with high sensitivity and specificity, removing the need for an invasive test in 50% of pregnancies at risk of a thalassaemia in cases where the father and mother carry a different mutation. \u00a9 2014 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.4536","type":"journal-article","created":{"date-parts":[[2014,11,14]],"date-time":"2014-11-14T15:11:12Z","timestamp":1415977872000},"page":"258-265","source":"Crossref","is-referenced-by-count":53,"title":["Non\u2010invasive prenatal diagnostic testing for \u03b2\u2010thalassaemia using cell\u2010free fetal DNA and next generation sequencing"],"prefix":"10.1002","volume":"35","author":[{"given":"Li","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 Gynecology &amp; Obstetrics, Nanfang Hospital Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela N.","family":"Barrett","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine National University of Singapore  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Hua","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine National University of Singapore  Singapore"},{"name":"Department of Gynecology &amp; Obstetrics, Nanfang Hospital Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuan Zea","family":"Tan","sequence":"additional","affiliation":[{"name":"Cancer Science Institute of Singapore National University of Singapore  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sherry Sze Yee","family":"Ho","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Molecular Diagnosis Centre National University Hospital  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerry K. Y.","family":"Chan","sequence":"additional","affiliation":[{"name":"Experimental Fetal Medicine Group, Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine National University of Singapore  Singapore"},{"name":"Department of Reproductive Medicine KK Women's and Children's Hospital  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Zhong","sequence":"additional","affiliation":[{"name":"Department of Gynecology &amp; Obstetrics, Nanfang Hospital Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahesh","family":"Choolani","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine National University of Singapore  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