{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T05:29:30Z","timestamp":1787030970293,"version":"build-2736575974"},"reference-count":19,"publisher":"Scientific Scholar","issue":"5","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,5]]},"abstract":"\n Background & objectives:<\/jats:title>\n Non-invasive prenatal testing (NIPT) of maternally inherited alleles of \u03b2-thalassaemia (MIB) remains to be a challenge. Furthermore, current techniques are not available for use as routine tests. NIPT for \u03b2-thalassaemia disease was developed by using a specific droplet digital polymerase chain reaction (ddPCR) assay to analyze the cell-free foetal DNA (cffDNA) derived from maternal plasma.<\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n Pregnant women and their spouses who are at risk of bearing an offspring with \u03b2-thalassaemia disease from common MIB mutations (CD 41\/42-TCTT, CD17A>T, IVS1-1G>T and CD26G>A) were enrolled. The ddPCR assay sets were constructed for each of the four mutations. All cell-free DNA samples were first screened for the paternally inherited \u03b2-thalassaemia (PIB) mutation. The PIB-negative samples were considered as non-disease and were not further analyzed. For PIB-positive samples, DNA fragments of 50-300 base pairs in size were isolated and purified, and further analyzed for MIB mutation. The allelic ratio between the mutant and the wild-type was used to determine the presence of MIB in cffDNA. All cases underwent a prenatal diagnosis by amniocentesis for a definite diagnosis.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n Forty two couples at risk were enrolled. Twenty two samples were positive for PIBs. Among these 22 samples, there were 10 cases with allelic ratio >1.0 (MIB positive). All foetuses with over-represented mutant alleles were further diagnosed with \u03b2-thalassaemia disease; eight with compound heterozygous and two with homozygous mutations. The 20 PIB-negative and 12 MIB-negative foetuses were non-affected.<\/jats:p>\n <\/jats:sec>\n \n Interpretation & conclusions:<\/jats:title>\n The results of this study suggest that NIPT utilizing the ddPCR assay can be effectively used for the screening and diagnosis of foetal \u03b2-thalassaemia in at risk pregnancies.<\/jats:p>\n <\/jats:sec>","DOI":"10.4103\/ijmr.ijmr_3226_20","type":"journal-article","created":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T03:21:31Z","timestamp":1686799291000},"page":"447-452","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":6,"title":["Non-invasive prenatal screening & diagnosis of \u03b2-thalassaemia in an affected foetus"],"prefix":"10.25259","volume":"157","author":[{"given":"Narutchala","family":"Suwannakhon","sequence":"first","affiliation":[{"name":"Department of Biology, School of Science, University of Phayao, Phayao, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jittaphol","family":"Hemvuthiphan","sequence":"additional","affiliation":[{"name":"Division of Obstetrics & Gynecology, Phayao Hospital, Phayao, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanapat","family":"Pangeson","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, School of Medical Science, University of Phayao, Phayao, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khwanruedee","family":"Mahingsa","sequence":"additional","affiliation":[{"name":"Thalassaemia Unit, University of Phayao Hospital, University of Phayao, Phayao, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arunee","family":"Pingyod","sequence":"additional","affiliation":[{"name":"Thalassaemia Unit, University of Phayao Hospital, University of Phayao, Phayao, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanwipa","family":"Bumrungpakdee","sequence":"additional","affiliation":[{"name":"Thalassaemia Unit, University of Phayao Hospital, University of Phayao, Phayao, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Torpong","family":"Sanguansermsri","sequence":"additional","affiliation":[{"name":"Thalassaemia Unit, University of Phayao Hospital, University of Phayao, Phayao, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10894","published-online":{"date-parts":[[2023,6,20]]},"reference":[{"key":"R1-20241212","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1186\/1756-0500-3-29","article-title":"Economic burden of beta-thalassemia\/Hb E and beta-thalassemia major in Thai children","volume":"3","author":"Riewpaiboon","year":"2010","journal-title":"BMC Res 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