Non-invasive first-trimester detection of paternal beta-globin gene mutations and polymorphisms as predictors of thalassemia risk at chorionic villous sampling

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dc.contributor.authorLazaros, L.en
dc.contributor.authorHatzi, E.en
dc.contributor.authorBouba, I.en
dc.contributor.authorMakrydimas, G.en
dc.contributor.authorDalkalitsis, N.en
dc.contributor.authorStefos, T.en
dc.contributor.authorParaskevaidis, E.en
dc.contributor.authorGeorgiou, I.en
dc.date.accessioned2015-11-24T19:01:49Z
dc.date.available2015-11-24T19:01:49Z
dc.identifier.issn0301-2115-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/19728
dc.rightsDefault Licence-
dc.subjectCase-Control Studiesen
dc.subject*Chorionic Villi Samplingen
dc.subjectDNA Mutational Analysisen
dc.subjectFemaleen
dc.subjectGlobins/*geneticsen
dc.subjectHaplotypesen
dc.subjectHumansen
dc.subjectMaleen
dc.subjectPolymorphism, Genetic/*geneticsen
dc.subjectPregnancyen
dc.subjectPregnancy Trimester, First/*geneticsen
dc.subjectSensitivity and Specificityen
dc.subjectbeta-Thalassemia/diagnosis/*geneticsen
dc.titleNon-invasive first-trimester detection of paternal beta-globin gene mutations and polymorphisms as predictors of thalassemia risk at chorionic villous samplingen
heal.abstractOBJECTIVE: The objective was to evaluate the beta-globin gene mutations and polymorphisms in cell-free fetal DNA in the early first trimester (7-9th weeks' gestation) for the prediction of thalassemia risk at chorionic villous sampling (CVS). STUDY DESIGN: Beta-globin gene mutations and polymorphisms were analyzed in 97 carrier families and 100 control couples. Using conventional PCR-DGGE we carried out cell-free fetal DNA analysis in 37 couples in whom only the father was an IVSI-110 carrier. RESULTS: Beta-globin gene mutations have 80% information content in contrast to 39% of polymorphisms. By non-invasive early first-trimester identification of the paternally transmitted IVSI-110 mutation, we reached a sensitivity and specificity of 96 and 100%, respectively. Although the detection rate of the Y chromosome in male fetuses was as high as 100%, beta-thalassemia allele drop-out cannot be excluded. CONCLUSIONS: Even though there is high sensitivity in non-invasive paternally transmitted beta-thalassemia mutation detection, intense effort must be made to avoid misdiagnoses before the clinical application of this approach.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.primary10.1016/j.ejogrb.2007.12.019-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/18353524-
heal.identifier.secondaryhttp://ac.els-cdn.com/S0301211508000523/1-s2.0-S0301211508000523-main.pdf?_tid=8fd86e2a8a85c8aac3fa5627fcc5e9c8&acdnat=1333455547_b9bb822c215eb5d674cb33d8f9ab4aeb-
heal.journalNameEur J Obstet Gynecol Reprod Biolen
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2008-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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