Association of recurrent pregnancy loss with chromosomal abnormalities and hereditary thrombophilias

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dc.contributor.authorOcak, Zeynep
dc.contributor.authorÖzlü, Tülay
dc.contributor.authorÖzyurt, Osman
dc.date.accessioned2021-06-23T19:35:00Z
dc.date.available2021-06-23T19:35:00Z
dc.date.issued2013
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractBackground: Recurrent pregnancy loss (RPL) which is generally known as > 3 consecutive pregnancy losses before 20 weeks' gestation is seen in 0.5-2% of women Objective: To evaluate the association of parental and fetal chromosomal abnormalities with recurrent pregnancy loss in our area and to analyze the frequency of three types of hereditary thrombophilia's; (MTHFR C677T polymorphisms, FV Leiden G1691A mutation and Prothrombin (factor II) G20210A mutation) in these female patients. Methods: The present case-control retrospective study was performed between February 2007 and December 2011 on 495 couples, who had two or more consecutive pregnancy losses before 20 weeks' gestation. We used conventional cytogenetic analysis and polymerase chain reaction-restriction fragment length polymorphism. Results: Parental chromosomal abnormality was detected in 28 cases (2.8% of all cases, 5.7% of the couples) most of which (92.9%) were structural abnormalities. All of the structural abnormalities were balanced chromosomal translocations. Chromosomal analysis performed from the abortion materials detected a major chromosomal abnormality in 31.9% of the cases. The most frequently observed alteration in the hereditary thrombophilia genes was heterozygote mutation for the MTHFR C677T polymorphisms (n=55). Conclusion: Balanced translocations are the most commonly detected chromosomal abnormalities in couples being evaluated for recurrent pregnancy loss and these patients are the best candidates for offering prenatal genetic diagnosis by the help of which there is a possibility of obtaining a better reproductive outcome.en_US
dc.identifier.doi10.4314/ahs.v13i2.35
dc.identifier.endpage452en_US
dc.identifier.issn1680-6905
dc.identifier.issn1729-0503
dc.identifier.issue2en_US
dc.identifier.pmid24235948en_US
dc.identifier.scopus2-s2.0-84883719913en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage447en_US
dc.identifier.urihttps://doi.org/10.4314/ahs.v13i2.35
dc.identifier.urihttps://hdl.handle.net/20.500.12491/7684
dc.identifier.volume13en_US
dc.identifier.wosWOS:000325695600036en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorOcak, Zeynep
dc.institutionauthorÖzlü, Tülay
dc.language.isoenen_US
dc.publisherMakerere Univ, Fac Meden_US
dc.relation.ispartofAfrican Health Sciencesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectChromosomal Abnormalityen_US
dc.subjectRecurrent Pregnancy Lossen_US
dc.subjectThrombophiliaen_US
dc.titleAssociation of recurrent pregnancy loss with chromosomal abnormalities and hereditary thrombophiliasen_US
dc.typeArticleen_US

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