The type and prevalence of chromosomal abnormalities in couples with recurrent first trimester abortions: A Turkish retrospective study

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dc.authoridKucuk KURTULGAN, Hande/0000-0001-9172-3244
dc.contributor.authorYildirim, Malik Ejder
dc.contributor.authorKarakus, Savas
dc.contributor.authorKurtulgan, Hande Kucuk
dc.contributor.authorBaser, Burak
dc.contributor.authorSezgin, Ilhan
dc.date.accessioned2024-10-26T18:04:14Z
dc.date.available2024-10-26T18:04:14Z
dc.date.issued2019
dc.departmentSivas Cumhuriyet Üniversitesi
dc.description.abstractObjective: Chromosomal abnormalities are more common in the first trimester abortions. We aimed to investigate the types and prevalence of chromosomal abnormalities in couples with recurrent first trimester miscarriages in Sivas, Turkey. Materials and medhods: Three hundred couples (600 individuals) who had a story of recurrent abortion were included in the study. Chromosome analysis was performed after the preparation of lymphocyte culture with the standard method. Karyotype analyses were supported by FISH and aCGH studies. Results: Total 26 chromosome abnormalities (8.7%) were found in the couples (19 females and 7 males). Fifteen cases (57.7%) were structural anomalies and eleven cases (42.3%) were numerical chromosomal aberrations. We detected 5 balanced translocations (33.3%), 4 Robertsonian translocations (26.7%), 3 inversions (20%), 2 duplications (13.3%) and one deletion (6.7%) among the structural anomalies. Mosaic monosomy X in five cases (45.4%), the combination of mosaic monosomy-trisomy X in three cases (27.3%), the combination of mosaic monosomy-trisomy and tetrasomy X in two cases (18.2%) and mosaic pentasomy X in only one individual (9.1%) were encountered as numerical chromosome aberrations. 19 cases had heterochromatic changes or other chromosomal variations (satellite increments and inv9). Conclusion: Chromosome analysis in couples with recurrent miscarriage is necessary for possible preimplantation genetic diagnosis. As well as numerical and structural chromosome abnormalities, some chromosomal variations (heterochromatin and satellite increments etc.) may also contribute to recurrent miscarriages. Numerical chromosomal abnormalities are often associated with sex chromosomes and usually seen in females. (C) 2019 Elsevier Masson SAS. All rights reserved.
dc.identifier.doi10.1016/j.jogoh.2019.05.014
dc.identifier.endpage525
dc.identifier.issn2468-7847
dc.identifier.issn1773-0430
dc.identifier.issue7
dc.identifier.pmid31085277
dc.identifier.scopus2-s2.0-85065639627
dc.identifier.scopusqualityQ2
dc.identifier.startpage521
dc.identifier.urihttps://doi.org/10.1016/j.jogoh.2019.05.014
dc.identifier.urihttps://hdl.handle.net/20.500.12418/28827
dc.identifier.volume48
dc.identifier.wosWOS:000503810100013
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherElsevier Masson, Corp Off
dc.relation.ispartofJournal of Gynecology Obstetrics and Human Reproduction
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectRecurrent abortion
dc.subjectChromosomal abnormality
dc.subjectHeterochromatin
dc.subjectSatellite
dc.titleThe type and prevalence of chromosomal abnormalities in couples with recurrent first trimester abortions: A Turkish retrospective study
dc.typeArticle

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