The type and prevalence of chromosomal abnormalities in couples with recurrent first trimester abortions: A Turkish retrospective study
| Autor: | Savas Karakus, Burak Baser, Hande Küçük Kurtulgan, Ilhan Sezgin, Malik Ejder Yildirim |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
Male Numerical Chromosomal Abnormality medicine.medical_specialty Abortion Habitual Adolescent Turkey Heterochromatin Chromosomal translocation Chromosome Disorders Preimplantation genetic diagnosis 03 medical and health sciences Young Adult 0302 clinical medicine Pregnancy Recurrent miscarriage medicine Prevalence Humans Retrospective Studies Gynecology Family Characteristics 030219 obstetrics & reproductive medicine business.industry Obstetrics and Gynecology Chromosome Karyotype medicine.disease Pregnancy Trimester First Reproductive Medicine 030220 oncology & carcinogenesis Karyotyping Tetrasomy Female business |
| Zdroj: | Journal of gynecology obstetrics and human reproduction. 48(7) |
| ISSN: | 2468-7847 |
| Popis: | Objective 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. |
| Databáze: | OpenAIRE |
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