TEKRARLAYAN GEBELİK KAYIPLARINDA SİTOGENETİK ANALİZ

Abstract

Retrospektif olarak gerçekleştirdiğimiz çalışmamızda, örnek grubumuz 2008-2012 Şifa Üniversitesi Tıp Fakültesi Genetik Tanı Merkezi’ne Kadın Hastalıkları ve Doğum Kliniği’nden tekrarlayan gebelik kaybı nedeniyle gönderilen düşük materyallerinden oluşmuştur. 96 adet düşük materyalinden uzun süreli hücre kültürü yapılmıştır. 84 örnekte hücre kültürü başarılı, 12 örnekte başarılı olmamıştır. 84 örneğin sitogenetik analizi sonucunda örneklerin 56’sında %67 normal kromozom kuruluşu, 24’ünde %29 anormal kromozom kuruluşu, 2‘sinde %2 mozaik kromozom kuruluşu ve 2 ‘sinde %2 polimorfizm saptanmıştır. Anormal kromozom kuruluşunun % 96’sında sayısal anomali, %4’ünde yapısal anomali saptanmıştır. Sayısal anomaliler içinde %82.5 anöploidi ve anöploidiler içinde en sık trizomi 16 ‘ya %16 rastlanılmıştır. Normal karyotip saptanan olgularda %84 oranında 46,XX kromozom kuruluşu, %16 oranında 46,XY kromozom kuruluşu saptanmıştır

Keywords

• Tekrarlayan gebelik kaybı,sitogenetik analiz

CYTOGENETIC ANALYSIS IN RECURRENT PREGNANCY LOSS

Abstract

Our study was done retrospective, sample group has consisted abort materials that have received a diagnosis of recurrent pregnancy loss sent from Şifa University Faculty of Medicine, Department of Obstetrics and Gynecology between 2008 and 2012. The long term cell culture has been done on 96 abort materials. The cell culture has became succesful in 84 materials, culture has became failure in 12 materials. The result of cytogenetic analysis on 84 materials has been presented that in 56 of them 67% normal karyotype, in 24 29% anormal karyotype, in 2 2% mosaic karyotype and in 2 2% polymorphism. It has been determined 96% numerical abnormality, 4% structural abnormality. It has been observed 82.5% aneuploidy in numerical abnormalities and so most common trisomy 16 16% in aneuploides. In the cases where normal kayotype havebeen determined 84% of them are 46,XX karyotype and 16% of them are 46,XY karyotype

Keywords

• Recurrent pregnancy loss,cytogenetic analysis

References

1. ) Sugiura-Ogasawara M, Ozaki Y, Katano K, Suzumori N, Kitaori T,Mizutani E.Abnormal embryonic karyotype is the most frequent cause of recurrent miscarriage. Human Reproduction 2012; 27(8): 2297-303.
2. ) Jauniaux E, Farquharson RG, Christiansen OB, Exalto N. Evidence-based guidelines for the investigation and medica treatment of recurrent miscarriage. Human Reproduction 2006; 21(9): 2216–
3. ) Pflueger MVS. The Principles of Clinical Cytogenetics Gersen SI, Keagle MB, editors. 2nd ed. New York: Humana pres; 2005:p. 323-45.
4. ) Carp H. Recurrent Pregnancy Loss: Towards More Accurate Diagnosis and Treatment. IMAJ 2001; 3(7): 32.
5. ) Levy B, Hirschhorn K, Kardon N. Chromosome Abnormalities in Spontaneous Abortions. Madame Curıe Report. Landes Bioscience, 2007.
6. ) Goddijn MM, Leschot NJ. Geneticc aspects of miscarriage. Baillièress Best Practice and Research. Clinical Obstetrics and Gynaecology 2000; 14(5):855
7. ) Nagaishi M, Yamamoto T, Iinuma K, Shimomura K, Berend SA, Knops J. Chromosome abnormalities identified in 347 spontaneous abortions collected in Japan. J Obstet Gynaecol Res 2004; 30(3): 237-41.
8. ) Ökten G, Kara N, Tural Ş, Güneş S, Güven D, Koçak İ, et al. Düşük örneklerinde sitogenetik analiz sonuçları. J. Exp. Clin. Med 2012; 29: 113-15.

9. ) Brajenović-Milić B, Petrović O, Krašević M, Ristić S, Kapović M. Chromosomal Anomalies in Abnormal Human Pregnancies. Fetal Diagn Ther 1998; 13(3): –91.
10. ) Diego-Alvarez D, Ramos-Corrales C, Garcia-Hoyos M, Bustamante-Aragones A, Cantalapiedra D, Diaz- Recasens J, et al. Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach. Human Reproduction 2006; 21(4): 958-66.
11. ) Harrison CJ, Jack EM, Allen TD, Harris R. Investigation of human chromosome polymorphisms by scanning electron microscopy. Journal of Medical Genetics 1985; 22(1): 16-23.
12. ) Wyandt HE, Tonk VS. Human Chromosome Variation. Heteromorphism and Polymorphism. Springer Science+Business Media B.V. 2011. Chapter Pp.7-32.
13. ) Ocak Z, Özlü T, Ozyurt O. Association of recurrent pregnancy loss with chromosomal abnormalities and hereditary thrombophilias. African Health Sciences ; 13(2): 447-52. ) Madon PF, Athalye AS, Parikh FR. Polymorphic variants on chromosomes probably play a significant role in infertility. Reprod Biomed Online 2005; 11(6): 32.
14. ) Chopade S, Chopade DK, Harish Harde H. Impact of Chromosomal Heteromorphisms on Recurrent Miscarriages. Human Genet Embryol, 2012; 2:1.
15. ) Purandare H, Fernandes NV, Deshmukh SV, Chavan S.Heterochromatic Variations and Pregnancy Losses in Humans. Int J Hum Genet. 2001; 11(3): 75.
16. ) Evdokimova VN, Nikitina TV, Lebedev IN, Sukhanova NN, Nazarenko SA. Sex ratio in early embryonal mortality in man. Ontogenez. 2000; 31(4): 57.
17. ) Hassold T, Quillen SD, Yamane JA. Sex ratio in spontaneous abortions. Ann Hum Genet. 1983; (pt1): 39-47.
18. ) Halder A, Fauzdar A. Skewed sex ratio and low aneuploidy in recurrent early missed abortion. Indian J Med Res. 2006; 124(1): 41-50.
19. ) Eiben B, Borgmann S, Schübbe I, Hansmann I. A cytogenetic study directly from chorionic villi of 140 spontaneous abortions. Hum Genet. 1987; 77(2): 41.
20. ) Edwards RG. New outlooks on gene activation and X inactivation in mouse embryos. Reprod Bio Med Online 2004; 8(2): 248-50.
21. ) Gao J, Liu C,Yao F, Hao N, Zhou J, Zhou Q,et al. Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion. Molecular Cytogenetics 2012; 5:33.
22. ) Fritz B, Hallermann C, Olert J, Fuchs B, Bruns M, Aslan M, et al. Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH) - Re- evaluation of chromosome aberration rates in early spontaneous abortions. European Journal of Human Genetics 2001; 9(7): 539-47.