Cytogenetic Analysis of couples with recurrent miscarriages: A seriesof 316 cases

Amaç: Dengeli yapısal kromozom anomalisi taşıyıcılığı tekrarlayan düşüklerle birliktedir. Bu çalışmada iki ya da daha fazla düşüğü olan bir seri çiftte kromozom aberasyonlarının sıklığı tespit edildi. Materyal ve Metot: Bu çalışmaya, tekrarlayan düşüklere sahip 158 çift dahil edilmiştir. Her iki partnerin primer incelemenin bir parçası olarak karyotipleri yapıldı. Bulgular: Kromozomal aberasyonlar kadınların 13 (%8,22)'ünde ve erkeklerin 7 (%4,43)'sinde bulundu. Kromozomal anomalilerin dağılımı sırasıyla: 7 (%35) dengeli resiprokal translokasyon, 7 (%35) Robertsonian translokasyon, 4 (%20) perisentrik inversion ve 2 (%10) parasentrik inversion idi. Sonuç: Kromozomal aberasyon örnekleri diğer çalışmalarda rapor edilenlerle benzerdi.

Tekrarlayan düşükleri olan çiftlerde sitogenetik analiz: 316 olguluk bir seri

Objective: Carrier status of a structural balanced chromosome abnormality is associated with recurrent miscarriage. This study determined the frequency of chromosomal aberrations in a series of couples with two or more spontaneous abortions. Material and Method: This was a descriptive study conducted on 158 couples with recurrent abortions. Both partners were karyotyped as part of the primary investigation. Results: Chromosomal aberrations were found in 13 (8.22%) of the females and 7 (4.43%) of the males. The prevalence of chromosomal abnormalities was as follows: 7 (35%) balanced reciprocal translocations, 7 (35%) Robertsonian translocations, 4 (20%) pericentric inversions, and 2 (10%) paracentric inversions. Conclusion: The pattern of chromosomal aberrations was similar to that reported in other studies.

PDF

___

1. U TC, Makris M, Tomsu M, Tuckerman E, Laird S. Recurrent miscarriage; aetiology, management and prognosis. Hum Reprod 2002;8 (5):463-81.
2. Stephenson M, Kutteh W. Evaluation and management of recurrent early pregnancy loss. Clin Ostet Gynecol 2007;50(l):132-45.
3. Franssen MT, Korevaar JC, Leschot NJ, Bossuyt PMM, Knegt AC, Gerssen-Schoorl KB, et al. Selective chromosome analysis In couples with two or more miscarriages: case-control study. BMJ 2005;331(7509): 137-41.
4. Jacobs PA, Hassold TJ. The origin of numerical chromosome abnormalities. Adv Genet 1995;33:101-33.
5. Christiansen OB, Steffensen R, Nielsen HS, Varming K. Multifactorial etiology of recurrent miscarriage and its scientific and clinical implications. Gynecol Obstet Invest 2008;66(4):257-67.
6. Stephenson MO. Frequency of factors associated with habitual abortion in 197 couples. Fertil Steril 1996;66(l):24-29.
7. Carp HJA, Feldman B, Oelsner G, Schlff E. Parental karyotype and subsequent live births in recurrent miscarriage. Fertil Steril 2004;81(5): 1296-301.
8. De Braekeleer M, Dao TN. Cytogenetic studies In couples experiencing repeated pregnancy losses. Hum Reprod 1990;5(5):519-28
9. Fortuny A, Carrio A, Soler A, Cararach J, Fuster J, Salami C. Detection of balanced chromosome rearrangements in 445 couples with repeated abortion and cytogenetic prenatal testing in carriers. Fertil Steril 1988;49(5): 774-9.
10. Portnol MF, Joye N, van den Akker J, Moriier G, Taillemıte JL. Karyotypes of 1142 couples with recurrent abortion. Obstet Gynecol 1988;72(l):31-4.
11 Carp HJA, Toder V, Orgad S, Aviram A, Danieli M, Mashiach S, et al. Karyotype of the abortus in recurrent miscarriage. Fertil Steril 2001;75 (4):678-82.
12. Ogasawara M, Aoki K, Okada S, Suzumon K. Embryonic karyotype of abortuses in relation to the number of previous miscarriages. Fertil Steril 2000;73(2):300-4.
13. Stephenson MD, Awartani KA, Robinson WP. Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case control study. Hum Reprod 2002;17(2):446-51.
14. Stern JJ, Dorfman AD, Gutierez-Najar MD, Cerillo M, Coulam CB. Frequency of abnormal karyotype among abortuses from women with and without a history of recurrent spontaneous abortion. Fertil Steril 1996; 65(2): 250-3.
15. Sullivan AE, Silver RM, LaCourslere DY, Porter TF, Branch DW. Recurrent fetal aneuploidy and recurrent miscarriage. Obstet Gynecol 2004; 104(4):784-8.
16. Takakuwa K, Asano K, Arakawa M, Yasuda M, Hasegawa 1, Tanaka K. Chromosome analysis of aborted conceptuses of recurrent aborters positive for anticardiolipin antibody. Fertil Steril 1997;68( l):54-8.
17. Carp HJA, Dolitzky M, Inbal A. Thromboprophylaxis improves the live birth rate in women with consecutive recurrent miscarriages and hereditary thrombophilia. J Thromb Hemost 2003;l(3):433-8.
18. Sugiura-Ogasawara M, Ozaki Y, Sato T, Suzumori N, Suzumori K. Poor prognosis of recurrent aborters with either maternal or paternal reciprocal translocations. Fertil Steril 2004;81(2):367-3.
19. Carp HJA, Guetta E, Dorf H, Soriano D, Barkal G, Schlff E. Embryonic karyotype in recurrent miscarriage with parental karyotypic aberrations. Fertil Steril 2006;85(2):446-50.
20. Goddljn M, Joosten JH, Knegt AC, van derVeen F, Franssen MT, Bonsel GJ, et al. Clinical relevance of diagnosing structural chromosome abnormalities in couples with repeated miscarriage. Hum Reprod 2004; 19 (4): 1013-7.
21. Knudsen UB, Hansen V, Juul S, Secher NJ. Prognosis of a new pregnancy following previous spontaneous abortions. Eur J Obstet Gynecol Reprod Biol 1991;39(l):31-6.
22. Elghezal H, Hidar S, Mougou S, Khain H, Sapd A. Prevalence of chromosomal abnormalities In couples with recurrent mlacarriage. Fertil Steril 2007;88(3):721-3.
23. Al-Hussain M, Al-Nuaim L, Abu Talib Z, Zakl OK. Cytogenetic study in cases with recurrent abortions in Saudi Arabia. Ann Saudi Med 2000;20(3-4): 233-6.
24. Celep F, Karagözel A, Ozeren M, Bozkaya H. The frequency of chromosomal abnormalities In patients with reproductive failure. Eur J Obstet Gynecol Reprod Biol 2006; l27(l):106-9.
25. Elghezal H, Hidar S, Braham R, Denguezlı W, Ajina M, Sa0d A. Chromosomes abnormalities in 1000 infertile males with non-obstructive sperm disorders. Fertil Steril 2006;86{6): 1792-5.
26. Rai R, Regan L. Recurrent miscarriage. Lancet 2006;368(9535): 601-11.