Tekrarlayan Düşükleri Olan Çiftlerde Kromozom Anomalileri

Year 2007, Volume: 24 Issue: 3, 90 - 94, 29.12.2009

G. Ökten S. Güneş N. Kara Ş. Tural S. Yiğit E. Taşkın

Abstract

Chromosomal Abnormalities in Couples with Recurrent Pregnancyloss Recurrent miscarriages affect approximately 5% of couples trying to establish a family. In this study we have investigated the chromosomal constitution of couples of with recurrent pregnancy losses in order to determine chromosomal anomaly frequencies. Samples of venous blood were obtained from 318 couples with recurrent miscarriages. Karyotyping was performed on peripheral blood lymphocytes (PBL) according to standard methods and 20 G -banded metaphases were analyzed in each case. We found abnormal chromosomes in 2.2% of patients. We conclude that patients with recurrent miscarriages should be routinely karyotyped.


Tekrarlayan gebelik kayıpları, çocuk sahibi olmak isteyen çiftlerin %5'ini etkilemektedir. Çalışmamızda, tekrarlayan düşükleri olan çiftlerde kromozom anomalileri frekansını belirlemek amacıyla hastaların kromozom yapısı saptandı. Tekrarlayan düşükleri olan 318 çiftin peri-ferik kan kültürü sonuçları değerlendirildi. Tüm olgulara standart periferik kan kültürü ve Giemsa bantlama tekniği (GTG) uygulandı en az 20 metafaz sayılarak yapılan sitogenetik inceleme sonucunda olguların kromozom kuruluşu saptandı. Tekrarlayan düşükleri olan çiftlerde kromozom anomali frekansı %2.2 olarak hesaplandı. Tekrarlayan düşükleri olan çiftlere rutin karyotip analizi yapılmalıdır.

Keywords

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References

• Edmonds DK, Lindsay KS, Miller JF, et al. Early embryonic mortality inwomen. Fertil Steril 1982; 38: 447–453.
• Wilcox AJ, Weinberg CR, O’Connor JF, et al. Incidence of early loss of pregnancy. N Engl J Med 1988; 319: 189–194.
• Jacobs PA, Hassold T. Chromosome abnormalities: origin and etiology in abortions and livebirths. In: Vogel F, Sperling K, eds. Human Genetics. Berlin: Springer-Verlag; 1987; 233–244.
• Roman E. Fetal loss rates and theirrelation to p r e g n a n c y order. J Epidemiol Community Health 1984; 38: 29–35.
• Hatasaka HH. Recurrent miscarriage: epidemiological factors, definitions, and incidence. Clin Obstet Gynecol 1994; 37; 625–634.
• Dewalds GW and Michels WW. Recurrent miscarriages: cytogenetic causes and genetic counseling of affected families. Clin Obstet Gynecol 1986; 29: 865–885.
• Byrne J.L.C. and Ward W. Genetic factors in recurrent abortion. Clin Obstet Gynecol 1994; 37: 693–704.
• Stephenson MD. Frequency of factors associated with habitual abortion in 197 couples. Fertil Steril 1996; 66: 24–29.
• Sugiura-Ogasawara M, Ozaki Y, Sato T, et al. Poor prognosis of recurrent aborters with either maternal or paternal reciprocal translocations. Fertil Steril. 2004; 81: 367–373.
• Goddijn M, Joosten JH, Knegt AC, et al. Clinical relevance of diagnosing structural chromosome abnormalities in couples with repeated miscarriage. Hum Reprod. 2004; 19: 1013–1017.
• Stephenson MD, Sierra S. Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of a structural chromosome rearrangement. Hum Reprod. 2006; 21: 1076–1082.
• Stephenson M, and Kutteh W. Evaluation and Management of Recurrent Early Pregnancy Loss. Clinical Obstetrics and Gynecology 2007; 50(1): 132–145.
• Mitelman F. ISCN: An International System for Human Cytogenetic Nomenclature. Basel: Karger; 1995. 14. Boue A, Boue J, Gropp A: Cytogenetics of pregnancy wastage, in Harris H, Hirschhorn K (eds): Advances in Human Genetics. New York, Plenum Press 1985; 30–31.
• Nussbaum, McInnes, Willard: Genetics in Medicine, 6th (eds). Saunders Press 2004; 148–149.
• Strachan T, Read PA. Human Molecular Genetics, 3rd (eds). Garland Science Press 2004; 56–57.
• Kuo PL, Guo HR. Mechanism of recurrent spontaneous abortions in women with mosaicism of X-chromosome aneuploidies. Fertil Steril 2004; 82: 1594–601.
• Connor M. and Fergusson-Smith M. Medical Genetics fifth edition, 1997.
• Scaricini R, Anichini C, Vivarelli R, et al. Correlation of the clinical phenotype with a pericentric inversion of the chromosome 9. Boll Soc Ital Biol Sper 1992; 68: 175–181.
• Serra A, Brahe C, Millington-Ward A, et al. Pericentric inversion of chromosome 9: prevalence in 300 Downs syndrome families and molecular studies of nondisjunction. Am J Med Genet 1990; 7: 162–168.
• Jae-won Kim, Jun-young Lee, Jun-won Hwang, et al. Behavioral and Developmental Characteristics of Children with Inversion of Chromosome 9 in Korea: A Preliminary Study. Child Psychiatry and human Development 2005; 35: 374–358.