Russian Journal of Genetics

, Volume 43, Issue 4, pp 437–443 | Cite as

Cytogenetic study of recurrent miscarriages and their parents

  • E. Tunç
  • O. Demirhan
  • C. Demir
  • D. Taştemir
Human Genetics


There is substantial evidence that genetic alterations are contributing factors to the risk for recurrent miscarriages. This study was conducted to determine the frequency and contribution of chromosomal abnormalities in miscarriages and in couples with recurrent miscarriages. We studied a total of 41 miscarriages and their parents with a history of 2–11 recurrent miscarriages. Chromosomal analysis from chorionic villus sampling (CVS) and fetal tissues were performed according to standard cytogenetic methods using G-banding technique. Major chromosomal aberrations and polymorphic variants were found in 51 and 4.8%, respectively. The chromosomal abnormalities were structural (34.4%) and numerical (65.1%) of which 26.1, 21.7, 8.7 and 8.7% were fetal sex aneuploid, triploid, mosaics and trisomic, respectively. Unbalanced and balanced rearrangements were found in 17.2 and 8.6% of all abnormalities, respectively. Major chromosomal abnormalities in couples were seen in 4.9%. The chromosomal abnormalities associated with pregnancy losses and recurrent miscarriages are mostly numerical ones. The incidence of balanced translocations found here is 4.9% which is near to the mode (about 3–6%) observed in the previous studies. Those frequencies are greater than in the general population (0.3%). This indicates that balanced translocations, seen in parents, have some importance in causing miscarriage. The major parental chromosomal aberrations are significantly associated with fetal wastage. Mosaicism should be taken into account for cytogenetic analyses of pregnancy losses. Thus, cytogenetic analyses should be recommended in couples with recurrent miscarriages, when clinical data fail to clarify the cause.


Pregnancy Loss Turner Syndrome Recurrent Miscarriage Pericentric Inversion Abnormal Karyotype 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Jacobs, P.A. and Hassold, T.J., Chromosome Abnormalities: Origin and Etiology in Abortion and Live Births, Human Genetics, Vogal F. and Sperling K., Eds., Berlin: Springer Verlag, 1987, pp. 233–234.Google Scholar
  2. 2.
    Stein, Z., Early Fetal Loss, Birth Defects, 1981, vol. 17, pp. 95–99.PubMedGoogle Scholar
  3. 3.
    Sanchez, J.M., Franzi, L., Collia, F., et al., Cytogenetic Study of Spontaneous Abortions by Transabdominal Villus Sampling and Direct Analysis of Villi, Prenat. Diagn., 1999, vol. 19, pp. 601–603.PubMedCrossRefGoogle Scholar
  4. 4.
    Gorski, J., Emanuel, B., Zackai, E., et al., Complex Chromosomal Rearrangements: Meiotic and Sister Chromatid Exchange Analysis, Am. J. Med. Genet., 1982, vol. 34, p. 126A.Google Scholar
  5. 5.
    Batista, D.A.S., Pai, G.S., and Stetten, G., Molecular Analysis of a Complex Chromosomal Rearrangement and a Review of Familial Cases, Am. J. Med. Genet., 1994, vol. 53, pp. 255–262.PubMedCrossRefGoogle Scholar
  6. 6.
    Stern, J.J., Darfmann, A.D., Gutierrez-Najar, A.J., et al., Frequency of Abnormal Karyotypes among Abortuses from Women with and without a History of Recurrent Spontaneous Abortion, Fertil. Steril., 1996, vol. 65, no. 2, pp. 250–253.PubMedGoogle Scholar
  7. 7.
    Ogasawara, M., Aoki, K., Okada, S., and Suzumori, K., Embryonic Karyotype of Abortuses in Relation to the Number of Previous Miscarriages, Fertil. Steril., 2000, vol. 73, no. 2, pp. 300–304.PubMedCrossRefGoogle Scholar
  8. 8.
    Hassold, T. and Jacobs, P., Trisomy in Man, annu. Rev. Genet., 1984, vol. 18, pp. 69–97.PubMedCrossRefGoogle Scholar
  9. 9.
    Hassold, T., Chromosome Abnormalities in Human Reproductive Wastage, Trends Genet., 1986, vol. 2, pp. 105–110.CrossRefGoogle Scholar
  10. 10.
    Kalousek, D.K., Pantzar, T., Tsai, M., and Paradice, B., Early Spontaneous Abortion: Morphologic and Karyotypic Findings in 3912 Cases, Birth Defects, 1993, vol. 29, pp. 53–61.PubMedGoogle Scholar
  11. 11.
    Strom, C.M., Ginsberg, N., Applebaum, M., et al., Analysis of 95 First-Trimester Spontaneous Abortion by Chronic Villus Sampling and Karyotype, J. Assist. Reprod. Genet., 1992, vol. 9, pp. 458–461.PubMedCrossRefGoogle Scholar
  12. 12.
    Stephenson, M.D., Awartani, K.A., and Robinson, W.P., Cytogenetic Analysis of Miscarriages from Couples with Recurrent Miscarriage: a Case-Control Study, Hum. Reprod., 2002, vol. 17, no. 2, pp. 446–451.PubMedCrossRefGoogle Scholar
  13. 13.
    Breed, A.S.P.M., Mantingh, A., Beekhuis, J.R., et al., The Predictive Value of Cytogenetic Diagnosis after CVS: 1500 Cases, Prenat. Diagn., 1990, vol. 10, pp. 101–110.PubMedCrossRefGoogle Scholar
  14. 14.
    Smidt-Jensen, S., Christensen, B., and Lind, A.M., Chorionic Villus Culture for Prenatal Diagnosis of Chromosome Defects: Reduction of the Long-Term Cultivation Time, Prenat. Diagn., 1989, vol. 9, pp. 309–319.PubMedCrossRefGoogle Scholar
  15. 15.
    Hatasaka, H.H., Recurrent Miscarriage: Epidemiological Factors, Definitions, and Incidence, Clin. Obstet. Gynecol., 1994, vol. 37, pp. 625–634.PubMedCrossRefGoogle Scholar
  16. 16.
    Epstein, C., Down Syndrome (Trisomy 21), The Metabolic and Molecular Bases of Inherited Disease, Scriver, C.R., Beaudet, A.L., Sly, W.S., and Vale, D., Eds., 8th ed., New York: McGraw-Hill, 2001, vol. 1, pp. 1223–1256.Google Scholar
  17. 17.
    Nicolaidis, P. and Petersen, M., Origin of Non-Disjunction in Human Autosomal Trisomies, Hum. Reprod., 1998, vol. 13, pp. 313–319.PubMedCrossRefGoogle Scholar
  18. 18.
    Jacobs, P.A., Frankiewicz, A., and Law, P., Incidence in Mutation Rates of Structural Rearrangements of the Autosomes in Man, Ann. Hum. Genet., 1972, vol. 35, pp. 301–319.PubMedCrossRefGoogle Scholar
  19. 19.
    Del Porto, G., D’Alessandro, E., Grommatico, P., et al., Chromsome Heteromorphisms and Early Recurrent Abortions, Hum. Reprod., 1993, vol. 8, no. 5, pp. 755–758.PubMedGoogle Scholar
  20. 20.
    James, D.K., Ster, P.J., Weiner, C.P., and Gonik, B., High Risk Pregnancy, Harcourt Brace, 1999.Google Scholar
  21. 21.
    Ward, B.E., Henry, G.P., and Robinson, A., Cytogenetic Studies in 100 Couples with Recurrent Spontaneous Abortions, Am. J. Hum. Genet., 1980, vol. 32, pp. 549–554.PubMedGoogle Scholar
  22. 22.
    Appels, R., Morris, R., Gill, B.S., and May, C.E., Chromosome Biology, Dordrecht: Kluwer, 1998.Google Scholar
  23. 23.
    Kausch, K., Haaf, T., Kohler, J., and Schmid, M., Complex Chromosomal Rearrangement in a Woman with Multiple Miscarriages, Am. J. Med. Genet., 1988, vol. 31, pp. 415–420.PubMedCrossRefGoogle Scholar
  24. 24.
    Hsu, L.Y., Yu, M.T., Richkind, K.E., et al., Incidence and Significance of Chromosome Mosaicism Involving an Autosomal Structural Abnormality Diagnosed Prenatally through Amniocentesis: A Collaborative Study, Prenat. Diagn., 1996, vol. 16, no. 1, pp. 1–28.PubMedCrossRefGoogle Scholar
  25. 25.
    Wells, S.R., Kuller, J.A., Rao, K.W., and Anysworth A.S., Multiple Congenital Malformations in an Infant Prenatally Diagnosed with Mosaicism for dup(lq) and del(Xq), Clin. Genet., 1996, vol. 49, pp. 216–219.PubMedCrossRefGoogle Scholar
  26. 26.
    Nielsen, J., Friedrich, U., Hreidarsson, A.B., and Veuthen, E., Frequency of 9qh+ and Risk of Chromosome Aberrations in the Pregnancy of Individuals with 9qh+, Hum. Genet., 1974, vol. 21, pp. 211–215.CrossRefGoogle Scholar
  27. 27.
    Imai, A. and Tamaya, T., Chromosome Abnormalities Associated with Recurrent Abortion, Commun. Mol. Pathol. Pharmacol., 1996, vol. 94, no. 3, pp. 323–326.Google Scholar
  28. 28.
    Tho, S.P., Byrd, J.R., and McDonough, P.G., Chromosome Polymorphism in 110 Couples with Reproductive Failure and Subsequent Pregnancy Outcome, Fertil. Steril., 1982, vol. 38, pp. 688–694.PubMedGoogle Scholar
  29. 29.
    Amiel, A., Sardos-Albertini, F., and Fejgin, M.D., Interchromosomal Effect Leading to an Increase Aneuploidy in Sperm Nuclei in a Man Heterozygous for Pericentric Inversion (inv. 9) and C-Heterochromatin, J. Med. Genet., 2001, vol. 46, pp. 245–250.Google Scholar
  30. 30.
    Petit, P. and Fryns, J.P., Two Pericentric Inversions inv(7)(p15;q32) and inv(9)(p11;q13) in a Male with Absence of vas deferens, Hum. Genet., 1983, vol. 64, no. 3, p. 303.PubMedCrossRefGoogle Scholar
  31. 31.
    Gardner, R.J.M. and Sutherland, G.R., Chromosome Abnormalities and Genetic Counselling, 2nd ed., New York: Oxford Univ. Press, 1996.Google Scholar
  32. 32.
    Phung, T.T., Byrd, J.R., and McDonough, P.G., Etiologies and Subsequent Reproductive Performance of 100 Couples with Recurrent Abortions, Fertil. Steril., 1979, vol. 32, p. 389.Google Scholar
  33. 33.
    Carp, H.M.B., Toder, V., Aviram, A., et al., Karyotype of the Abortus in Recurrent Miscarriage, Fertil. Steril., 2001, vol. 75, no. 4, pp. 678–682.PubMedCrossRefGoogle Scholar
  34. 34.
    Coulam, C.B., Stephenson, M., Stern, J.J., and Clark, D.A., Immunotherapy for Recurrent Pregnancy Loss: Analysis of Results from Clinical Trials, Am. J. Reprod. Immunol., 1996, vol. 35, no. 4, pp. 352–359.PubMedGoogle Scholar

Copyright information

© Pleiades Publishing, Inc. 2007

Authors and Affiliations

  • E. Tunç
    • 1
  • O. Demirhan
    • 1
  • C. Demir
    • 2
  • D. Taştemir
    • 1
  1. 1.Department of Medical Biology and GeneticsUniversity of CukurovaAdanaTurkey
  2. 2.Department of Obstetrics and GynecologyUniversity of CukurovaAdanaTurkey

Personalised recommendations