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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

Abstract

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.

Keywords

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.

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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

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