Clinical Study

Parental karyotype and genetic markers for thrombophilia in recurrent miscarriage

  • Çetin Saatçi
  • Gökalp Öner
  • Sener Tasdemir
  • Aslihan Kiraz
  • Yusuf Özkul
  • Munis Dündar
  • Ipek Iptisam Müderris

Received Date: 14.09.2007 Accepted Date: 21.05.2008 J Turk Ger Gynecol Assoc 2008;9(3):139-143


In the present study, our aim is to examine the frequency of parental chromosomal aberrations and thrombophilia causes such as factor V Leiden (FVL), methylenetetrahydrofolate reductase (MTHFR), and prothrombin gene (FII) mutations in the recurrent miscarriage (RM)cases.


A total of 120 patients admitted to our service with RM that was diagnosed upon three or more consecutive spontaneous miscarriages before 24 weeks of gestation between 2005- 2007. During the study period the women were not pregnant. Both partners were karyotyped as part of the primary investigation and parental chromosomal aberrations were investigated. Furthermore common inherited thrombophilia markers were studied. Genotype analysis for FVL, MTHFR, and FII mutations were assessed by polymerase chain reaction analysis.


A chromosomal aberration was found in 16 couples (13.3%). Maternal and paternal inversions were more commonly seen chromosomal abnormalities (56.25%). In 65 (54.2%) patients at least one thrombophilia marker was diagnosed, whereas 55 (45.8%) patients had no thrombophilia. Mean age of the patients increased with the number of RM (p<0.001), and chromosomal aberrations significantly increased with the presence of mutation of genetic markers for thrombophilia (p=0.015). The presence of a chromosomal aberration (OR= 1.09; 95% CI, 0.84-1.42) or GMT mutations (OR= 1.81; 95% CI, 0.58-5.68) did not increased the risk of a subsequent pregnancy loss.


In this study, the frequency, relations, and type of chromosomal abnormalities and mutations of genetic markers of thrombophilia in parents with RM were presented.

Keywords: pregnancy, recurrent miscarriages, genetic markers