Cytogenetic analysis in couples with recurrent spontaneous abortion

Background: Recurrent abortion is a difficult medical problem happening in about 1-2% of fertile women. Most spontaneous miscarriages which happen in the first and second trimesters are caused bychromosomal abnormalities. Objective: The present study tries to find the rate of chromosomal abnormalities in couples with recurrent pregnancy loss. Materials and Methods: In total 165 couples were referred to genetic counselling clinic with a history ofat least three previous abortions. In all women antibodies against toxsoplasmose, rubella and cytomegalovirus (CMV) were analysed by ELIZA. In 88 couples karyotyping was conducted by analysis of G and/or C banding. Metaphase spreads were made from phytohaemaglutinin-stimulated peripherallymphocytes using standard cytogenetic techniques. The chromosomal status was analyzed using CytoVision Ultra ver.4.0 from Applied Imaging. The 2-test and ANOVA were used for statistical evaluation. The level of p<0.05 was considered as significance. Results: Most of the patients had 3 repeated abortions (61.2%). Cytogenetic analysis performed for 88 couples and karyotypes of 12.5% of them were abnormal. The majority of them had monosomy X(6.82%), followed by balanced translocation (2.27%). The number of female carries chromosomalabnormality exceeded significantly than of male. Coefficient of inbreeding in more than 50% of couples had fifth degree of relationship (89 out of 165).Conclusion: Our results showed that 12.5% of the couples with missed abortion had an abnormal karyotype, with no other abnormality. Cytogenetic findings in spontaneous aborted specimens could provide valuable information for genetic counseling and prenatal care in future pregnancies in couples with a history of repeated pregnancy loss.

Keywords:

Recurrent abortion , Chromosomal abnormality , Monosomy X