Cytogenetic analysis in couples with recurrent spontaneous abortion

Recurrent abortion is a difficult medical problem happening in about 1-2% of fertilewomen. Most spontaneous miscarriages which happen in the first and second trimesters are caused bychromosomal abnormalities.

The present study tries to find the rate of chromosomal abnormalities in couples withrecurrent pregnancy loss.

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 andcytomegalovirus (CMV) were analysed by ELIZA. In 88 couples karyotyping was conducted by analysisof G and/or C banding. Metaphase spreads were made from phytohaemaglutinin-stimulated peripherallymphocytes using standard cytogenetic techniques. The chromosomal status was analyzed usingCytoVision 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 assignificance.

Most of the patients had 3 repeated abortions (61.2%). Cytogenetic analysis performed for 88couples 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 coupleshad fifth degree of relationship (89 out of 165).

Our results showed that 12.5% of the couples with missed abortion had an abnormalkaryotype, with no other abnormality. Cytogenetic findings in spontaneous aborted specimens couldprovide valuable information for genetic counseling and prenatal care in future pregnancies in coupleswith a history of repeated pregnancy loss.