RESEARCH – January 2004

Cytogenetic disorders in infertile couples


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Infertility is the inability of a couple to achieve pregnancy or to carry pregnancy to term after two years of unprotected intercourse. About 15% of couples are infertile because of different reasons. The aim of the study was to find out the incidence of chromosomal aberrations in infertile couples in Estonia. The chromosomes of 17 infertile couples (17 females and 17 males) from peripheral blood cultures using GTG and C banding methods were analysed. Patients signed an informed consent and filled in a questionnaire on general data of the family and the duration of infertility.
The incidence of chromosomal aberrations was high. Chromosome analyses of 17 infertile couples revealed aberrations in 8 families (47.1%). Chromosomal aberrations were found in six men (35.5%) among whom 3 men (17.6%) had autosomal aberrations and 3 men (17.6%) had numerical sex chromosome abnormalities. The females had chromosome abnormalities in 3 cases (17.6%) among which autosomal and gonosomal structural abnormalities were found in 2 cases (11.8%) and gonosomal numerical anomaly was found in one infertile woman (5.4%). In one couple, both the female and the male had chromosomal abnormality. In addition, chromosomal variants, mostly 9qh+, were found in 6 cases (17.6%). More than half of infertile families (56.3%) were studied quite late cytogenetically, sometimes even after six years of infertility. The incidence of chromosomal aberrations in infertile couples in Estonia was high, indicating the necessity to continue this study. For this purpose, cooperation should be intensified between medical geneticists, andrologists and gynaecologists. It is very important to make chromosome analyses of infertile couples quite early, especially before in vitro fertilization, to offer infertile couples appropriate genetic counselling.