[Importance of genetic testing in couples with reproductive disorders]

To determine the prevalence of chromosomal aberrations in infertile couples undergoing in vitro fertilization (IVF).

Cytogenetic analysis of peripheral blood lymphocytes in the group of patients undergoing IVF. Detection of chromosomal aberrations in the fetuses after IVF.

Department of Medical Genetics and Fetal Medicine, Medical Faculty, Palacký University and the University Hospital, Olomouc.

Cultivation of peripheral blood lymphocytes or fibroblasts of amniotic fluid. Using fluorescent in situ hybridization in cases of mosaicism.

Out of 638 patients undergoing treatment for male or female infertility, 595 had normal karyotype and 43 (6.8%) had abnormal karyotype. There were detected 9 (1.4%) cases of balanced chromosomal rearrangements, 2 (0.31%) cases of deletion of Y chromosome, 2 (0.31%) cases of inversion, 2 (0.31%) cases of marker chromosome, 5 (0.78%) cases of gonosomal aneuploidy (47,XXY) and 23 (3.65%) cases of gonosomal mosaicism--out of the 22 (3.5%) cases of low-level mosaicism. In the small group of pregnant patients after IVF investigated for the risk of genetic disorders included in our study (n = 60) the frequency of chromosomal abnormalities was 9 (15%).

Our data show that a high number of infertile couples is affected by chromosomal aberrations which occur more frequently in females than in males. It is caused by high frequency of low-level gonosomal mosaicism in the group of infertile women. Chromosomal analyses are highly recommended before each IVF procedure.