The Importance of Genetic Investigation in Couples withReproduction Impairment

Overview

Objective:
To determine the prevalence of chromosomal aberrations in infertile couples undergoingin vitro fertilization (IVF).Design: Cytogenetic analysis of peripheral blood lymphocytes in the group of patients undergoingIVF. Detection of chromosomal aberrations in the fetuses after IVF.Setting: Department of Medical Genetics and Fetal Medicine, Medical Faculty, Palacký Universityand the University Hospital, Olomouc.Methods: Cultivation of peripheral blood lymphocytes or fi broblasts of amniotic fl uid. Using fl uorescentin situ hybridization in cases of mosaicism.Results: Out of 638 patients undergoing treatment for male or female infertility, 595 had normalkaryotype and 43 (6.8%) had abnormal karyotype. There were detected 9 (1.4%) cases of balancedchromosomal 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 disordersincluded in our study (n=60) the frequency of chromosomal abnormalities was 9 (15%).Conclusions: Our data show that a high number of infertile couples is affected by chromosomalaberations which occur more frequently in females than in males. It is caused by high frequencyof low-level gonosomal mosaicism in the group of infertile women.Chromosomal analyses are highly recommended before each IVF procedure.

Key words:
chromosomal abnormalities, infertility, in vitro fertilisation