The aim of this study was to evaluate the type and frequency of chromosomal aberrations, Y chromosome microdeletions and CFTR gene mutations in infertile men examined in Sanatorium Pronatal between October 2002 and September 2006. Material and methods: Metaphase chromosomes of 1,389 infertile men, including 130 men with azoospermia and 449 with oligozoospermia were analysed using Giemsa-trypsin-Giemsa banding. Y chromosome microdeletions were examined using multiplex PCR method in 607 infertile men, including 116 with azoospermia. Genetic analysis of CFTR locus was performed using combination of multiplex PCR kit Elucigene 29 and Slavic mutation (CFTRdel21kb) examination. This approach comprises 92.47% of all CFTR mutations in population. Results: Chromosome aberrations were found in 3.2% of infertile men. Y chromosome microdeletions were detected in 1.6% infertile men. CFTR mutations were found in 3.0% examined patients. Strong association of all three investigated parameters with azoospermia and severe oligoasthenozoospermia when compared with normozoospermia was observed. Conclusions: The high rate of abnormalities observed in studied parameters among infertile men suggests the need for routine genetic analysis prior to employment of assisted reproduction. The role of clinical geneticist in treatment of infertile couples is irreplaceable.
In sperms of infertile men is higher incidence of chromosome aneuploidy. Consequently for embryos developed from these sperms PGD is indicated. Material and methods: In our laboratory were made 331 PGD cycles. 25 of them were counted among group of indication, in which embryos were fertlized with sperm after TESA. PGD was performed on blastomeres from three-day old embryo in two hybridisation cycles. During this procedure we evaluated 8 chromosomes (13, 15, 16, 18, 21, 22, X, Y). Results: Total mean age of patients with spermatogenic failure was 32.24. This group contained 25 couples and 184 embryos were evaluated. From this amount 75 preimplantation embryos did not show numerical aberrations for detected chromosomes and 22 of them were transferred. 31.8 % patients were pregnant (this number related to embryotransferr). On the other side more than 59 % investigated blastomeres showed a numerical chromosomal abnormality. Monosomy chromosome 16 and aneuploidy of sex chromosomes were observed the most frequently. Conclusions: The incidence of aneuploidies in sperm after TESA should correlate with incidence of genetic abnormalities in embryo. Our results are similar to literature, where sex chromosomes aneuploidies the most frequently occur in sperms after TESA. In these studies the chromosome 16 was not analysed. The higher incidence of monosomy of this chromosome can be caused by low number of evaluated blastomeres.