Integration of reproductive medicine and reproductive genetics provides the possibility to use preimplantation prenatal genetic diagnosis in earliest genetic prevention also in our country as well as to improve it for the couples with reproductive problems and their families. The specialized genetic counselling is recommended to all couples with their problems. In 60% it provide better health care and in 40% couples it indicates periconceptional and prenatal genetic prevention. This counselling is obligatory for suggested oocyte donors. Cytogenetic examination was performed in both partners with reproductive failure. The aberrations of heterochromosomes represent the majority of chromosome anomalies, detected in 4.6% - 5.6% male and female partners. In males, chromosome anomalies were disclosed only in males with sperm count lower that 20 x 10 6 /ml from 247 examined. The most frequent CFTR mutations are screened in all couples. The 19% of delta F 508 carriers was revealed in males with non obstructive azoospermia or oligospermia with sperm count lower than 1 x 10 6 /ml. In men with severe reproductive problems the aneuploidy detection by FISH in sperm is recommended in order to disclose the degree of chromosome aneuploidy. All methods of reproductive medicine and reproductive genetics including prenatal diagnosis are integrated in one center to prepare implementation of preimplantation genetic diagnosis. The success of oocyte aspiration was in 96% of stimulated cycles. The average of 4.16 embryos for transfer, 95.6% of embryo transfer, 24.5% of clinical gravidities and 16.7% of delivered babies per transfer were achieved. ICSI assured 93% transfer rate per successfully stimulated cycle. Successful FISH analysis of blastomers and sperms after 0.075 M KCl hypotonization made possible detection of aneuploidies of chromosomes X, Y, 13, 18 and 21. The nested PCR and quantitative fluorescent PCR were introduced for gene mutations examination and aneuploidy detection in single cells. Experimental verification of these methods on embryos unsuitable for kryopreservation or embryonal transfer is obligatory before the clinical implication of preimplantation diagnosis.

        Key words: reproductive medicine, reproductive genetics, preimplantation genetic diagnosis, chromosome aberrations, azoospermia, oligospermia, CFTR mutations, FISH, sperms, oocytes, blastomeres, quantitative fluorescent PCR, genetic councelling