First attempts in preimplantation genetic diagnosis: genetic analysis]

Preimplantation genetic diagnosis is a new approach for the prevention of genetic disorders, which provides a healthy pregnancy avoiding the need for its possible termination. The combination of in vitro fertilization techniques and single cell molecular genetic diagnosis allows only unaffected embryos to be selected for transfer to the uterus. It is an acceptable alternative of prenatal diagnosis for certain couples. Here we report our first attempts in the application of fluorescent PCR for sex determination and the detection of the delta-F508 mutation in human blastomeres. We modelled clinical PGD situations as we performed sex determination on 23 preembryos. Sex determination was successful is 20 preembryos (83%). We performed the detection of the delta-F508 mutation on 23 preembryos, which was successful in 20 preembryos (87%). Our experience suggests, that the established fluorescent PCR analysis is a reliable method for PGD, which enables us to apply it for clinical preimplantation genetic diagnosis.