Application of preimplantation genetic diagnosis makes it possible to transfer only embryos unaffected by a certain genetic disorder. The authors have applied the combination of trophectoderm biopsy and vitrification in order to detect a monogenic disorder. Previously diagnosed type 1 neurofibromatosis of the woman was the indication for genetic examination. In vitro fertilisation and embryo culture was performed using sequential culture mediums. Seven blastocysts could be sampled on the fifth day and were vitrified subsequently. Two blastocysts turned out to be genetically normal based on the result of genetic examination using polimerase chain reaction. A healthy boy was delivered following the transfer of warmed blastocysts and an uneventful singleton pregnancy.
Keywords: embriótranszfer; in vitro fertilization; in vitro fertilizáció; láncreakció; polimeráz; polymerase chain reaction; preimplantation genetic diagnosis; preimplantációs genetikai diagnosztika; vitrification; vitrifikáció.