[First case of successful pregnancy after preimplantation genetic diagnosis]

Preimplantation genetic diagnosis is introduced for prevention of genetic disorders. The combination of in vitro fertilization technique and single cell molecular genetic diagnosis allows only unaffected embryos to be selected for embryotransfer, providing a healthy pregnancy and so also avoiding the need for its possible termination.

The authors report the first successful case of the clinical application of preimplantation genetic diagnosis in Hungary, resulting the birth of an unaffected baby. Preembryonal biopsy and subsequent fluorescent-PCR analysis of the blastomeres taken from the preembryos of a woman who is a carrier for Duchenne muscular dystrophy was performed. Sexing of the preembryos by X and Y chromosome specific primers were performed and three female preembryos were found.

All three preembryos were transferred into the uterus, which resulted a singleton pregnancy, resulting the birth of a healthy female baby. The authors are offering preimplantation genetic diagnosis with sexing for couples, who are at risk of having a child with X-linked diseases, or are carriers for the delta-F508 mutation of cystic fibrosis.

The application of this diagnostic tool is also planned for other monogenic disorders.