Abstrakt

Pre-implantation genetic diagnosis (pgd) for heart disease determined by genetic factors

Anver Kuliev, Tatiana Pakhalchuk and Svetlana Rechitsky

The application of PGD has currently been extended to an increasing number of common disorders with genetic predisposition, including inherited heart disease, the prevention and treatment of which presents an important challenge. The major problem is that no pre-clinical diagnosis and preventive management exists, with high risk of premature or sudden death. We previously described the first series of 18 PGD cycles for 5 different inherited cardiac diseases, and showed feasibility and extremely high utility of preventing inheritance of genes predisposing to these conditions. The present paper summarizes the cumulative experience of 51 PGD cycles for 14 cardiac diseases, determined by 23 different gene mutations. This resulted in the embryo transfer in 44 of 51 PGD cycles, yielding 29 (66 %) unaffected pregnancies and birth of 27 healthy, disease predisposition free children. This is the world™s largest PGD experience, demonstrating important clinical implications of PGD for preventing inheritance of predisposing genes for heart disease, as practical means for avoiding the risk of mortality or premature or sudden death in offspring of couples carrying a heart disease predisposing genes.