Абстрактный

Preimplantation Genetic Testing (PGT) for cardiac disease.

Anver Kuliev, Svetlana Rechitsky

The application of Preimplantation Genetic Testing (PGT) is no longer limited to conditions presented at birth, but also applied for the adult onset disorders with genetic predisposition, which have never been an indication for prenatal diagnosis. One of such conditions is the inherited predisposition for cardiac disease for which no pre-clinical diagnosis and preventive management exist, with premature or sudden death frequently representing the only clinical realization of the predisposing genes. We have presently performed 75 PGT cycles for 47 couples at risk for producing offspring with predisposition to cardiac diseases, resulting in 37 clinical pregnancies and birth of 32 healthy children, free of genes predisposing to these conditions. This systematic experience demonstrates that PGT may now be a practical means for avoiding the risk of premature or sudden death in the offspring of carriers of a cardiac disease predisposing genes.