Preimplantation genetic diagnosis for hereditary cancers

Abstract

Preimplantation genetic diagnosis (PGD) is a technique used to test embryos created by in vitro fertilization for disorders caused by inherited mutations in single genes. Embryos free from the germline mutation identified in the couple are transferred into the uterus to allow implantation and pregnancy. PGD enables couples with inherited disorders a means of ensuring that their children are unaffected by the disease without the need of termination of affected pregnancies. PGD for inherited susceptibilities to cancer encompasses a diverse group of genes with variable degrees of penetrance and expressivity often making genotype/phenotype relationships hard to establish. This is one of the factors that makes PGD a preferred option to potential parents compared to prenatal diagnosis and termination for this group of disorders. © 2012 Springer Science+Business Media B.V.