Preimplantation genetic diagnosis for monogenic inherited disorders

Preimplantation genetic diagnosis (PGD) today is worldwide a well established alternative option to prenatal diagnosis for families with Mendelian disorders. The clinical pregnancy rates obtained at good PGD centers correspond to those of regular intracytoplasmic sperm injection (ICSI) cycles without genetic testing during fertility treatment. Prior to PGD for monogenic inherited disorders a comprehensive non-directive counseling of the interested couple on the possibilities of PGD is required, but also on its risks and limitations, covering both, genetic aspects as well as reproductive medicine. The performing PGD center has to provide reliable interdisciplinary medical care as well as quality management for the genetics and IVF laboratory including their interface, accounting for the particular requirements of single-cell genetic testing.