Preimplantation Genetic Diagnosis for Congenital Immunodeficiencies

Abstract

Preimplantation genetic diagnosis [PGD] is presently a realistic option for at risk couples to avoid affected pregnancies and have a genetic disease free offspring of their own. PGD has been also performed together with HLA typing for couples with children affected by congenital disorders, requiring the HLA identical stem cell transplantation therapy. As the HLA matched stem cell transplantation is known to significantly improve or completely replenish the immune system, PGD was applied as an alternative treatment strategy for congenital immunodeficiencies, so that the couples could have unaffected children, who are also HLA compatible to serve as stem cell donor progeny for the affected siblings. We present here our experience of PGD cycles for inherited immunodeficiencies, which is presently the world’s largest series of PGD for this group of diseases, for which there is still no available treatment other than stem cell transplantation.