Current status of preimplantation diagnosis for single gene disorders

Preimplantation genetic diagnosis (PGD) has become an established procedure for avoiding the birth of affected children with single gene disorders. PGD is performed through polar body or blastomere biopsy, which has no deleterious effect on pre- and post-implantation development. This review describes the most recent developments and current changes in the spectrum of conditions for which PGD has been applied. The most recent applications of PGD include congenital malformations, blood group incompatibility and an increasing number of late onset disorders with genetic predisposition, all of which have not previously been diagnosed using PGD. Despite ethical concerns, PGD has also been used for preselection of unaffected and HLA matched embryos, and recently for preimplantation HLA matching without testing for the causative gene. This extends the practical value of PGD, with its utility being no longer limited to prevention of single gene disorders, by expanding it to treatment of siblings requiring stem cell transplantation.