Abstract
Preimplantation genetic diagnosis (PGD) was introduced more than 20 years ago and represents an established clinical procedure in assisted reproduction and genetic practices. This is now a reality that couples at genetic risk have a practical option to reproduce with less fear of producing offspring with genetic disorders. PGD has presently been applied to more than 220 different genetic disorders, with an over 99% accuracy rate in leading PGD centers. Its application has been expanding beyond traditional indications and includes some conditions determined by de novo mutations, common disorders with genetic predisposition, and HLA typing – with or without testing for causative genes. Despite recent controversy regarding the usefulness of PGD for assisted reproduction, the current developments in aneuploidy testing by microarray technology may improve preimplantation aneuploidy testing for the preselection of embryos with higher developmental potential, which is still the major challenge in improving IVF. This also makes it possible to combine the testing for different indications in one comprehensive procedure involving aneuploidy testing for 24 chromosomes, together with PGD for translocations, single-gene disorders and preimplantation HLA typing. This article describes these expanding applications of PGD, which are gradually becoming an integral part of prenatal care and assisted reproduction.
Financial & competing interests disclosure
The author has no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.
No writing assistance was utilized in the production of this manuscript.
Notes
Reproduced from [Kuliev A, Rechitsky S; Manuscript in Preparation].