Preimplantation Genetic Testing

Abstract

There have been great advances in molecular screening and diagnostic techniques in the field of assisted reproductive technology, and many of these advances have come in the field of reproductive genetics. Broadly, preimplantation genetic diagnostics can be utilized to identify a normal embryo among those which contain a single gene disorder (preimplantation genetic testing—monogenic disorders or PGT-M) or can be utilized to identify embryos that have gained or are missing large segments of DNA or whole chromosomes (preimplantation genetic screening—PGT-SR or PGT-A). The PGTs have a wide variety of applications and can be used to identify embryos which have the highest potential of forming a normal, healthy offspring. There are challenges in this process including safely obtaining genetic material in the form of an embryo biopsy and appropriate and accurate application of amplification and analysis strategies. With the advent of proper validation and utilization, PGT-M, PGT-SR, and PGT-A have been shown to be useful in improving reproductive outcomes and will be discussed in this chapter.