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Review
. 2020 Jan;36(1):6-11.
doi: 10.1080/09513590.2019.1641194. Epub 2019 Jul 18.

Preimplantation genetic diagnosis (PGD) and genetic testing for aneuploidy (PGT-A): status and future challenges

Romualdo Sciorio  1 , Luca Tramontano  2 , James Catt  3
Affiliations
Free article
Review

Preimplantation genetic diagnosis (PGD) and genetic testing for aneuploidy (PGT-A): status and future challenges

Romualdo Sciorio et al. Gynecol Endocrinol. 2020 Jan.
Free article

Abstract

The world's first in vitro fertilization (IVF) baby was born in July 1978 in the UK. Since then, more than 7 million infants have been born worldwide as a result of IVF. Preimplantation genetic diagnosis (PGD) was introduced in the late 1980s for couples at risk of transmitting a genetic abnormality to their children. From the mid-1990s, this technology has been employed as an embryo selection tool for patients undergoing IVF and has been known as preimplantation genetic screening (PGS). The aim of this practice has been to identify and select euploid embryos for transfer, in order to increase efficacy of IVF cycle, ensure higher implantation rates or at least decreased time to pregnancy. In the early days, fluorescent in situ hybridization (FISH) technology was used for genetic analysis. New advancements in both biopsy and cytogenetic have made possible the improvement of PGD and PGT-A analysis. Currently, a variety of technologies have been implemented to individuate euploid embryos to be preferentially transferred in IVF treatments. The purpose of this review is to clarify the differences between PGD and PGT-A, and to discuss current indications and requirements for embryo biopsy and genetic methodologies used.

Keywords: Preimplantation genetic diagnosis (PGD); blastocyst biopsy; cleavage stage embryo biopsy; preimplantation genetic testing for aneuploidy (PGT-A).

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