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Preimplantation genetic diagnosis

Glenn L Schattman, MD
Section Editor
Louise Wilkins-Haug, MD, PhD
Deputy Editor
Vanessa A Barss, MD, FACOG


There are two types of preimplantation genetic testing:

Preimplantation genetic diagnosis (PGD) is performed on cell(s) removed from a preimplantation embryo or a polar body from an oocyte. The goal is to establish a pregnancy that is unaffected by specific genetic characteristics, such as a known heritable genetic mutation or chromosomal abnormality (eg, translocations) carried by one or both biological parents. It is also used to select embryos for transfer that have specific characteristics, such as a particular gender or compatible HLA type.

Preimplantation genetic screening (PGS) is performed on cell(s) removed from a preimplantation embryo or a polar body from an oocyte. The goal is to identify de-novo aneuploidy in embryo(s) of couples presumed to be chromosomally normal. Theoretically, avoiding transfer of aneuploid embryos will reduce the risk of pregnancy failure and improve the probability of conceiving a viable pregnancy [1].

When preimplantation genetic testing is planned, assisted reproductive technology (ART) must be used for conception even if infertility is not an issue for the couple. ART is expensive, intrusive, and associated with risks, such as ovarian hyperstimulation syndrome, multiple gestations and risks to singleton gestations, that occur less frequently in natural conceptions. (See "In vitro fertilization" and "Intracytoplasmic sperm injection".)

This topic will discuss issues related to PGD. PGS is reviewed separately. (See "Preimplantation genetic screening".)

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Literature review current through: Nov 2017. | This topic last updated: Nov 18, 2016.
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