Understanding PGT-M: A Guide for Clinicians

Abstract Preimplantation genetic testing for monogenic conditions (PGT-M) is the process of testing embryos created in vitro to screen for specific monogenic conditions. Embryos unaffected by the condition of interest can then be selectively transferred to the uterus to establish a pregnancy. PGT-M is a reproductive option for individuals with an increased chance of having a child with a monogenic condition. By enabling the selection of unaffected embryos, it reduces the likelihood of transmitting the condition. It also enables the conception of a biologically related child, while minimizing the potential need to consider termination of pregnancy. For these reasons, PGT-M often emerges as the preferred reproductive option for individuals in this indication group. As uptake of PGT-M continues to grow, clinicians are increasingly required to navigate the range of technical, clinical, practical, and ethical considerations involved in its provision. This review offers a practical overview of PGT-M—covering its definition, regulatory frameworks, and technical development, through to laboratory work-up and clinical application. It also explores the limitations, ethical challenges, and experiences of PGT-M users, with the aim of supporting clinicians in the delivery of PGT-M care.