Chapter on PGT-M in the Manual of Assisted Reproductive Technologies and Laboratory Sciences- 2nd Edition (2025).

Preimplantation genetic testing for monogenic conditions (PGT-M) is a valued reproductive option for couples who have family history of a single gene condition or monogenic disorder. Rapid developments in molecular genetics and sequencing technologies have markedly increased the resolution of PGT-M testing on few cells collected at the embryonic stage. In spite of these advancements, there are many clinical and technical challenges of PGT-M that need attention of both clinicians and patients. A laboratory based genetic counsellors are best positioned to handle the technical aspects and provide tailored pre-test and post-test counselling for patients. The chapter is an attempt to give a bird eye view of current PGT-M landscape.