Preimplantation genetic diagnosis

This article aims to inform about the current practices in Preimplantation Genetic Diagnosis (PGD) from a United Kingdom perspective. Progress in the field has been marked over the last decade and new techniques have superseded traditional analysis. The review moves from governance and data collection for PGD to the patient journey. We discuss embryo biopsy and the challenges of analysis when starting with a small amount of DNA. Segments are introduced which introduce basic principles to allow better appreciation of the tests and when they should be applied. We discuss PGD for single gene disorders by preimplantation genetic haplotyping, including for autosomal dominant de novo mutations. Translocations are also discussed and PGD by microarray analysis. We conclude by considering next generation sequencing with the advantages and challenges this may provide to the field.