Reframing analytical validation in preimplantation genetic testing: phase 1

Analytical validation is the foundation of reliable diagnostic testing, yet its principles are often inconsistently applied in preimplantation genetic testing (PGT). This review reframes analytical validation in the context of PGT, with a focus on three core pillars: precision, accuracy, and feasibility. Unlike conventional assays, PGT relies on picogram-levels of deoxyribonucleic acid from embryo biopsies, requiring deoxyribonucleic acid amplification and robust bioinformatic interpretation. These technical challenges introduce unique sources of variability and ambiguity. Given the lack of US Food and Drug Administration oversight and the increasing use of proprietary platforms, the responsibility for ensuring analytical validity largely rests with individual laboratories and clinicians. This review provides a structured framework to assess analytical performance in PGT assays, addressing amplification strategies, validation models, and key quality control metrics. By consolidating current evidence and best practices, we underscore the need for harmonized terminology, transparent reporting, platform-level validation, and the use of clinically meaningful thresholds. In doing so, we highlight the central role of analytical validation in bridging molecular innovation with responsible clinical application in reproductive medicine.