Systematic assessment of allele dropout in preimplantation genetic testing for monogenic disorders: Incidence, detection, and clinical testing strategies

The authors aimed to systematically evaluate the incidence of allele dropout in preimplantation genetic testing for monogenic disorders (PGT-M) and to assess strategies to minimize its clinical impact. They found a 10.78% overall allele dropout rate, with significant differences in detection rates between next-generation sequencing (NGS) and Sanger sequencing methods. The study suggests that the NGS-based panel is a preferred first-line testing strategy, potentially allowing for the omission of routine Sanger sequencing in clinical practice.