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

Systematic assessment of allele dropout in PGT-M: incidence, detection, and clinical testing strategies to minimize clinical impact

This retrospective Fertility and Sterility study systematically evaluates the incidence and clinical implications of allele dropout (ADO) in preimplantation genetic testing for monogenic disorders (PGT-M). ADO — random non-amplification of one of two alleles in a single cell — is a major source of diagnostic error in PGT-M. The authors quantify incidence, evaluate detection methods, and propose practical testing strategies to minimize impact.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Allele dropout has been known since PGT-M's early days but remains underassessed in daily practice. This systematic evaluation provides reference incidence data and validates practical strategies to improve diagnostic reliability — a direct contribution for laboratories performing PGT-M.

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 7/10