Validation of DNA probes for preimplantation genetic diagnosis (PGD) by fluorescence in situ hybridization (FISH) R1.

Background: Preimplantation genetic diagnosis (PGD) by fluorescence in situ hybridization (FISH) is being employed increasingly by medical centers and private companies. Validation of any clinical assay, particularly one with novel applications such as PGD by FISH, is of critical importance in the clinical setting. This importance is recognized by both the College of American Pathologists (CAP) and the American College of Medical Genetics (ACMG), who recommend validation of FISH assays in the clinical setting. Validation of FISH assays for PGD is especially significant, as only one or two cells (blastomeres) will be available for testing of a given embryo.

Methods: We have developed validation protocols for a variety of FISH assays, including sex identification, structural chromosomal aneusomy, and aneuploidy screening with the Vysis, Inc., PGT probe panel.

Results: Our validation results show good individual performance of commercially available probes, and decreasing overall efficiency as the number of probes included in an assay increases.