Definitions (term: definition):
Preimplantation Genetic Testing (PGT): Test performed to analyze DNA from oocytes or embryos for HLA typing or genetic abnormalities, including PGT-M (monogenic), PGT-A (aneuploidy), and PGT-SR (structural rearrangements).
Significant Health Problems or Severe Disability: A disability or impairment that substantially limits major life activities, expected to last at least 12 months or result in death (Federal SSD definition).
PGT-A: Preimplantation genetic testing for aneuploidy (chromosome copy number screening).
PGT-SR: Preimplantation genetic testing for structural rearrangements in parental chromosomes.
PGT-M: Preimplantation genetic testing for monogenic/single-gene disorders.
PGT-HLA: PGT to identify embryos that are HLA-compatible with an existing sick sibling for potential HSCT.
PGT-P: Preimplantation genetic testing using polygenic risk scores to estimate multigenic disease risk.
TE biopsy: Trophectoderm biopsy performed on blastocyst-stage embryos to obtain cells for genetic testing.
PGT-A: Preimplantation Genetic Testing for Aneuploidy.
PGT-M: Preimplantation Genetic Testing for Monogenic (single-gene) disorders.
PGT-SR: Preimplantation Genetic Testing for Structural Rearrangements.
PRS: Polygenic Risk Scores.