Indications for appropriate referral to clinical genetics services - preimplantation genetic diagnosis

What PGT is

  • Preimplantation genetic diagnosis (PGD/PGT) allows embryos created via IVF to be tested for a specific known genetic condition before transfer, allowing a couple at high genetic risk to select an unaffected embryo rather than pursuing prenatal diagnosis with the possibility of pregnancy termination
  • An option increasingly considered by couples with a known familial pathogenic variant (autosomal dominant, autosomal recessive, or X-linked condition) who wish to avoid transmitting the condition and prefer not to use prenatal diagnosis/termination as their risk-management approach

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