Pre-implantation genetic diagnosis (PGD) is a genetic test that may be performed during IVF treatment. PGD tests reduce the risk of genetic defects in an offspring by screening embryos prior to implantation and identifying embryos that are not at risk of developing a genetic disease.

Couples often consider PGD testing if they:

  • have a history of a genetic disease in their families
  • are carriers of single gene disorders
  • are carriers of sex-linked disorders

In PGD testing, a genetic biopsy of 1-2 cells is obtained from an embryo. These cells are sent to a reference laboratory to screen for genetic abnormalities. Embryos that do not have these abnormalities are selected for transfer to the uterus.

If you live outside of the United States, you do not need to travel here for PGD testing. The biopsy can be performed by an embryologist at your IVF clinic, which will send the biopsy to a reproductive genetics lab.

PGD testing helps couples build a healthy family by preventing the transmission of a genetic disorder to a future baby. Genetic disorders diagnosed by PGD include:

  • Autosomal Dominant/Recessive Polycystic Kidney Disease
  • Thalassemia / Beta Thalassemia
  • Cystic Fibrosis
  • Duchenne Muscular Dystrophy
  • Fragile X Syndrome
  • Hemophilia A
  • Hemophilia B
  • Huntington’s disease
  • Multiple endocrine neoplasia, type 2A
  • Sickle Cell Anemia
  • Spinal Muscular Atrophy
  • Tay Sachs