Pre-implantation Genetic Diagnosis (PGD)


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Pre-implantation Genetic Diagnosis (PGD)

Pre-implantation Genetic Diagnosis (PGD)

Pre-implantation genetic diagnosis (PGD) test enables our patients with an inheritable condition in their family to avoid passing it on to their offspring. Also, PGD is a test to check the chromosomes (genetic material) of the embryos that are created through IVF, for abnormalities.

We might recommend PGD especially if:

  •  previous pregnancies that is ended because of a serious genetic condition
  •  have a child with a serious genetic condition
  •  family history of a serious genetic condition
  •  family history of chromosome problems or
  •  advanced female age

Genetic conditions that can be tested for during PGD

When either male or female or both partners  are carriers of the genetic mutation that could lead to a serious medical condition in the child, pre-implantation genetic diagnosis (PGD) enables people with an inheritable condition in their family to avoid passing it on to their children. It involves checking the genes and/or chromosomes of embryos created through IVF.

If the parents to be are carriers for genetic diseases, they have the option of having IVF and PGD to screen their embryos prior to transferring them to the uterus. Not all diseases can be tested for in this manner. Single gene disorders are caused through the inheritance of a defective gene. These disorders are classified as either recessive or dominant. A recessive disorder requires 2 bad copies of the gene to pass the disease on to the baby. With a dominant single gene disorder only one copy of the defective gene is needed to cause the disease.

The Fluorescent in Situ Hybridization (FISH) procedure has been in use for screening 13, 15, 16, 17, 18, 21, 22, X and Y chromosomes to detect for irregularities.

The most common single gene disorders that PGD has been used for are:

  • Cystic fibrosis
  • Tay-Sachs disease
  • Spinal muscular atrophy (SMA)
  • Hemophilia
  • Sickle cell disease
  • Duchennes muscular dystrophy
  • Thalassemia


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