Preimplantation genetic diagnosis (PGD: PGT-M, PGT-SR)

Preimplantation genetic diagnosis (PGD) is a type of genetic testing that is performed on embryos before they are implanted in the uterus. PGD can identify embryos that have a genetic abnormality, which can increase the risk of miscarriage, stillbirth, and birth defects.

There are two types of PGD:

  • PGT-M: PGT-M stands for preimplantation genetic diagnosis for monogenic disorders. Monogenic disorders are caused by mutations in a single gene. PGT-M can be used to identify embryos that are affected by a monogenic disorder or that are carriers of a monogenic disorder.
  • PGT-SR: PGT-SR stands for preimplantation genetic diagnosis for structural rearrangements. Structural rearrangements are changes in the structure of chromosomes. PGT-SR can be used to identify embryos that have structural rearrangements that could lead to miscarriage, birth defects or other health problems.

PGD is performed during an in vitro fertilization (IVF) cycle. During IVF, eggs are retrieved from a woman's ovaries and fertilized with sperm in a laboratory. The resulting embryos are then cultured for a few days. A small number of cells are then removed from each embryo by a biopsy and tested for genetic abnormalities. The cells biopsied are those destined to become the placenta, not the embryo.

PGD has been shown to be effective in increasing the chances of a successful pregnancy in couples with a history of recurrent miscarriage due to chromosome translocation or due to genetic diseases. It has also decreased the transmission of dangerous genetic mutations.

The success rates of PGD vary depending on the type of genetic abnormality that is being tested for. The average pregnancy rate for PGD for monogenic disorders is about 70%. The average pregnancy rate for PGD for structural rearrangements is about 50%.

The cost of PGD varies depending on the clinic and the type of testing that is performed. We are happy to share with you anticipated costs pending what treatment you need. Some insurance plans may cover the cost of PGD, so we always check with your insurance company to see if your plan covers this treatment.

If you are considering PGD, contact us today to discuss in more detail and determine if PGD is right for you.

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