Preimplantation Genetic Diagnosis (PGD) Treatment Program
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Preimplantation Genetic Diagnosis (PGD) is a technique that can be used during in vitro fertilization (IVF) procedures to test embryos for genetic disorders prior to their transfer to the uterus. PGD makes it possible for couples with serious inherited disorders to decrease the risk of having a child who is affected by the same problem. PGD can be considered for couples who have been psychologically traumatized by repeated pregnancy loss due to genetic disorders. It is also appropriate in couples who already have one child with a genetic problem and are at high risk of having another.
Genetic Disorders
PGD can be performed on an isolated embryo by removing a single cell under microscopic guidance and analyzed for the presence of genetic disorders. Once a diagnosis is obtained, the unaffected, healthy embryos are replaced in the female's uterus. Not all disorders can be diagnosed with PGD, however the most common disorders that can be detected are Cystic Fibrosis, Down syndrome, Tay-Sachs disease, Hemophilia A, and Turner's syndrome among others.
The PGD Procedure
PGD is done together with in vitro fertilization (IVF). The first step is to determine the genetic conditions that need to be identified (for example, Tay Sachs disease, muscular dystrophy, hemophilia or cystic fibrosis). The woman is then given fertility drugs to stimulate the ovaries to produce many eggs. The eggs are retrieved and fertilized with husband's sperm into embryos. The embryos are grown for 2-3 days in the incubator. Using a high-power microscope, a single cell (blastomere) is removed from each embryo and is tested for the genetic trait of interest. The normal embryos are identified and separated from the affected abnormal embryos. The normal embryos are continued in culture to the blastocyst stage (day 5 or 6 after egg retrieval) and 2 or 3 are replaced into the uterus. The affected embryos are discarded.
Although PGD may appear simple, it requires a very skilled embryologist, sophisticated embryology laboratory and state-of-the-art genetic testing center. January 2001, the San Diego Fertility Center was the first fertility program in San Diego to offer this service to the community.
Last updated:
October 26, 2005
Authors: Dr. William Hummel, Dr. Michael Kettel, and Bill Venier
