What is PGD?

We are often asked about PGD - what is it? who does it help? how does it work? This post will attempt to answer these questions at a high level. Individual questions are welcome and will be answered.

PGD (preimplantation genetic diagnosis) is a laboratory procedure that is used in conjunction with in vitro fertilization (IVF) to help detect certain diseases. Families affected by essentially any inherited disease can reduce the risk their offspring will suffer that genetic disorder by working with an experienced PGD team. Even families in search of a bone marrow donor may be able to use PGD to bring a child into the world that can provide matching stem cells. 20/20 recently ran a story on a family who chose this path (12/21/2006).

The PGD lab works with your IVF clinic to offer PGD as an option to couples who are at heightened risk of having a child with an inherited disorder. Once DNA samples and test results are received, PGD scientists build a probe specifically for your family. When the probe is complete, the couple proceeds with their IVF cycle. The resulting embryos are biopsied (usually on day 3 at the 8-cell state) and a single cell is sent to the PGD lab for analysis to determine which embryos have inherited the disease and which embryos are free of the disease. These results are then provided to your IVF clinic.

Many IVF centers offer PGD as part of their services. It is best to use a center that has experience with PGD to achieve the best outcome since embryo biopsy is a highly skilled procedure. Of great importance is the level of communication and collaboration between the IVF team and the PGD team. The IVF center may be hundreds of miles from the PGD reference laboratory requiring transportation of the single cells removed from the embryos growing in the incubator at the IVF center. When deciding which reference laboratory to use for PGD, make sure there is constant communication between the IVF team and the PGD team.

For more information on PGD or to pose a question to a Genetic Counselor regarding the use of PGD, please visit www.genesisgenetics.org.

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