Preimplantation genetic diagnosis (PGD) is a technique which involves the genetic testing of embryos created through IVF for deleterious, heritable genetic conditions which are known to be present in the family of those seeking treatment and from which the embryos are known to be at risk
PGD was developed to allow couples at risk of passing on a serious genetic disease to have children not affected by it. Since its introduction, it has been most widely used to prevent the birth of children with conditions such as Down's syndrome, Tay-Sachs disease, cystic fibrosis, sickle cell, Huntington's chorea, and Cooley's anemia.
When is PGD used?
Most commonly, PGD is used where a couple is aware of the possibility that their offspring will inherit a genetic disease. Even though they may not have a problem with infertility, they choose to undergo a stimulated IVF Cycle with the aim of producing a number of embryos.
Now, the major application of PGD is in the field of assisted reproduction for aneuploidy screening and diagnosis of unbalanced inheritance of chromosome abnormalities (translocations). The most common type of PGD today involves testing of embryos for a panel of the most common chromosome abnormalities (aneuploidy screening) and using only normal embryos to attempt a pregnancy. Each IVF cycle, therefore, has a better potential outcome, since embryos screened in this way have been shown to have a higher rate of implantation in the uterus, lower spontaneous loss rate, and a reduced risk of trisomic offspring (i.e. Down syndrome).
Some families have used PGD to test their embryos to ensure they can provide a bone marrow transplant for a sick sibling. The bone marrow cells for the sick sibling are taken from the umbilical cord blood of the new baby. Using this process of tissue typing, these babies are sometimes called 'saviour siblings' as they can literally save their sick brother or sister's life.
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