Pre-implantation genetic diagnosis

Parents with a family history of a serious or fatal genetic condition now have the option of combining IVF and genetic testing, in a technique known as pre-implantation genetic diagnosis (PGD).

Couples using PGD first need to use IVF procedures to generate embryos. A single cell can then be removed from the very early embryo without damaging it. This cell can be tested to see if it carries the genetic defect that causes the condition. Only embryos that do not carry the defective gene are implanted in the mother.

While there has only been limited use of PGD so far, the potential applications of PGD are increasing rapidly, as researchers identify more of the genes associated with serious genetic conditions.

As with all IVF procedures, a successful pregnancy is not guaranteed. However, for many couples who have experienced a serious genetic condition or lost family members, PGD is more acceptable than using prenatal genetic testing on a growing baby, or not having children at all.

Genetic testing in any context raises many significant issues for our community, but particularly when embryos are involved. In general, PGD is usually only permitted for serious or life-threatening conditions, and if it improves the welfare and the interests of the child being born.

Some families have tested embryos using PGD 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.

Regulations regarding this use of PGD testing vary from country to country. In Australia, some states have PGD regulations, and others do not.

Saviour sibling

In March 2004, the first 'saviour sibling' to be born in Australia was reported.

A couple from Tasmania used PGD with tissue typing to have a second child who would be free from a particular genetic condition (Hyper IgM syndrome). The child would also be a matched tissue donor for the couple's existing child, who is affected by the same condition.

As a result of the treatment, carried out at Sydney IVF, the woman started her pregnancy knowing that her baby will be free from Hyper IgM and a potential tissue donor for her existing son.

More information on PGD can be found at: http://www.sivf.com.au

Information on policies and regulations regarding PGD can be found at: http://www.ita.org.au/www/257/1001127/displayarticle/1001386.html

http://www.dh.sa.gov.au/reproductive- technology/functions.asp

The Reproductive Technology Accreditation Committee (RTAC), established by the Fertility Society of Australia in 1987, has developed a set of guidelines to promote a series of standards and as a guide to the Code of Practice of IVF and related technologies in Australia. These can be found at http://www.fsa.au.com/pdfs/RTAC-guidelines-2002.pdf

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What is biotechnology? Human uses Fighting infectious diseases Antibiotics Producing human products Reproductive technologies IVF Pre-implantation genetic diagnosis The human genome project Genetic disorders Gene therapy Cloning Stem cells Transplantation DNA profiling Regulation of research in Australia Ethics of research involving humans Environment Food and agriculture Careers	Pre-implantation genetic diagnosis Parents with a family history of a serious or fatal genetic condition now have the option of combining IVF and genetic testing, in a technique known as pre-implantation genetic diagnosis (PGD). Couples using PGD first need to use IVF procedures to generate embryos. A single cell can then be removed from the very early embryo without damaging it. This cell can be tested to see if it carries the genetic defect that causes the condition. Only embryos that do not carry the defective gene are implanted in the mother. While there has only been limited use of PGD so far, the potential applications of PGD are increasing rapidly, as researchers identify more of the genes associated with serious genetic conditions. As with all IVF procedures, a successful pregnancy is not guaranteed. However, for many couples who have experienced a serious genetic condition or lost family members, PGD is more acceptable than using prenatal genetic testing on a growing baby, or not having children at all. Genetic testing in any context raises many significant issues for our community, but particularly when embryos are involved. In general, PGD is usually only permitted for serious or life-threatening conditions, and if it improves the welfare and the interests of the child being born. Some families have tested embryos using PGD 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. Regulations regarding this use of PGD testing vary from country to country. In Australia, some states have PGD regulations, and others do not. Saviour sibling In March 2004, the first 'saviour sibling' to be born in Australia was reported. A couple from Tasmania used PGD with tissue typing to have a second child who would be free from a particular genetic condition (Hyper IgM syndrome). The child would also be a matched tissue donor for the couple's existing child, who is affected by the same condition. As a result of the treatment, carried out at Sydney IVF, the woman started her pregnancy knowing that her baby will be free from Hyper IgM and a potential tissue donor for her existing son. More information on PGD can be found at: http://www.sivf.com.au Information on policies and regulations regarding PGD can be found at: http://www.ita.org.au/www/257/1001127/displayarticle/1001386.html http://www.dh.sa.gov.au/reproductive- technology/functions.asp The Reproductive Technology Accreditation Committee (RTAC), established by the Fertility Society of Australia in 1987, has developed a set of guidelines to promote a series of standards and as a guide to the Code of Practice of IVF and related technologies in Australia. These can be found at http://www.fsa.au.com/pdfs/RTAC-guidelines-2002.pdf
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Pre-implantation genetic diagnosis