Preimplantation Genetic Diagnosis (PGD)

PGD is a specialised treatment for couples who carry an inherited genetic defect or chromosomal abnormality that could cause serious health risks for their children. Cells can be removed from each embryo to test whether the embryo is affected by the disease. Couples can then choose to have only unaffected embryos transferred to the uterus. This enables couples to have a healthy child without having to make the difficult decision about whether or not to terminate an affected pregnancy.

Couples undergo a normal IVF cycle. On the third day after egg retrieval, suitable embryos have one or two cells removed for testing. The embryos are cultured in the IVF laboratory while waiting for test results, which are available a day or two later.

Cells are transported to the genetics laboratory, either Monash IVF in Melbourne or the Molecular Pathology laboratory at Christchurch Hospital, where they are tested. 

An increasing number of conditions are able to be tested. These include a variety of single gene disorders such as cystic fibrosis, Huntington's disease, spinal muscular dystrophy, fragile X, beta-thalassemia and myotonic dystrophy, as well as many chromosomal disorders, such as those known as translocations.

For most conditions, patients must undergo a feasibility test to determine if PGD is possible for their particular genetic disorder. This is arranged by staff at Repromed Christchurch.

Guidelines for PGD in NZ have been developed by the Ethics Committee for Reproductive Technology (ECART) http://www.ecart.health.govt.nz/

For more information, contact PGD Co-ordinator, Anne Hill at the clinic (ph 03 3412 745)