At Queensland Fertility Group we work with patients at risk from a variety of inherited conditions, such as birth defects and genetic disorders. We also provide counsellors, who can help you with advice and information about these risks, and support any decisions you make. We may recommend genetic testing as part of the process.
Pre-implantation Genetic Diagnosis (PGD)
This is a highly sophisticated scientific technique to test embryos for specific genetic or chromosomal abnormalities. It helps select embryos unaffected by abnormalities for implantation and pregnancy.
We offer an internationally recognised PGD program that has helped hundreds of couples conceive healthy babies – many after long periods of infertility or with serious genetic diseases in the family.
You may wish to consider PGD if you are concerned about any of the following:
- having a child with an inherited genetic condition
- a known family history of chromosome rearrangement, in either partner
- previous chromosomal abnormality in pregnancy
- advanced maternal age (we usually test for Down syndrome if the mother is 38 or over)
- recurrent miscarriage
- repeated unsuccessful embryo transfers
- terminating a pregnancy affected by chromosomal abnormality.
How does PGD work?
One or two cells are removed from a day-3 embryo and tested for a specific condition, such as cystic fibrosis or down syndrome. Only unaffected embryos, or those free of a specific disorder are transferred in the IVF cycle, which increases the chance of a healthy baby significantly.
We can test for a large number of single-gene disorders, including:
- Huntington's Disease
- Cystic Fibrosis
- Duchenne muscular dystrophy
- BRCA1/BRCA2 (hereditary breast/ovarian cancer)
Translocation happens when parts of one chromosome are broken off and rearranged onto other chromosomes. At Queensland Fertility Group, we can test for ‘unbalanced translocation’, where part of a chromosome is missing as a result of translocation. To do this, we use a technique known as FISH (Fluorescent In-Situ Hybridisation Testing).
By identifying and removing embryos with unbalanced translocations, we can help you avoid miscarriages, or children born with severe abnormalities.
If you or your partner have a serious inherited genetic disease, or would like to consider PGD for any other reason, your specialist can refer you to our PGD team.