What is PGD with Karyomapping?
Pre-implantation genetic diagnosis with Karyomapping is a highly sophisticated scientific technique that can test embryos for the presence of a single gene disorder.
This allows only embryos that are NOT affected by a specific disorder to be selected for embryo transfer during an IVF cycle, preventing the condition from being passed on to any future children.
Who is Karyomapping suitable for?
Karyomapping is suitable for patients who are at an increased risk of having a child with an inherited genetic condition.
Karyomapping can test for a large number of single gene disorders including Huntingtons’ disease, Cystic fibrosis, Thalassaemia, Duchenne muscular dystrophy, Fragile-X and BRCA1/BRCA2 (hereditary breast/ovarian cancer).
Single gene PGD is only possible where the exact gene mutation, causing the problem, has been identified.
There are some disorders where, although it is apparent from the family history that is cause is genetic, the exact gene is simply not known.
In this case, single gene PGD cannot help. Most couples with a single gene disorder will be able to have PGD with Karyomapping.
How does Karyomapping work?
We will do an early assessment to determine if Karyomapping is suitable for you. This involves an appointment with our genetics team, including our clinical geneticist and laboratory team.
The length of time taken for the assessment phase will depend on how much genetic information is already available. It is very important to bring as much information as you have to these visits including any test results and family history.
DNA samples are collected, usually via a simple blood or saliva test, from the couple as well as other family members.
Preliminary testing of these samples allows a unique DNA fingerprint of the faulty gene to be determined.
Analysis of the DNA samples will take 2 – 4 weeks and will establish whether Karyomapping is appropriate.
Then, as part of an IVF cycle, embryos are created and a few cells are removed from each embryo for analysis.
All embryos that are suitable will be frozen for later transfer to the woman.
By comparing the DNA fingerprint of the embryos biopsied to the DNA fingerprint of the family members we are able to determine with 98% accuracy, which embryos have inherited the disease and which are free of the disorder.
The results of the genetic testing will be available within 10 days of the biopsy being performed.
If there is a genetically normal embryo available this will be transferred back into the female’s uterus with a chance that it will produce a successful pregnancy and a healthy baby.
PGD process to test for genetic disorders
What if Karyomapping is not suitable for me?
Patients who are not suitable for Karyomapping, will still be able to undergo PGD for their single gene disorder, but they will have to use the traditional PCR methodology.
The PCR methodology requires the development of individual gene sequences that can be matched with the exact mutation that the parents are carrying.
The preparation of these individual gene sequences requires a further three to six months as well as additional costs.
If you have already paid for the Karyomapping assessment, this cost will be discounted from the total cost of your PCR gene sequence preparation.
Today most couples with a known hereditary condition can use the faster karyomapping technique.
How much does PGD with Karyomapping cost?
An IVF cycle with PGD has three components of cost:
- The cost of the IVF cycle
- The cost of the hospital stay
- The cost of the PGD technology
At IVFAustralia the cost of PGD with Karyomapping for single gene disorders is $1640 for the preliminary evaluation plus $700 per embryo biopsied with a maximum fee of $2640 for 6 or more embryos from a single IVF cycle.
There is no Medicare rebate associated with PGD. However, your final costs may vary depending on your individual circumstances.
If you have any questions about the cost of preimplantation genetic diagnosis with IVF Australia please phone 1800 111 483 or email us.
Read more about the cost of IVF >
Want more information about Karyomapping?
If you know or suspect that you have an inherited single gene disorder that you do not wish to pass on to your children please book an appointment with a fertility specialist or call 1800 111 483.
Appointments are available within the next couple of weeks and will cost approximately $150 for a couple after the Medicare rebate.