At Queensland Fertility Group we have extensive experience working with patients at risk from a variety of inherited conditions, such as birth defects and genetic disorders. We offer a wide range of advanced genetic testing to give you the best possible chance of having a healthy baby. We also provide counsellors, who can help you with advice and information about the risks, and support any decisions you make.
What are chromosomal abnormalities?
A human cell contains genetic material arranged in dense strands, called chromosomes. A normal cell will contain 23 pairs of chromosomes. Fertilisation combines 22 chromosomes and an X chromosome from the mother’s egg with 22 chromosomes and either an X or Y chromosome from the father’s sperm. An embryo then has 46 chromosomes – if it’s a female, with two X chromosomes, and if it’s a male, with an X and a Y chromosome. A gene is a sequence of DNA (genetic material) on a chromosome with a particular function.
There are a number of different types of chromosomal abnormalities. In some cases, a child may be born with a chromosome missing from a pair (monosomy), or an additional chromosome (trisomy). In other cases, a portion of a chromosome may be missing, duplicated or translocated – where a section of one chromosome breaks off and attaches to another.
Up to 70% of embryos, whether conceived naturally or through IVF, are lost before birth. This usually occurs within the first three months of pregnancy, most often before implantation. Women over 38 years of age are at greatest risk of conceiving a baby with a chromosomal abnormality.
We can now test for over 60 specific genetic disorders, including Huntington’s Disease, Cystic Fibrosis and Thalassaemia, using Preimplantation Genetic Diagnosis (PGD). This can help couples at risk of transferring a genetic disease to have a healthy baby.
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.
We also offer a breakthrough approach to testing for chromosomal abnormalities during IVF treatment, Advanced Embryo Selection. This allows us to test an embryo before transfer, to ensure we use the embryo with the best chance of success.
How does PGD work?
One or two cells are removed from a day 3-6 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)
Karyomapping for PGD of Monogenic Disorders
Preimplantation Genetic Diagnosis (PGD) is a treatment option for couples who know that one or both of them is a carrier of a monogenic disorder. PGD allows these couples to reduce the chance of passing that disorder on to their offspring.
Queensland Fertility Group has long offered PGD for monogenic disorders and has now introduced karyomapping which will complement the traditional multiplex PCR methodology for patients requiring PGD for monogenic disorders.
Whilst multiplex PCR remains an accurate and effective methodology, there are significant advantages when using karyomapping, in particular no disease-specific or patient-specific workup (feasibility) is required which significantly reduces the time required before an IVF treatment can commence.
How does Karyomapping work?
In line with multiplex PCR methodology, the exact gene involved must be known in order to perform karyomapping. By combining this information with DNA samples from the couple, and from family members of known genetic status, it can be determined whether a DNA fingerprint of the region of the DNA from the parent that carries the mutation for the genetic disorder matches the DNA fingerprint of cells removed from the embryo.
If the section of DNA from the parent that carries the mutation isn’t seen in the embryo, then it is likely that the mutation responsible for the disorder is absent and that the embryo is not affected.
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.
Advanced Embryo Selection (AES)
This breakthrough technology screens all the chromosomes in a developing embryo, so we can choose the one that offers the greatest likelihood of pregnancy success.
Because it gives us definitive results within 36 hours, your IVF cycle can continue uninterrupted, with a fresh embryo transfer. It is indicated if you:
- are over 38
- have a history of miscarriage
- have experienced repeated unsuccessful IVF
- have hereditary chromosomal conditions
This is the world’s fastest and most precise embryo selection test. A research team within our Group led the development of Comparative Genomic Hybridisation (CGH), which forms the basis of this testing technique. It uses the robust 24Sure™ test, based on the technology behind more than 250,000 clinical genetic tests around the world.
How much does PGD cost?
The below pricing is subject to change, and you should always discuss current pricing with your Fertility Specialist and QFG at the time of your treatment.
Advanced Embryo Selection
(also referred to as Array PGD, Aneuploidy PGD, Embryo Screening)
- Array CGH PGD with blastocyst (Day 5 and 6) stage biopsy and Freeze All* of all embryos post biopsy: $700/embryo up to a maximum of $3995
- Translocation Array PGD with blastocyst (Day 5 and 6) stage biopsy and Freeze All* of all embryos post biopsy: $700/embryo up to a max of $3995
(also referred to as Single Gene PGD, Monogenic PGD)
- Workup $1640
- Karyomapping PGD with blastocyst stage biopsy and Freeze All* of all embryos post biopsy: $700/embryo up to a maximum of $2460
Alternative monogenic PGD approaches are available in cases where Karyomapping is not appropriate for patients. Additional information, pricing and associated timelines are available from your Fertility Specialist and QFG
*QFG is also able to offer Day 3 embryo biopsy which provides the option of a fresh embryo transfer for array PGD cases, if that is a preferred option. Additional costs are associated with the priority turnaround of results and are available from QFG reception.
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.
To find out more about advanced genetic testing offered at Queensland Fertility Group, call us on 1800 111 483 or send an email enquiry.