What is pre-implantation genetic testing (PGT)?

Pre-implantation Genetic Testing (PGT) is a sophisticated scientific technique which can be used to test embryos for either a specific known genetic condition or chromosome abnormality.

This enables only chromosomally normal embryos or those unaffected by a specific disorder to be selected for transfer during an IVF cycle, maximising the chance of a healthy baby.

Up to 70% of embryos created, either via natural conception or IVF dont survive the first 3 months of pregnancy and many dont achieve implantation because of those two reasons.

IVFAustralia offers an internationally recognised pre-implantation genetics program, managed by Australias leading pre-implantation genetics laboratory Virtus Diagnostics.

You may wish to consider pre-implantation genetic testing if you are concerned about any of the following issues:

In pre-implantation genetic testing, the woman goes through a standard IVF cycle. While the embryos are developing in the IVF laboratory, a few cells are removed from each embryo and tested in one of two ways.

The technique of Next Generation Sequencing tests all 24 chromosomes in an embryo to enable the selection and transfer of only chromosomally healthy embryos.

Read more about PGT with Next Generation Sequencing >

Karyomapping is used if you or your partner are known to be carriers of a serious single gene disorder.

Karyomapping can identify which embryos are NOT affected by the disorder preventing the condition from being passed on to the next generation.

Read more about PGT with Karyomapping >

Our genetic material, or DNA, is tightly coiled into structures called chromosomes. Every cell in an embryo should have 46 chromosomes, arranged in 23 pairs.An extra or missing chromosome means the embryo is abnormal. This is called aneuploidy and includes conditions such as Down syndrome, where there is an extra chromosome number 21.

These chromosome abnormalities or aneuploidies can affect up to 70% of early human embryos, and most cause the embryo to stopping developing resulting in failure to become pregnant or miscarriage.

We are able to test for a wide range of single gene disorders, including:

A chromosomal translocation is a condition where a piece, or pieces, of one chromosome are attached to a different chromosome.

Up to 2% of people with reproductive problems are found to have a balanced translocation.

A balanced translocation is where there is a chromosomal rearrangement but overall there is the correct amount of genetic material present so that the person himself or herself is completely healthy.

However, in this situation, some of their eggs or sperm will end up with the wrong amount of genetic material, leading to the embryo having an unbalanced translocation. i.e the embryo has the wrong amount of genetic material.

Embryos with an unbalanced translocation, usually miscarry, or are born with severe abnormalities.

If either partner carries a balanced translocation, we can use PGT with Next Generation Sequencing to test each embryo for the presence of an unbalanced translocation.

This enables the selection and transfer of only chromosomally normal embryos, maximising the chance of a successful pregnancy and a healthy baby.

Some genetic conditions affect one gender, for example haemophilia and muscular dystrophy. When it is not possible to detect the exact genetic error that causes the disease, PGT can be used to determine the gender of embryos, so only embryos of the required gender and with the correct number of chromosomes will be transferred.

Gender selection is prohibited for family balancing and can only be used for medical reasons.

Not as far as we know. Current research shows that the likelihood of a biopsied embryo implanting is exactly the same as a non-biopsied embryo. Despite the removal of a few cells from the embryo, there have been no reports of any health problems as a result of embryo biopsy in children conceived after PGT.

An IVF cycle with PGT has three components of cost:

PGT with Karyomapping for single gene disorders costs $1,640 for the preliminary evaluation plus $700 per embryo biopsied with a maximum cost of $2460 for 6 or more embryos from a single IVF cycle.

PGT with Next Generation Sequencingcosts $700 per embryo biopsied with a maximum cost of $3995 for up to 10 embryos.

There is no Medicare rebate associated with PGT. However your final costs may vary depending on your individual circumstances.

If you have any questions about the cost of pre-implantation genetic testing with IVF Australia please phone 18000 111 483 or email us.

Read more about the cost of IVF >

Pre-implantation genetic testing (previously referred amongst the community as PGD or pre-implantation genetic diagnosis) has helped many couples conceive healthy babies, many after long periods of infertility or with serious genetic diseases in the family.

We have a genetic team dedicated to helping patients who are at risk of inherited conditions and can provide you with information about these risks, and support you with any decisions you make.

If you know or suspect you have a genetic or chromosomal abnormality please come to a free fertility seminar or book an appointment with a fertility specialist.

Appointments are available within the next couple of weeks and will cost approximately $150 for a couple after the Medicare rebate.

Find out more about the costs of Pre-implantation Genetic Testing...Learn about Next Generation Sequencing...Find out more about Karyomapping...Find out more about Non-Invasive Prenatal Testing...Contact us for more information on PGT...

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Pre-implantation Genetic Testing | IVF Australia

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