Genetic abnormalities contribute to a significant number of pregnancy losses and can also cause health problems in the children who make it to a live birth. You have the choice of accessing advanced genetic testing for the embryos created through IVF, enabling only the embryos who pass the screening to be selected for implantation.
PGT involves extracting a few cells from the outer layer of the embryo (which would later develop into the placenta). This tissue sample is sent to our purpose-built laboratory for assessment with a technician experienced in genetic analysis.
There are three types of PGT, which are relevant for different situations.
Aneuploidy refers to an abnormal number of chromosomes. When an egg and sperm combine their genetic material, we expect a standard 23 pairs of chromosomes to result, but this is not always the case. Aneuploidy can result in failed implantation, pregnancy loss, and children with genetic conditions such as Down syndrome.
We may recommend PGT-A if you:
Monogenic conditions are those caused by a mutation in a single gene. If you or your partner know you have an increased chance of such a condition, we will suggest PGT-M. Examples of monogenic conditions include cystic fibrosis and sickle cell anaemia.
We may recommend PGT-M if you or your partner:
Structural rearrangements refer to having the right number of chromosomes but in a different arrangement. Having a balanced chromosomal rearrangement doesn't cause any health issues to yourself, but it does increase the risk of passing on an abnormal number of chromosomes to your child through your egg or sperm, potentially causing pregnancy complications or a genetic disorder in your child.
PGT-SR is recommended for couples who have a known chromosomal rearrangement in either partner.
Note that it is not possible to exclude absolutely every possible genetic abnormality through PGT but it will help significantly in minimising your risks of a pregnancy and baby affected by a genetic condition.
There is always a small risk of damage to the embryos through the biopsy process. However, this is very rare.
Typically, results from a biopsy take 3 weeks to return and are often back in time to transfer an embryo with your next period should you have a genetically normal embryo.
We need embryos to be hatching to be biopsied and we need to be able to access 5-10 cells of the placenta to safely biopsy. Some embryos will not reach the hatching stage; equally, we may not have access to placental cells, in which case it is not safe to biopsy the embryos.
Dr Danielle Robson, fertility specialist, consults at three locations across Sydney: the CBD, Chatswood, and Manly. A referral from a general practitioner is required for all initial appointments.
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