Genetics can be complex and challenging to understand. Genetic testing should be selected with a good understanding of the benefits, risks and limitations. At ARGC, we offer the most up-to-date advice for genetic testing to reduce the risk of inherited conditions and improve treatment outcomes. Please contact the clinic for further information should you have further questions or wish to discuss genetic testing.
Karyotype analysis is the study of chromosomes, the tiny structures found in each cell on which the genes are located. A karyotype examines the chromosomes to check if there are any changes in total numbers or structure. Karyotype testing can provide useful information in determining a cause of infertility and help towards appropriate treatment planning.
During PGT, a small number of cells are removed from the embryo and the embryo is frozen. The DNA of these cells is then tested to identify embryos suitable for transfer in a frozen embryo transfer cycle.
PGT-A (also known as pre-genetic testing for aneuploidy) involves checking the number of chromosomes in the cells from suitable embryos. If an egg- or sperm-provider has a chromosome re-arrangement then the test is called PGT-SR. Embryos with an imbalance of chromosome material can lead to a failed cycle, a miscarriage, or birth of a child with health and developmental difficulties.
PGT-M is a type of embryo genetic testing that can be used by people with serious inherited conditions in their family so that embryos without the genetic condition selected for transfer. This test can includes PGT-A screening.
Genetic counselling may be recommended for you so you can give informed consent for a test or to discuss a genetic finding to understand what it means for you and your treatment plan.
Carrier screening tests identify whether you and your partner carry genes that can cause genetic diseases.
Carrier screening tests for recessive genetic conditions such as cystic fibrosis or thalassaemia. If an egg and sperm-provider are carriers for the same condition, although not affected by the conditions themselves, there is a 25% chance that the embryo may inherit carrier genes from both the sperm and egg, resulting in the condition. This test looks at whether or not the egg or sperm provider have the gene so that the embryos can be tested by PGT-M if required.
Many donor egg and sperm banks now provide extended carrier screening results for their donors. Most people are carriers for one or more genetic diseases. You may wish to have carrier screening for yourself to check that you do not carry the same genetic condition as a selected donor. You will need to have genetic counselling to have a further understanding of the possible results before you do these tests.
You can find answers to common questions below. Remember, our team is always here to help if you have any further questions.
The risks of PGT include potential damage to the embryo during the biopsy process and the possibility of false positive or false negative results. However, experienced embryologists and geneticists work to minimise these risks.
