Genetic Carrier Screening

Using a sample of saliva or a simple blood test, we can screen for hundreds of genetic conditions and identify whether you, your partner or a donor are a carrier. This informs how likely it is that your baby would be born with those genetic conditions, and what next steps we take in your fertility journey.

Genetic Carrier Screening Melbourne

Would you benefit from carrier screening?

A carrier screening test can be used to help you understand your personal health and whether you are a carrier for any genetic conditions. This information can be really important to consider when you’re starting to plan your family, as much of your genetic information will be passed on to your children. Our carrier testing can assess for several hundred genetic conditions, including fragile X syndrome, cystic fibrosis, or spinal muscular atrophy (SMA).

Anyone who is planning on having a child should consider undergoing a carrier screening test. In particular, you would likely benefit from a carrier test if you:

  • have a family history of one or more genetic disorders;
  • have have been unable to get pregnant through months of trying; or
  • have experienced recurrent miscarriage.
 

A genetic carrier screening test may be able to help you avoid having a baby that is born with a serious medical condition that could severely impact on their health. 

If you are a known genetic carrier of any condition, please let us know and we can assess whether additional genetic testing may be beneficial. It is worthwhile to consider undergoing the initial carrier screening test to see if you are a carrier for any other conditions. Understanding your health and personal circumstances is important so that we can always put you first.

The genetic carrier test process

We recommend completing genetic screening before pregnancy and conception; this helps us make the best recommendations for your fertility journey and gives you more time to make decisions. However, it is still possible to test in the first trimester or later of pregnancy.

The genetic carrier test is a relatively simple and non-invasive procedure. There are two ways to obtain a sample. Firstly, using a sterile swab, a sample of saliva is taken directly from both sides of your mouth and then combined with a special solution. The second method is to use a simple blood test sample. Our team will then assess the sample and report any notable results to you, typically around 3 to 6 weeks after you provide the sample. Our specialists will help you understand the results of your carrier test and recommend appropriate fertility pathways

Our comprehensive carrier screening, while widely effective, is unfortunately unable to screen for every possible genetic condition. Some rare genetic variants may not be analysed by the test. However, all variants that indicate an increased risk of disease for you or your baby will be reported and our specialists will help take you through them.

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Results

Once you have your results, our specialists can help you make sense of them and what your path forward looks like. If you are found to be a carrier for a particular genetic condition, we will test your partner as well to see if they are also a carrier. If both partners are a carrier, there are several options available to help ensure your baby is as healthy as possible. In particular, you may choose to undergo IVF and have your embryos tested before any are implanted in your uterus, so that only healthy embryos are chosen.

It is not uncommon that your results indicate you are a carrier for at least one single gene condition — almost everyone is when enough genes are tested. However, it is uncommon for you and your partner to both carry the same abnormal gene, making it unlikely that you would have an affected baby. Detailed genetic counselling is available for anyone who carries an abnormal gene to explain the risks of an affected baby, including testing and available treatment options.

Alternative treatments

We take great care to assess as many different factors that affect fertility as possible. With different genetic screening and tests, fertility assessments and even general health checks, our team looks at every aspect to find your best path to pregnancy.

PGT-M is used to check whether there are any specific mutations in an embryo’s genetics, typically when there is a known genetic condition that runs in the family of one or both parents. We can check whether that condition appears present in the embryo prior to implantation.

Chromosomes carry all of an embryos’ genes, and aneuploidies are abnormalities in a cell’s number of chromosomes which can lead to negative pregnancy outcomes. PGT-A testing ensures that only embryos carrying the correct chromosomal number are transferred to the uterus during fertility treatment.

To best understand your current fertility situation, we take a complete medical history from each patient, before getting a sense of your lifestyle, general health and how long you have been trying. We can assess your fertility health and help create the right program for you.

Using a simple blood test, we can measure your level of anti-mullerian hormone (AMH), which tells us how many eggs you still have in your ovaries, known as your ‘ovarian reserve’. This helps us understand your level of fertility health relative to the average for your age.

When you are ready, we are here for you

If you’re interested in any aspect relating to fertility, contact the helpful team at Create Fertility today.

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