Top 5 things you need to know about genetic carrier screening


21 April 2022

If you are planning to have a baby one day, we suggest you consider genetic carrier screening. If you don’t know too much about genetic carrier screening – here are the top five things you need to know to help you decide if it is right for you.

What is genetic carrier screening?

Genetic carrier screening assesses your chance of having a child with a single gene condition. Examples of single gene conditions include cystic fibrosis, Fragile X syndrome and spinal muscular atrophy. We’re all carriers of changes in our genetic code which do not have any impact on us, so we may never be aware of this. Genetic carrier screening identifies the single gene conditions that you carry, and helps you understand the chance that you could pass a genetic condition onto your child. The Royal Australian and New Zealand College of Obstetricians and Gynaecologists recommends that anyone who is planning a pregnancy or is in the early stages of pregnancy considers genetic carrier screening.

When can you get genetic carrier screening done?

Genetic carrier screening can be done at any time, including during pregnancy. However, it’s recommended that you undergo genetic carrier screening before you are pregnant. This gives you the opportunity to discuss your reproductive options, including IVF with testing of embryos.

You can get genetic carrier screening done as a couple, or as a single person. If you get genetic carrier screening done as a single person, it is recommended that any of your future reproductive partners (including donors) also undergo genetic carrier screening. A genetics expert can compare you and your reproductive partner’s genetic carrier screening reports and assess your chance of having a child with a single gene condition. If you do have a reproductive partner, both partners will need to undergo genetic carrier screening. When you purchase two genetic carrier screening kits from Monash IVF, you receive a discount.

What does genetic carrier screening test for?

Expanded genetic carrier screening tests to see if you’re a carrier of one of the 410 most common single gene conditions, including Fragile x syndrome, cystic fibrosis and spinal muscular atrophy.

Many people ask why it is a good idea to screen beyond the most common three genes listed above. Although screening for these genes can rule out the most common conditions which are seen in our population, there are many people who will screen positive for a condition which is not in the top three. Most children born with a single gene condition are born into families with no other affected family members. This means that even if you don’t know of anyone in your family who was born with a single gene condition, it doesn’t mean that you’re not a carrier of a genetic condition.

Why is genetic carrier screening important?

One in 30 reproductive couples that complete genetic carrier screening will find out that they have an increased risk of having a child with a single gene condition. Understanding these risks allows you to make an informed decision about your reproductive options. If you do find out that you have an increased chance of having a child with a genetic condition, you might choose to accept the chance of having a child with a genetic condition and test after birth if necessary. You may also choose to have prenatal testing in pregnancy, or preimplantation genetic testing of embryos made in an IVF cycle. There are lots of other options to consider in your journey to parenthood, and genetic counselling is available to support you as you navigate your options.

Where can you get genetic carrier screening done?

Monash IVF now offers a t-home genetic carrier screening, making genetic carrier screening more accessible than ever.

You can purchase a Monash IVF Genetic Carrier Screening Kit online here. Then we’ll send you a kit in the mail, or you can pick up a kit from one of our ultrasound or IVF clinics. All you need to do is provide a saliva sample, then mail it back to us with the reply-paid envelope. You will receive your results after about four-six weeks from one of our Genetics Team Members.

If your results indicate that you may have a chance of having a child with a single gene condition, one of our Genetic Counsellors will explain what it means and talk you through your options. They may also put you in contact with one of our fertility specialists who can provide you with expert help on your fertility journey.

You can learn more about genetic carrier screening here.

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