Planning to start a family is an exciting time filled with many decisions and things to consider. In the midst of that busyness, reproductive carrier screening might not feel like the top priority, but it is still an important step we encourage couples to take.
What is genetic carrier screening?
Carrier screening is a form of genetic testing used during preconception to determine whether someone carries a gene for a variety of different genetic disorders. Using either a sample of blood or saliva, we can identify whether a patient carries the gene for hundreds of different genetic conditions, including cystic fibrosis, spinal muscular atrophy, or Fragile X syndrome. This information is important because it helps prospective parents understand how likely they might be to have a baby born with a genetic condition, giving them more information during their family planning.
Why patients should consider getting screened
There are a variety of advantages of genetic screening. Every parent’s genetic information is passed on to their children, and understanding it can reduce uncertainty and help couples make more informed decisions about their reproductive options. Depending on the type of information that carrier screening reveals, couples may opt for treatments like IVF with further genetic testing on embryos, adoption, or even using donors.
Additionally, parents with information on their genetics are better able to prepare for a child that may be born with a condition. This gives them more time to consult with a fertility specialist or genetic counsellor and get all the information they need. Receiving prompt care for any conditions they may have as soon as they are born can better set children up for a healthy life.
Who should get a carrier screening test?
Essentially, any individual or couple that is planning to start a family would benefit from screening. The information provided is helpful as part of the planning process, and when preparing for a baby to arrive once pregnant. On top of this, there are some people we strongly recommend undergo carrier screening tests, including people with a family history of genetic disorders, and those currently undergoing fertility treatment.
Screening process
The preconception carrier screening process is quite straightforward and quick, with two methods of collecting a sample. We can either use a swab to collect some saliva, or use a simple blood test. Our team then assesses your sample, letting you know your results a couple of weeks later. Once you have your results, we will help you understand everything and discuss all of your options going forward. Patients are encouraged to be screened before falling pregnant, but genetic screening tests can be completed through the first trimester of pregnancy as well.
Unfortunately, the reproductive genetic carrier screening cannot test for every possible condition, with some genetic variants unable to be analysed by the test. However, these variants are incredibly rare, and we will report on every indication of increased risk.
What if I find out that I’m a carrier?
It’s surprising for a lot of people to find out, but most individuals are a carrier for one or a few genetic conditions! In most cases, this doesn’t have an effect on your health, and is unlikely to be passed to your baby unless both parents carry the same abnormal gene. When you get your results, we encourage you to go through genetic counselling to learn more about the risks, testing options, and potential treatments.
If both partners find out they are a carrier, we are with you to help you decide on the best path forwards. Couples may opt for IVF treatment, where they can have their embryos tested for the presence of a genetic condition before they are implanted in the uterus.
Helping you make sense of it all
Your fertility journey can be a complex enough time, especially when you begin thinking about genetics. Our team is here to help you through all of it, explaining information clearly and with compassion, and ensuring you know all your options. We’re committed to helping you find the best path forwards, and giving you the best chance of growing your family.
Get in touch to learn more about our comprehensive carrier screening and other fertility treatment options.
