Planning to Begin Your IVF Journey? Start with Carrier Screening

Beginning an IVF journey is an important step filled with both excitement and nerves. It is estimated that there have been over 12 million babies born through IVF worldwide¹.

A key aspect of preparing for this journey is undergoing genetic carrier screening before starting any treatment. Carrier screening is a proactive approach that offers vital information about potential genetic risks. This information can empower you to make informed decisions for your future family.

Why is Genetic Carrier Screening Important?

With 1 in 20 individuals identified to be a carrier of one or more of recessive genetic conditions², genetic carrier screening is key in understanding potential genetic risks before pregnancy.

Carriers of a genetic condition do not experience the health conditions themselves. However, if both you and your partner are carriers of the same genetic condition, there’s an increased chance of passing the condition onto your child. Conditions like cystic fibrosis (CF), spinal muscular atrophy (SMA), or fragile X syndrome (FXS) are just a few examples that can be identified with Carrier Screening.

Identifying carrier status at the beginning of your family planning journey allows you to make informed choices and explore options that may reduce the risk of passing on these conditions.

"Preconception Carrier Screening (PCS) and Preimplantation Genetic Testing (PGT represent crucial components of modern infertility management, providing prospective parents with vital information on their reproductive risks and options. PCS helps identify carriers of genetic disorders before pregnancy, enabling informed decision-making."³

Knowing your carrier status empowers you with options, whether through choosing specific IVF procedures, considering alternative paths, or simply feeling reassured by being educated on your own risk.

This knowledge is invaluable for planning a safe and healthy family future.

How Can You Complete Your Carrier Screening?

Carrier screening is a simple, non-invasive test that can be performed using either a cheek swab (like with Lumi Health) or a blood sample, which is sent to a laboratory for analysis.

The test uses NATA-accredited laboratory methods to identify whether you or your partner carry any genes linked to specific genetic conditions. Once the analysis is complete, you'll receive your carrier results that can be shared with you and your healthcare provider.

If the results indicate an increased risk for any genetic conditions, you will consult with a genetic counsellor. The genetic counsellor will help you understand the results, answer your questions, and discuss possible next steps based on your result.

Your healthcare provider can use the carrier screening results to adjust your care plan and guide any necessary follow-up actions.

When Should You Complete Your Carrier Screening?

Timing is important. Ideally, you should complete your carrier screening well before starting the IVF process.

Early screening allows time to fully understand and discuss your options. Knowing your carrier status in advance also allows your fertility specialist to consider alternative approaches if needed, such as preimplantation genetic testing (PGT). This testing option can screen embryos for specific genetic conditions, adding another layer of assurance to your family planning.

Completing carrier screening before embarking on IVF is a thoughtful, proactive approach to informed family planning. By gathering this important information early, you and your partner can make informed decisions every step of the way. 

References

1. ¹ eClinicalMedicine. The current status of IVF: are we putting the needs of the individual first? EClinicalMedicine. 2023 Nov 23;65:102343. doi:10.1016/j.eclinm.2023.102343. PMID: 38106562; PMCID: PMC10725012.
4. ² Archibald, AD, Smith, MJ, Burgess, T, Scarff, KL, Elliott, J, Hunt, CE, Barns-Jenkins C, Holt C, Sandoval K, Kumar VS, Ward L et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: Outcomes of 12,000 tests. Genetics in Medicine. 2018 May;20(5):513-523.
   McClaren BJ, Metcalfe SA, Amor DJ, Aitken M, Massie J. A case for cystic fibrosis carrier testing in the general population. Medical Journal of Australia. 2011 Feb;194(4):208-9.
7. ³ Caroselli, S., Poli, M., Gatta, V., Stuppia, L., & Capalbo, A. (2024). Preconception carrier screening and preimplantation genetic testing
   in the infertility management. Andrology.