Published March 2023
Genetic carrier screening tests for genetic conditions which have little or no impact on your own health but may cause significant health conditions for your children. We are all carriers of at least three to five genetic conditions but may never be aware of it.
Genetic conditions can occur when there are changes in the DNA which causes the genes not to work properly. There are hundreds of inherited genetic conditions that present in infancy or early childhood and most are rare. Genetic conditions affect about 1 in 400 people. The majority of children with these conditions are born into families with no other affected family members.
What is genetic carrier screening?
Reproductive carrier screening tests healthy adults to see if they have an increased chance of having a child with a serious genetic condition before conception or in early pregnancy.
Although reproductive carrier screening can be done at any time, it is best to be tested before falling pregnant. This will give you the opportunity to discuss your reproductive options without a time restriction.
The Royal Australian and New Zealand College of Obstetricians and Gynaecologists recommends that all individuals planning to conceive consider genetic carrier screening. Repromed through Monash IVF now offers an At-Home Genetic Carrier Screening Kit which can be purchased here. This kit is available to anyone, not just people having IVF. You can learn more about this screening test here.
What does it mean if you are a carrier?
If you screen positive as a carrier, this will most often have no impact on your own health because you have another working copy of the gene to make up for the DNA changes. However, being a carrier of an X-linked condition or the same autosomal recessive condition as your reproductive partner means that there is a 1 in 4 chance of having an affected child in each pregnancy (with some exceptions). We will provide detailed genetic counselling for any individual or couple in this situation to outline all the available reproductive options, including prenatal testing and IVF with testing of embryos.
If you receive a high chance result for any of the conditions screened, Repromed’s scientific team can design a test to screen your embryos.
What does the test screen for?
Repromed now offers an At-Home Genetic Carrier screening kit. This simple saliva test screens for up to 410 potential genetic conditions. And the best part – it can all be completed in the comfort of your own home.
The test is available to everyone, you don’t need to be undergoing IVF treatment to access Repromed’s genetic carrier screening. It can all be completed in the comfort of your own home. You can learn more about this screening test here.
Understanding genetic carrier screening with Dr Tristan Hardy
MBBS (Hons 1) MRMed PhD FRANZCOG FRCPA
Medical Director of Genetics for the Monash IVF Group