Genetic testing is a type of medical test that identifies changes in genes and chromosomes. Our genes and chromosomes are like the words and pages in an instruction manual- only this one doesn’t make IKEA furniture- it makes us. If there’s a typo in these instructions, then this can affect the assembly (or our development). Genetic testing allows us to scan our genome to see if we have mistakes. We can also see if our genome, combined with our partners, could lead to genetic effects. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine your chance of passing on a genetic disorder to your future children.
There are different times that we can test: pre-pregnancy (preconception) or during pregnancy (prenatal).
Pre-pregnancy genetic testing (also known as preconception carrier screening) is done before attempting to get pregnant to evaluate the possible genetic risks you or your partner may carry.
1 in 3 people are carriers of a genetic disease. Being a carrier means you don’t necessarily have any symptoms, possibly neither do your parents but if your partner is also a carrier your future child may be at risk.
How does this work?
For each gene in your body, you have two instructions, one from your mum and one from your dad. Every now and then, an error occurs, called a mutation. They can be hereditary, meaning that they can be passed from parents to children, or spontaneous (no family history). In a scenario where both the mum and the dad have an error in the same gene, the body would lack instructions on how to make something in the body (this depends on the gene in question) and their child could be affected.
More than 80% of children born with a genetic disorder are born to a family with no prior family history of that disorder. Many of us are carriers, in fact, 1 in 3 of us carry a mutation that, combined with our partner, could lead to an illness in our future child.
The sad and shocking statistics about genetic illness are very real. This is why as many as 1 in 8 pregnancies end in miscarriage and even though there is not much we can do about the general rate of miscarriage- if you have experienced more than three miscarriages, it is advisable to do a genetic test. Recurrent miscarriage affects 1 in 100 women. Testing the miscarriage tissue can give you insights into your miscarriage, whether it was genetic, or otherwise. While most women who have 1 or 2 miscarriages will go on to have successful pregnancies, waiting to be granted testing rights is a cruel fate, and for many women, one is enough. That’s your choice.
If you need answers about your genetic health, whether planning to conceive, wanting an insight into your pregnancy or if you have suffered a pregnancy loss, Hertility can help. We have tests and genetic counsellors who will guide you through this process.