percept NIPT for translocation carriers
Finding accurate information about prenatal screening options can be difficult for people who carry balanced translocations. Carriers are often told that an invasive procedure is the only way to find out whether their pregnancy carries a translocation or other chromosome condition.
However, percept NIPT can provide an alternative.
What is a translocation?
A translocation is a structural change affecting our chromosomes. Chromosomes are the structures that carry the DNA we inherit from our parents.
Sometimes, chromosomes can exchange pieces of DNA. DNA from one chromosome may break off and attach to a different chromosome. This is called a reciprocal translocation.
Because there is no loss or gain of DNA, it’s called a balanced translocation. Carriers are usually healthy and will mostly only discover they are carriers when they try to get pregnant.
How does a translocation affect having children?
If you carry a balanced translocation, you have an increased chance of passing on an unbalanced form of the translocation when you get pregnant. An unbalanced translocation has extra or missing DNA.
A pregnancy carrying an unbalanced translocation may show physical anomalies and/or may miscarry. A child born with an unbalanced translocation may show physical and/or learning difficulties.
I carry a translocation. Can I have NIPT?
percept NIPT can be used to screen a pregnancy for chromosome conditions and unbalanced translocations.
Until recently, the only prenatal testing option available to reciprocal translocation carriers was a chorionic villus sampling (CVS) or amniocentesis. However, these tests are invasive and carry a risk of miscarriage.
NIPT is non-invasive and carries no risk of miscarriage.
How do I access percept NIPT?
The first step is to discuss testing with your doctor or with one of our genetic counsellors. We’ll need to review your history before we can confirm if percept NIPT will be suitable or not. Our genetic counsellors can discuss this process and your screening options with you.
Learn more about percept NIPT on our website or contact our team for more information.