Preconception Carrier Screening
Preconception carrier screening is a simple genetic test you can do before pregnancy. It checks if you and your partner carry gene changes that could be passed on to your children.
Most people are carriers of at least one genetic condition without knowing it. If both partners carry the same condition, there’s a 1 in 4 chance their child could be affected.
Carrier screening gives you important information to help you plan ahead for a healthy family.
Extended carrier screening can identify disease causing genes using sensitive DNA sequencing technologies. Many people are carriers of a disease gene and 1 in 40 or around 2.3% of reproductive partners are found to be carriers of the same genetic disease having a 25% or 1 in 4 chance of having a child affected with the genetic condition.
Extended carrier screening is a test before pregnancy that checks if you carry genes for certain inherited conditions. It helps you plan ahead and make informed choices, so you know your options before or early in pregnancy.
Extended carrier screening can test for hundreds of different conditions simultaneously. Tests are available from commercial providers using differing combinations of gene panels and technologies. It is important that the carrier test you choose is right for you. Informed consent, results, expectations and residual risk assessment post testing should be clear before embarking on testing.
If you would like to have extended carrier screening you may prefer to stage the testing. One partner tests first to check if they are a carrier for any condition. If a carrier status is identified then the other partner can have follow up testing.
Some people prefer to be tested together before conceiving or at the start of their IVF treatment, as results can take up to 3 weeks.
Many egg and donor banks now provide extended carrier screening results for their donors. Carrier screening to check your carrier status against that of a donor can be arranged to help with your donor selection process.