The Preconception screen is a blood test that you can have before you become pregnant, to help determine your likelihood as a couple of having a baby with a genetic disorder that can negatively impact the baby’s health.
There are more than 3,000 inherited disorders that are individually rare, but collectively affect approximately 1% of births.
How does the Preconception screen test work?
The Preconception screen determines your carrier status for 590 diseases. It does this by looking at mutations in your DNA in 552 genes. This screen covers genes known to cause diseases in early childhood.Some of the more common diseases covered include cystic fibrosis, adrenal hyperplasia, adrenoleukodystrophy and phenylketonuria.
If you are aware of a family history of specific gene mutations you should discuss this with your fertility specialist in order to determine if this screen will test for that mutation.
The test is performed in the Virtus Health Genetics Laboratory using Next Generation Sequencing - the most advanced technology available for sequencing.
Should my partner be tested?
It is likely that the majority of people will have 4-5 DNA changes (mutations that may cause disease) in the genes tested. Both you and your partner need to be screened to determine if you both carry mutations in the same gene, and are therefore at risk of having a child with a specific disease. We recommend screening at the same time.
What if I test positive?
If you and your partner are identified as carrying a mutation from the same gene, your fertility specialist will explain the clinical options available to you and arrange genetic counselling for both of you. Counselling will discuss clinical symptoms of the disease and available diagnostic options.
The information you obtain can then be used in planning future pregnancies and deciding on any possible forms of diagnostic intervention (for example preimplantation genetic diagnosis or prenatal diagnosis).
Mutations of pathological significance, only carried by one parent, will also be reported and discussed as this information may have significance in your exended family.
How much does it cost?
The test costs $750 per person or $1400 per couple. If either of you have a family history of one of the diseases being tested for, you should inform your treating clinician because you may be entitled to reduced cost testing.