Preconception Screening

What is Preconception Screening?

Preconception screening is a pre-pregnancy genetic test that is used to screen for disorders in both male and female patients.  Preconception screening can indicate the likelihood of passing on genetic disorders to your child.

Recessive (or silent) genetic diseases do not cause symptoms in the people who carry them.  They go largely undetected until the birth of a child with a genetic condition.

Preconception Screening is a blood test.  It looks at mutations in the DNA of 552 genes and determines your ‘carrier’ status for 590 diseases.  Some of the more common diseases covered include Cystic Fibrosis, adrenal hyperplasia, adrenoleukodystrophy, phenylketonuria.

What is a genetic mutation, or genetic variation?

Genes are inherited from both of your parents and provide the information that will determine your physical makeup.  For example, your genes contain the instructions for your individual characteristics – like eye and hair colour. 

They also determine how your body will function, through the development of proteins.  Proteins are the building blocks of life.  Each gene contains the information required to build specific proteins.

Genes come in different forms (called alleles), and most people are unaware that we all have some level of variation in our genes.  Most of this variation is harmless, but some variations mean that important proteins don’t function as intended.  These genetic variations, or genetic mutations, cause disease.

Genetic testing gives us the ability to look for these mutations in your genes.

A person is called a ‘carrier’ when they have a recessive genetic mutation that does not cause any health issues. If you and your partner both carry the same recessive mutation there is a 1 in 4 chance that you will pass that genetic disorder on to your children.

If you are aware of a family history of specific gene mutations, you should discuss this with your doctor in order to determine if this screen will test for that mutation.

Pre-pregnancy genetic testing is performed in the Queensland Fertility Group Genetics.

What if my test is positive?

If your test is positive to a gene mutation, Dr Flynn, in conjunction with a geneticist and genetic counsellor will discuss the implications of your results, and plan your future strategy.

If you and your partner are identified as carrying a mutation for the same gene there are options available to you, such as IVF with preimplantation genetic testing (PGT) or prenatal diagnosis.