Reproductive Genetic Carrier Screening

Published 27th May 2022 | Dr Ujwala Parashar

Most couples will have healthy children that are unaffected by genetic conditions. However, some couples unknowingly pass on faulty genes that can impact the health and development of their children.

What is reproductive genetic carrier screening?

Reproductive genetic carrier screening identifies gene faults that are associated with health conditions and involves screening tests that are carried out before conception or in early pregnancy.  The aim is to assess the likelihood of your child being born with a genetic condition. These tests are different to other screening tests that are undertaken during pregnancy to determine the chances of a baby having Down syndrome, or another chromosomal condition.

How common are genetic conditions and who is affected?

Many people are carriers of gene faults. Recent Australian studies found that of 12,000 women screened, 1 in 20 were carriers of a genetic condition.  The study also found:
  • That their combined risk of having a baby with a genetic condition is comparable to the risk of having a baby with Down syndrome
  • Approximately 80% of children born with a genetic condition have no family history
  • We are all carriers of at least 3-5 genetic conditions but may never be aware of it - as all carriers are mostly healthy individuals with no family history of the genetic conditions they carry.

What are the recommendations regarding genetic carrier screening?

As a result of the data gained from the studies conducted, The Royal Australia and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) together with the Human Genetics Society of Australia (HGSA) now recommend reproductive carrier screening for the most common conditions be offered to all pregnant women and those planning a pregnancy.
Although screening can be carried out at any time during your pregnancy, it is best to consider screening prior to conception as this will give you the time to consider and discuss your options.

What conditions does reproductive genetic carrier screening test for?

There are a number of reproductive carrier screening tests available that test for the most common genetic conditions, as well as more extensive panels that screen for hundreds of other genetic conditions.

What are the most common genetic conditions?

The most common inherited genetic conditions are:
  • Cystic fibrosis (CF)
  • Spinal muscular atrophy (SMA)
  • Fragile X syndrome (FXS)

How are genetic carrier screening tests conducted?

Carrier screening for the 3 most common genetic conditions as well as expanded reproductive genetic carrier screening testing is performed on a saliva or a blood sample.

How is reproductive genetic carrier screening arranged?

If you are planning on becoming pregnant, please arrange for a consultation with Dr Parashar. She will be able to discuss all aspects of your pregnancy planning with you in detail and advise of the screening options available as well as arrange for the suitable tests.

Dr Ujwala Parashar, Obstetrician & Gynaecologist

Sam Samant

Dr Ujwala Parashar is a highly trained female obstetrician and gynaecologist with over 15 years of professional experience and training, practicing in Sydney's North Shore and Barangaroo. If you would like more information on conception, or if you are seeking obstetric options and advice, please contact us or call 1300 811 827 to arrange a consultation with her.