What is Genetic Carrier Screening?

Reproductive genetic carrier screening tests you and your partner for genetic changes which have little or no impact on your own health, but may cause significant health conditions for your children.

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) and the Human Genetics Society of Australia (HGSA) have released guidelines which recommend that information about reproductive carrier screening be offered to every woman either prior to conception, or in early pregnancy. In particular, the RANZCOG guidelines recommend options for carrier screening include screening with a panel for a limited selection of the most frequent conditions or screening with an expanded panel that contains many disorders (up to hundreds). (March 2019)

These 3 conditions, Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X are among the most common inherited conditions in Australia. However, there are hundreds of genetic conditions which are inherited in the same way. Some of these genetic conditions may be more relevant if you are from a specific ethnic background. At Sydney Ultrasound for Women, we can test for hundreds of genetic changes at the same time using DNA sequencing technology, known as expanded carrier screening.

We are all carriers of at least 3-5 genetic conditions, but may never be aware of it. Most carriers are healthy individuals who have no family history of the genetic condition(s) they carry.

Although carrier screening can be done at any time, it is best to be tested before you become pregnant, this will give you the opportunity to discuss your reproductive options, without a time restriction.

Who should have Reproductive Genetic Screening?

  • Those early in their pregnancy
  • Those planning a pregnancy (regardless of previous genetic history)
  • Those planning a pregnancy with a donor
  • Anyone who has a family history of genetic conditions