Preconception Genetic Carrier Screening

There are more than 5000 conditions with a known genetic basis. Many of these conditions are autosomal recessive which means that carriers of these conditions have no symptoms.

Preconception genetic carrier screening or just "genetic carrier screening" identifies carriers of recessive genes. A carrier of a disease  has  one normal and one affected gene but mild or no symptoms of a disease. This is only an issue if both parents are carriers and both can pass an affected gene to their baby. A baby with two affected genes will develop the disease.

 The test is usually done before conception and initially only on the woman. If she is a carrier of one or more conditions, the male partner is then also tested.

We recommend genetic carrier screening in line with RANZCOG guidelines. For most couples a limited screening test for the most common conditions ie Cystic fibrosis, Spinal Muscular Atrophy and Fragile X syndrome is sufficient. There are enhanced screening tests available that test for more than 280 abnormalities and another test specifically designed for people from Askenazi Jewish descent. The limited test that tests for Cystic Fibrosis, SMA and Fragile X is covered by Medicare  ($350 if not eligible) and around $800 for the comprehensive carrier screening test.

For more information please follow this link:

RANZCOG: Genetic Carrier Screening