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Screening

Population carrier screening for FXS identifies women at increased risk of having an affected child, and provides information about their own health risk.

There has been much debate around educational and counselling complexities inherent in such screening. However, the situation has now resolved with two significant advances:

  • Firstly, a number of studies have now been completed which clarify our understanding of how best to offer more widespread testing. Our recent Australian study shows that offering the test to all pregnant women or those planning a family is beneficial. Please see our Carrier Screening article for details.
  • Secondly, the advent of expanded carrier screening which offers testing for over 100 genetic conditions in addition to FXS is now affordable and readily accessible.

For an appointment to discuss which carrier genetic test is appropriate for you, please contact Genetic Clinics Australia.