Study backs wider carrier screening for Fragile X syndrome

August 1st, 2017

It is estimated that 1 in 250 women are carriers of the Fragile X premutation. These women may be at risk of having a child affected by Fragile X. Testing for Fragile X carrier status is currently available, but current guidelines only recommend carrier screening to women with a family history of Fragile X syndrome.

New research by the Murdoch Childrens Research Institute has found that carrier screening can be offered to women with minimal psychosocial harms, as long as the appropriate information is provided and pre-screening genetic counselling is offered. The findings from this research support the authors’ recommendation that Fragile X screening be offered to women in the general population who are planning to start a family.

The study provides evidence to counter existing concerns about offering Fragile X screening in the general population. It calls for current international guidelines to be updated to include routine offering of Fragile X carrier screening to women in the general population, regardless of family history of Fragile X or perceived risk.

The results of the study were covered widely in the media on Monday 31 July 2017, in newspapers, radio, TV broadcasts and social media. Authors of the study included Professor Sylvia Metcalfe, Group Leader, Genetics Education and Health Research, Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, and Dr Jonathan Cohen, Director of Fragile X Alliance Inc and Genetic Clinics Australia.

The media coverage featured interviews with Prof Metcalfe, Dr Cohen, and Kerry Moore, who has a 15-year old son with Fragile X syndrome.

Major coverage included:

Channel Ten Eye Witness News, 31 July 2017:

Sydney Morning Herald, 31 July 2017:

Melbourne University website, 31 July 2017: Study backs wider carrier screening for Fragile X syndrome

ABC Radio – The World Today, 31 July 2017 reported by Katherine Gregory

The Fragile X Association of Australia strongly supports screening for FXS or FX carrier status in all women prior to or in early pregnancy, in order to provide the widest range of family planning options. The FXAA position on diagnosis and screening is in full on this website

The Association also recommends couples be fully informed of the implications of screening for Fragile X and genetic counselling in the event of a positive diagnosis of Fragile X carrier status or Fragile X syndrome.

The study
An abstract of the study  “Informed decision making and psychosocial outcomes in pregnant and non-pregnant women offered population Fragile X carrier screening” is available here 

The full paper is available on the website Genetics in Medicine:


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