The Australian newspaper recently published an article, Screening for fragile X sidelined, which discusses the issue of testing for Fragile X by screening newborns or testing of women before they become pregnant.

Fragile X is unusual in that not only are males and females affected by it, a significant number of carriers also suffer their own health issues. Males may develop FXTAX, a degenerative disorder, and females suffer from early menopause and problems with conception. Estimates indicate that around one in 260 women are carriers of Fragile X. Add that to the one in 3600 males and between one in 4000 and one in 6000 females affected by a full mutation, the numbers become significant.

Typically newborn screening is carried out to test for life-threatening conditions but recent studies by an expert on young children with disabilities and  president of the US National Fragile X Foundation, Don Bailey PhD, show that parents overwhelming believe newborn screening for Fragile X is a good idea. Don stresses it would have to be voluntary. Don and colleagues have now launched a pilot study offering newborn screening to a sample of parents to see how many agree to screening, whether they are satisfied with the consent process, whether they are glad they participated, and also looking at the impact on families six to 12 months after screening is carried out.

The other option of screening is testing women before they become pregnant.  Although males can be carriers too they only pass on a pre-mutation to their children. Associate professor Sylvia Metcalfe, from the University of Melbourne and Murdoch Children’s Research Institute, says pre-pregnancy testing “offers a woman more reproductive options than testing when she is already pregnant, or testing a newborn”. Sylvia and colleagues are now conducting a series of pilot studies into pre-pregnancy testing, looking at how such a screening program might work, and how acceptable it would be to women, the community and health professionals.

Our Association President, John Kelleher and his family are featured in the article. John says that “early diagnosis would have saved an awful lot of angst in the kids’ lives — and certainly improved the quality of it,” Although there is as yet no cure for Fragile X, therapy, educational modifications and medication can be of great benefit. Early intervention is important. Don Bailey, says that “Despite all the publicity about fragile X in the last five years, there has been no change in average age of diagnosis: 36 months of age is the average age in the US when a child would be identified.” and that “more than a quarter of families had a second child with fragile X before the first child got diagnosed, because they don’t know about carrier status.”

If you want to read more about this issue

On Pediatrics online – Ethical, Legal, and Social Concerns About Expanded Newborn Screening: Fragile X Syndrome as a Prototype for Emerging Issues – Donald B. Bailey, Jr, PhDa, Debra Skinner, PhDb, Arlene M. Davis, JDc, Ian Whitmarsh, PhDb and Cynthia Powell, MDd, PEDIATRICS Vol. 121 No. 3 March 2008, pp. e693-e704 (doi:10.1542/peds.2007-0820)

Please let us have your feedback on this subject. Would you opt for either pre-pregnancy testing or newborn screening for Fragile X if you had the choice?