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Research supports population screening for fragile X syndrome in women of reproductive age

February 06, 2016

More Study Needed on Newborn Screening for Fragile XIn contrast, the review found just one study evaluating the benefits of testing for fragile X syndrome in newborns??far short of the evidence needed to recommend screening. An important consideration is the fact that, unlike some other conditions for which newborn screening is performed, there's currently no early treatment that can improve the outcomes for newborns affected by fragile X syndrome.

Testing for fragile X syndrome later in infancy might be a good alternative to newborn screening, according to an accompanying editorial by Bradford Coffee, Ph.D., of Emory University. He suggests that performing fragile X screening around one year of age would allow early education for affected infants. It would also avoid the "diagnostic odyssey" experienced by families of children affected by fragile X syndrome??currently, the average age at diagnosis is about three years.

The "unique biology" of fragile X syndrome raises questions different from those of other genetic diseases, Dr. Coffee points out. Screening may detect "premutations" of the FMR1 gene that don't cause fragile X syndrome??but may cause other health problems later in life, and may lead to fragile X syndrome in future generations. In addition, many girls who test positive for the "full" FMR1 mutation don't develop fragile X syndrome.

Dr. Coffee agrees that effective public education will be an essential part of any large-scale fragile X screening program. "Given that the vast majority of the general public has never heard of fragile X syndrome, much less are aware of the complexities of screening and predictive testing of premutation-associated disorders, educational and counseling services need to be developed to inform families of the risks and benefits of the screening," Dr. Coffee writes. He adds that any type of fragile X screening program is far more likely to be successful if the process is "voluntary and transparent."

SOURCE Genetics in Medicine