www.Grub4Life.com today reports that there's new research data to support screening women of childbearing age for fragile X syndrome—the most common inherited cause of cognitive impairment, according to a report in Genetics, the official peer-reviewed journal of The American College of Medical Genetics.
20-07-2010
Because of low public awareness of this complex genetic syndrome, educating women on it are essential.
Fragile X syndrome causes cognitive impairment and other abnormalities, and affects about 1 in 4,000 males in the United States (It also occurs in females, but causes less severe impairment). Fragile X syndrome is caused by mutations of a gene called FMR1. Although estimates vary, 1 in 300 to 400 U.S. couples may be carriers of the abnormal genes. In recent years, accurate and practical tests to identify carriers of the abnormal FMR1 genes have been developed.
In their review, researchers identified eleven studies evaluating the benefits of fragile X screening in women of reproductive age. Although some of the studies included pregnant women, there are several key advantages to identifying fragile X gene carriers before conception. The women in the studies found fragile X screening acceptable and appreciated having the option of screening, whether or not they chose to be tested.
Fragile X screening in women of reproductive age "clearly meets established criteria" for genetic screening programs. However, they emphasize the need for new strategies as well as more research to evaluate impacts of fragile X screening. They write, "It is crucial that future studies offering screening for fragile X syndrome explore a range of psychosocial aspects in addition to looking at uptake of screening and mutation frequency."
Newborn Screening for Fragile X
In 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. Performing fragile X screening around the age of one 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.
Read the full story at: http://www.newswise.com/articles/view/566162/?sc=dwhn
Source and thanks to www.newswise.com.
