Women prefer screening before pregnancy for Fragile X Syndrome


According to a study, there is evidence that supports screening for Fragile X syndrome in potential mothers. This study was published by Wolters Kluwer Health: Lippincott Williams and Wilkins’ July issue of Genetics in Medicine. This is the official peer-reviewed journal of The American College of Medical Genetics,

Fragile X syndrome is caused by a malformation of a gene called FMR1. This mutation causes cognitive impairment and other co-morbid disorders. Approximately 1 in 4,000 males currently have Fragile X Syndrome and yet awareness of this disorder is low. Females are also affected by Fragile X syndrome but often to a lesser degree.


The study was a review of evidence about the psychosocial issues surrounding the acceptance of prescreening for Fragile X syndrome by women of reproductive ages. Some women in some of the reviewed studies were already pregnant. Women appreciated having the option to test, whether or not they actually chose to go through with the screening.

As for newborn screening, there were insufficient studies conducted for an in-depth review. Only one such study existed that evaluated the benefits of screening infants for Fragile X syndrome. Instead, Dr. Bradford Coffee, Ph.D. of Emory University suggests screening later in infancy (about age one) since the benefits were not found to be sufficient for earlier screening. This is because there is no early treatment that the newborns could receive if their diagnosis is received early in life. However, if tested and diagnosed at around age one, early education for the parents can begin and a treatment plan can be in place by time the child reaches school age as well as offering early intervention services.

The early education parents receive after pre-screening for Fragile X syndrome, would be given during genetic counseling. If a parent is informed ahead of time the possible or probably outcomes for his or her child, he or she will be more mentally prepared to deal with such outcomes should they come to pass. Not every child with a mutation in the gene actually develops Fragile X syndrome. With pre-screening, the outcomes of children with Fragile X syndrome could be improved.

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