PURPOSE: To conduct a systematic review of literature regarding population-based screening for fragile X syndrome in newborns and women of reproductive age, either before or during pregnancy. METHODS: Seven electronic databases were searched for English language studies published between January 1991 and November 2009. Data extraction was performed for all included studies. Results were synthesized using a narrative approach. RESULTS: One article that examined offering newborn screening for fragile X syndrome and 10 that examined the offer of fragile X syndrome screening to women of reproductive age were identified. Two of these articles also addressed psychosocial aspects of population screening for fragile X syndrome such as attitudes to screening and experiences of screening, and a further nine addressed these issues alone. Studies exploring psychosocial issues demonstrated challenges for counseling arising from a lack of awareness or personal experience with fragile X syndrome in the general population. CONCLUSIONS: Targeted counseling and educational strategies will be essential to support women from the general population. 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 testing and mutation frequency.
PURPOSE: To conduct a systematic review of literature regarding population-based screening for fragile X syndrome in newborns and women of reproductive age, either before or during pregnancy. METHODS: Seven electronic databases were searched for English language studies published between January 1991 and November 2009. Data extraction was performed for all included studies. Results were synthesized using a narrative approach. RESULTS: One article that examined offering newborn screening for fragile X syndrome and 10 that examined the offer of fragile X syndrome screening to women of reproductive age were identified. Two of these articles also addressed psychosocial aspects of population screening for fragile X syndrome such as attitudes to screening and experiences of screening, and a further nine addressed these issues alone. Studies exploring psychosocial issues demonstrated challenges for counseling arising from a lack of awareness or personal experience with fragile X syndrome in the general population. CONCLUSIONS: Targeted counseling and educational strategies will be essential to support women from the general population. 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 testing and mutation frequency.
Authors: Alison D Archibald; Chriselle L Hickerton; Samantha A Wake; Alice M Jaques; Jonathan Cohen; Sylvia A Metcalfe Journal: J Community Genet Date: 2016-02-03
Authors: Lillian M Zwemer; Sarah L Nolin; Patricia M Okamoto; Marcia Eisenberg; Heather C Wick; Diana W Bianchi Journal: Prenat Diagn Date: 2016-10-25 Impact factor: 3.050
Authors: Alice G Ames; Alice Jaques; Obioha C Ukoumunne; Alison D Archibald; Rony E Duncan; Jon Emery; Sylvia A Metcalfe Journal: Health Expect Date: 2012-10-15 Impact factor: 3.377