| A systematic review of population screening for fragile X syndrome. | |
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MedLine Citation:
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PMID: 20548240 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Melissa K Hill; Alison D Archibald; Jonathan Cohen; Sylvia A Metcalfe |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Genetics in medicine : official journal of the American College of Medical Genetics Volume: 12 ISSN: 1530-0366 ISO Abbreviation: Genet. Med. Publication Date: 2010 Jul |
Date Detail:
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Created Date: 2010-07-15 Completed Date: 2010-10-21 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9815831 Medline TA: Genet Med Country: United States |
Other Details:
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Languages: eng Pagination: 396-410 Citation Subset: IM |
Affiliation:
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Genetics Education and Health Research, Murdoch Childrens Research Institute, Melbourne, Australia. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Female Fragile X Syndrome / diagnosis*, genetics Genetic Testing* Humans Infant, Newborn Neonatal Screening* Pregnancy Prenatal Diagnosis |
| Comments/Corrections | |
Comment In:
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Genet Med. 2010 Jul;12(7):411-2
[PMID:
20535018
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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