Preconception and antenatal screening for the fragile site on the X‐chromosome

Preconception and antenatal screening for the fragile site on the X‐chromosome No strong evidence to show who, other than women at risk, should be screened before or during pregnancy for fragile X syndrome. Fragile X syndrome is caused by an inherited genetic defect that can result in mental disabil...

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Bibliographic Details
Published in:Cochrane database of systematic reviews 2003-01, Vol.2003 (1)
Main Authors: Kornman, Louise H, Nisbet, Debbie L, Liebelt, Jan
Format: Article
Language:English
Subjects:
Developmental, psychosocial & learning problems
Fetal assessment before labour
Genetic disorders
Neurology
Pregnancy & childbirth
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Summary:Preconception and antenatal screening for the fragile site on the X‐chromosome No strong evidence to show who, other than women at risk, should be screened before or during pregnancy for fragile X syndrome. Fragile X syndrome is caused by an inherited genetic defect that can result in mental disability. There is no way of reversing the syndrome. Although it runs in families, many people do not realise they are carriers until they have an affected child. A blood test can identify whether a person is a carrier, and therefore whether a test on the unborn baby is worthwhile. Currently, only women who are thought to be more likely to pass on fragile X are offered testing before or during pregnancy. There are no trials to show whether offering the test to everyone is worthwhile.
ISSN:1469-493X
DOI:10.1002/14651858.CD001806