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Pre-conception and antenatal screening for the fragile site on the X-chromosomeKornman L, Chambers H, Nisbet D, Liebelt J
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SummaryNo strong evidence to show who, other than women at risk, should be screened before or during pregnancy for fragile X syndromeFragile 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.
This is a Cochrane review abstract and plain language summary, prepared and maintained by The Cochrane Collaboration, currently published in The Cochrane Database of Systematic Reviews 2008 Issue 3, Copyright © 2008 The Cochrane Collaboration. Published by John Wiley and Sons, Ltd.. The full text of the review is available in The Cochrane Library (ISSN 1464-780X).
This version first published online:
January 21. 2002 AbstractBackgroundFragile X is the most common cause of mental retardation after Down syndrome. It is the commonest inherited cause of mental retardation, and results from a dynamic mutation in a gene on the long arm of the X chromosome. Various strategies are used for prenatal screening. ObjectivesTo determine whether pre-conceptual or antenatal screening for fragile X carrier status in apparently low risk women confers any additional benefit over the existing practice of offering testing to women thought to be at increased risk. Search strategyWe searched the Cochrane Pregnancy and Childbirth Group trials register (November 2002), the Cochrane Central Register of Controlled Trials (The Cochrane Library, Issue 4, 2002), MEDLINE (January 1980 to October 2002), and reference lists of articles. Selection criteriaRandomised clinical trials comparing women being tested regardless of family history (intervention group) with women tested only when there is a family history of either fragile X and/or other undiagnosed mental illness/impairment (control group). Data collection and analysisThree reviewers independently assessed trial quality. Main resultsNo trials were included. Authors' conclusionsNo information is available from randomised trials to indicate whether routine pre-conceptual or antenatal screening for fragile X carrier status confers any benefit over testing women thought to be at increased risk. |