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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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Published in: | Cochrane database of systematic reviews 2003-01, Vol.2003 (1) |
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creator | Kornman, Louise H Nisbet, Debbie L Liebelt, Jan |
description | 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. |
doi_str_mv | 10.1002/14651858.CD001806 |
format | article |
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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.</description><identifier>EISSN: 1469-493X</identifier><identifier>DOI: 10.1002/14651858.CD001806</identifier><identifier>PMID: 11869607</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Developmental, psychosocial & learning problems ; Fetal assessment before labour ; Genetic disorders ; Neurology ; Pregnancy & childbirth</subject><ispartof>Cochrane database of systematic reviews, 2003-01, Vol.2003 (1)</ispartof><rights>Copyright © 2010 The Cochrane Collaboration. Published by John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3076-7aa6b57aed1b6637b5ae3c6d4cea801afb42fd5eb1738e9414a963241dcda44f3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,777,781,882,27905,27906</link.rule.ids></links><search><creatorcontrib>Kornman, Louise H</creatorcontrib><creatorcontrib>Nisbet, Debbie L</creatorcontrib><creatorcontrib>Liebelt, Jan</creatorcontrib><title>Preconception and antenatal screening for the fragile site on the X‐chromosome</title><title>Cochrane database of systematic reviews</title><description>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.</description><subject>Developmental, psychosocial & learning problems</subject><subject>Fetal assessment before labour</subject><subject>Genetic disorders</subject><subject>Neurology</subject><subject>Pregnancy & childbirth</subject><issn>1469-493X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><recordid>eNpVjM9KAzEYxIMgtlYfwFteYGvS_N2LIFWrULAHhd6Wb5Nv28huUrKr4M1H8Bl9Elf04mFm4DfDEHLB2ZwztrjkUitulZ0vbxjjlukjMh1ZWchSbCfktO9fGBMl5_aETEbXpWZmSjabjC5Fh4chpEgh-lEDRhigpb3LiDHEHW1SpsMeaZNhF1qkfRiQjvsftv36-HT7nLrUpw7PyHEDbY_nfzkjz3e3T8v7Yv24elherwsnmNGFAdC1MoCe11oLUytA4bSXDsEyDk0tF41XWHMjLJaSSyi1WEjunQcpGzEjV7-_h9e6Q-8wDhna6pBDB_m9ShCq_00M-2qX3iormVFciW9hu16c</recordid><startdate>20030120</startdate><enddate>20030120</enddate><creator>Kornman, Louise H</creator><creator>Nisbet, Debbie L</creator><creator>Liebelt, Jan</creator><general>John Wiley & Sons, Ltd</general><scope>5PM</scope></search><sort><creationdate>20030120</creationdate><title>Preconception and antenatal screening for the fragile site on the X‐chromosome</title><author>Kornman, Louise H ; Nisbet, Debbie L ; Liebelt, Jan</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3076-7aa6b57aed1b6637b5ae3c6d4cea801afb42fd5eb1738e9414a963241dcda44f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Developmental, psychosocial & learning problems</topic><topic>Fetal assessment before labour</topic><topic>Genetic disorders</topic><topic>Neurology</topic><topic>Pregnancy & childbirth</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kornman, Louise H</creatorcontrib><creatorcontrib>Nisbet, Debbie L</creatorcontrib><creatorcontrib>Liebelt, Jan</creatorcontrib><collection>PubMed Central (Full Participant titles)</collection><jtitle>Cochrane database of systematic reviews</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kornman, Louise H</au><au>Nisbet, Debbie L</au><au>Liebelt, Jan</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Preconception and antenatal screening for the fragile site on the X‐chromosome</atitle><jtitle>Cochrane database of systematic reviews</jtitle><date>2003-01-20</date><risdate>2003</risdate><volume>2003</volume><issue>1</issue><eissn>1469-493X</eissn><abstract>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.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>11869607</pmid><doi>10.1002/14651858.CD001806</doi><oa>free_for_read</oa></addata></record> |
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identifier | EISSN: 1469-493X |
ispartof | Cochrane database of systematic reviews, 2003-01, Vol.2003 (1) |
issn | 1469-493X |
language | eng |
recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8407515 |
source | Alma/SFX Local Collection |
subjects | Developmental, psychosocial & learning problems Fetal assessment before labour Genetic disorders Neurology Pregnancy & childbirth |
title | Preconception and antenatal screening for the fragile site on the X‐chromosome |
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