| Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses. | |
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MedLine Citation:
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PMID: 20801083 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X syndrome (FXS) is the most common inherited form of mental retardation. It is caused by a CGG repeat expansion, which results in hypermethylation and silencing of the FMR1 gene. The results from 213 FXS prenatal diagnoses performed in the study centre were reviewed. Family history of FXS or undiagnosed mental retardation (MR) were the reasons for referral and 64% of mothers were not aware of their status so prenatal and mother tests were performed at the same time. Among those women referred for family history of unknown MR, 17.6% were found to be FXS carriers. The attitudes and perceptions of the syndrome of 52 FXS carriers were also evaluated. Most of them had been diagnosed as carriers when the child was already born and the most common feeling was sadness, followed by impotence and guilt. The majority of them had received genetic counselling and they considered it useful. Regarding reproductive options, prenatal diagnosis was chosen by 40.5% of women. Prenatal diagnosis for FXS is a good reproductive option and it should be carried out whenever family history of MR is present. A high percentage of FXS carriers are detected following this approach. |
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Authors:
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M Xunclà; C Badenas; M Domínguez; L Rodríguez-Revenga; I Madrigal; L Jiménez; A Soler; A Borrell; A Sánchez; M Milà |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-06-16 |
Journal Detail:
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Title: Reproductive biomedicine online Volume: 21 ISSN: 1472-6491 ISO Abbreviation: Reprod. Biomed. Online Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-09-27 Completed Date: 2011-01-13 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101122473 Medline TA: Reprod Biomed Online Country: Netherlands |
Other Details:
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Languages: eng Pagination: 560-5 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved. |
Affiliation:
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Servei de Bioquímica i Genètica Molecular, Hospital Clinic, Barcelona, Spain. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Attitude to Health* Female Fragile X Syndrome / diagnosis*, genetics Genetic Counseling Genetic Testing Humans Mental Retardation / genetics Parents Pregnancy Prenatal Diagnosis* Questionnaires |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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