| Preconceptional and prenatal screening for fragile X syndrome: experience with 40,000 tests. | |
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MedLine Citation:
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PMID: 17705235 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVES: To determine the carrier frequency of fragile X syndrome, and the rate of expansion from premutation (PM) carrier to full mutation (FM) fetus. METHODS: Results were analyzed on women with no family history of fragile X syndrome, or who were PM/FM carriers, who were tested between January 1994 and June 2004. PM was defined 55-199 repeats, FM above 200. RESULTS: Out of 40 079 women screened, 5 FM and 255 PM carriers were detected. There was no significant difference in carrier frequency between those with versus those without family history of mental retardation or developmental abnormalities: 1 in 128 (28/3596) versus 1 in 157 (232/36 483). However, the median of repeats differed significantly: 58 and 66 repeats, respectively, (P < 0.0001). Invasive prenatal diagnosis was carried out in 370 pregnancies (7 FM and 363 PM). Thirty FM fetuses were detected. There was a lower expansion rate in cases without a family history: 10% (17/169 PMs) compared to 50% (11/22 PMs) in those with a history, but this could be accounted for by the difference in allele size. CONCLUSION: There is now sufficient information on screening parameters and prenatal diagnosis of fragile X syndrome to offer testing to women of reproductive age. |
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Authors:
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Michal Berkenstadt; Liat Ries-Levavi; Howard Cuckle; Leah Peleg; Gad Barkai |
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Publication Detail:
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Type: Evaluation Studies; Journal Article |
Journal Detail:
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Title: Prenatal diagnosis Volume: 27 ISSN: 0197-3851 ISO Abbreviation: Prenat. Diagn. Publication Date: 2007 Nov |
Date Detail:
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Created Date: 2007-10-29 Completed Date: 2008-02-11 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: England |
Other Details:
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Languages: eng Pagination: 991-4 Citation Subset: IM |
Affiliation:
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Danek-Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel. mberken@sheba.health.gov.il |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Autistic Disorder
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diagnosis,
genetics Female Fetal Diseases / diagnosis, genetics Fragile X Syndrome / diagnosis*, genetics Gene Frequency Genetic Testing* Heterozygote Detection Humans Male Mental Retardation / diagnosis, genetics Pregnancy Preimplantation Diagnosis / methods* Prenatal Diagnosis / methods* Retrospective Studies |
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