| High-resolution array genomic hybridization in prenatal diagnosis. | |
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MedLine Citation:
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PMID: 19009552 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Array genomic hybridization (AGH) can detect chromosomal gains or losses that are 100 times smaller than those identifiable by conventional cytogenetic methods. Genome-wide AGH can identify genomic imbalance that causes birth defects and mental retardation at least twice as frequently as conventional cytogenetic analysis. Using AGH as a prenatal test for fetal genomic imbalance offers the promise of detecting pathogenic gain or loss of genomic material more quickly and much more frequently than current methods. However, the chance of finding a result of uncertain clinical significance is much greater than with conventional cytogenetic analysis, and the benefit-cost ratio of doing AGH in addition to conventional cytogenetic analysis in pregnancies at high risk for Down syndrome is likely to be poor. Very little is known about the natural history and range of clinical variability associated with most pathogenic submicroscopic copy number variants (CNVs). It seems doubtful that patients can be adequately counseled for prenatal AGH testing in most cases because the risks and benefits are unknown. At present, AGH should be offered for prenatal diagnosis only if the pregnancy is at especially high risk of having a pathogenic CNV or if AGH is being done as part of a clinical trial. |
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Authors:
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J M Friedman |
Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Prenatal diagnosis Volume: 29 ISSN: 0197-3851 ISO Abbreviation: Prenat. Diagn. Publication Date: 2009 Jan |
Date Detail:
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Created Date: 2009-02-03 Completed Date: 2009-05-15 Revised Date: - |
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: 20-8 Citation Subset: IM |
Copyright Information:
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Copyright (c) 2008 John Wiley & Sons, Ltd. |
Affiliation:
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Department of Medical Genetics, University of British Columbia, and Medical Genetics Research Unit, Child and Family Research Institute, Children's and Women's Hospital, Vancouver, British Columbia, Canada. frid@interchange.ubc.ca |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Comparative Genomic Hybridization
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methods* Female Gene Dosage / genetics Humans Polymorphism, Single Nucleotide / genetics Pregnancy Prenatal Diagnosis* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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