| Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non-selective application of a MLPA-based extended prenatal panel in routine prenatal diagnosis. | |
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MedLine Citation:
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PMID: 21448863 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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OBJECTIVE: To present the application of multiplex ligation-dependent probe amplification (MLPA)-based screening approach in 1550 typical prenatal cases, for the simultaneous targeted detection of 23 recurrent microdeletion syndromes as well as subtelomeric copy number assessment for all chromosomes and discuss the implications in routine prenatal chromosomal diagnosis (PCD). METHODS: Following amniocentesis or chorionic villus sampling, samples were processed for routine karyotype analysis while DNA was extracted in parallel for MLPA analysis. When necessary, parental samples were analyzed to determine the inheritance of the detected aberrations. RESULTS: This panel has been applied since 2006 in 1550 prenatal samples, referred for routine karyotype analysis, with (16.1%) or without (77.7%) ultrasound (US) findings. We identified eight fetuses with pathological genomic abnormalities (approximately 1 in 193), five of which had as sole indication advanced maternal age (1 in 240). In two cases an abnormality was suspected from karyotype analysis, while the remaining six cases would have otherwise remained totally undetected. CONCLUSIONS: Our data represent the largest published series involving this type of genomic analysis in routine prenatal diagnosis, without indication bias. The panel increases significantly the diagnostic yield of conventional PCD and does not pose interpretation problems. Copyright © 2011 John Wiley & Sons, Ltd. |
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Authors:
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Christopher Konialis; Birgitta Hagnefelt; Sophia Sevastidou; Sophia Karapanou; Katerina Pispili; Aggeliki Markaki; Constantinos Pangalos |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-3-29 |
Journal Detail:
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Title: Prenatal diagnosis Volume: - ISSN: 1097-0223 ISO Abbreviation: - Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-3-30 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 John Wiley & Sons, Ltd. |
Affiliation:
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InterGenetics - Diagnostic Genetics Centre, Athens, Greece. genetic@ath.forthnet.gr. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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