Document Detail

Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes.
MedLine Citation:
PMID:  21207408     Owner:  NLM     Status:  Publisher    
OBJECTIVES: To develop a targeted aneuploidy and microdeletion detection platform for use in the prenatal setting, to assess the integrity of the platform with a robust validation system, and to prospectively determine the performance of the platform under routine clinical conditions. METHODS: To generate proxies for the various disorders assessed by the assay for analytical validation purposes, cells from ten microdeletion syndromes as well as from common aneuploidies were spiked into cleared amniotic fluid. Genomic DNA was isolated, labeled, and hybridized to microbeads that have been coupled to DNA derived from Bacterial Artificial Chromosome (BAC) from the relevant regions targeted by the array. Beads were read using a flow cytometric multiplex bead array detection system. In the prospective part of the study, 104 amniotic fluid samples were collected and analyzed. RESULTS: All microdeletion syndromes and aneuploidies were validated in a blinded fashion. In the prospective study, the total number of readable samples was 101 of 104 (97%). All sample results were confirmed independently. CONCLUSION: The bead array approach is a rapid and reliable test for detecting aneuploidies and microdeletions. This assay has the potential to provide the benefit of expanded molecular cytogenetic testing to pregnant women undergoing invasive prenatal diagnosis. This approach may be especially useful in parts of the world where cytogenetic personnel and facilities may be limited. Copyright © 2011 John Wiley & Sons, Ltd.
Susan J Gross; Komal Bajaj; David Garry; Susan Klugman; Barry M Karpel; Anne Marie Roe; Brian J Wagner; Jenny Zhan; Stephen D Apfelroth; Nicole Schreiber-Agus
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-1-4
Journal Detail:
Title:  Prenatal diagnosis     Volume:  -     ISSN:  1097-0223     ISO Abbreviation:  -     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-1-5     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Obstetrics and Gynecology, North Bronx Healthcare Network, Albert Einstein College of Medicine, Bronx, NY, USA.
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