Document Detail

Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21.
MedLine Citation:
PMID:  21378977     Owner:  NLM     Status:  MEDLINE    
The trials performed worldwide toward noninvasive prenatal diagnosis (NIPD) of Down's syndrome (or trisomy 21) have shown the commercial and medical potential of NIPD compared to the currently used invasive prenatal diagnostic procedures. Extensive investigation of methylation differences between the mother and the fetus has led to the identification of differentially methylated regions (DMRs). In this study, we present a strategy using the methylated DNA immunoprecipitation (MeDiP) methodology in combination with real-time quantitative PCR (qPCR) to achieve fetal chromosome dosage assessment, which can be performed noninvasively through the analysis of fetal-specific DMRs. We achieved noninvasive prenatal detection of trisomy 21 by determining the methylation ratio of normal and trisomy 21 cases for each tested fetal-specific DMR present in maternal peripheral blood, followed by further statistical analysis. The application of this fetal-specific methylation ratio approach provided correct diagnosis of 14 trisomy 21 and 26 normal cases.
Elisavet A Papageorgiou; Alex Karagrigoriou; Evdokia Tsaliki; Voula Velissariou; Nigel P Carter; Philippos C Patsalis
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Publication Detail:
Type:  Evaluation Studies; Journal Article; Research Support, Non-U.S. Gov't     Date:  2011-03-06
Journal Detail:
Title:  Nature medicine     Volume:  17     ISSN:  1546-170X     ISO Abbreviation:  Nat. Med.     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-04-08     Completed Date:  2011-06-02     Revised Date:  2014-04-22    
Medline Journal Info:
Nlm Unique ID:  9502015     Medline TA:  Nat Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  510-3     Citation Subset:  IM    
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MeSH Terms
Base Sequence
Case-Control Studies
DNA / blood,  genetics
DNA Methylation / genetics*
DNA Primers / genetics
Discriminant Analysis
Down Syndrome / diagnosis*,  genetics*
Fetus / metabolism*
Immunoprecipitation / methods
Polymerase Chain Reaction / methods
Predictive Value of Tests
Prenatal Diagnosis / methods*
Reference Values
Grant Support
079643//Wellcome Trust; //Wellcome Trust
Reg. No./Substance:
0/DNA Primers; 9007-49-2/DNA
Comment In:
Nat Med. 2012 Sep;18(9):1327-8; author reply 1328-9   [PMID:  22961155 ]
Clin Genet. 2012 Apr;81(4):362-3   [PMID:  22171618 ]

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