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Epigenetic approaches for the detection of fetal DNA in maternal plasma.
MedLine Citation:
PMID:  21327153     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
The presence of fetal DNA in the plasma of pregnant women has opened up new possibilities for noninvasive prenatal diagnosis. Over the past decades, different types of fetal markers have been developed, initially based on discriminative genetic markers such as male-specific signals or paternally-inherited polymorphisms, and gradually evolved to the detection of fetal-specific transcripts or epigenetic signatures. This development has extended the coverage of the application of cell-free fetal DNA to essentially all pregnancies, regardless of the gender of the fetus or its polymorphic status. In this review, we present an overview of the development of noninvasive prenatal diagnosis through epigenetics. We introduce the basis of how fetal DNA could be detected from a large background of maternal DNA in maternal plasma based on fetal-specific DNA methylation patterns. We evaluate the methodologies involved and discuss the factors that affect the robustness of the detection. We review the progress in adopting fetal epigenetic markers for noninvasive prenatal assessment of fetal chromosomal aneuploidies and pregnancy-associated disorders. We conclude with comments on the future directions regarding the search for new fetal epigenetic markers and the clinical implementation of epigenetic approaches for noninvasive prenatal diagnosis.
Authors:
Dana Wy Tsui; Rossa Wk Chiu; Ym Dennis Lo
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Publication Detail:
Type:  JOURNAL ARTICLE    
Journal Detail:
Title:  Chimerism (Print)     Volume:  1     ISSN:  1938-1964     ISO Abbreviation:  -     Publication Date:  2010 7 
Date Detail:
Created Date:  2011-2-17     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101540510     Medline TA:  Chimerism     Country:  -    
Other Details:
Languages:  ENG     Pagination:  30-35     Citation Subset:  -    
Affiliation:
The Centre for Research into Circulating Fetal Nucleic Acids; Li Ka Shing Institute of Health Sciences; and Department of Chemical Pathology; The Chinese University of Hong Kong; Shatin, Hong Kong SAR China.
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