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Noninvasive approaches to prenatal diagnosis of hemoglobinopathies using fetal DNA in maternal plasma.
MedLine Citation:
PMID:  21075287     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
Fetal DNA is present in the plasma of pregnant women and can be used for noninvasive prenatal diagnosis. Early work had focused on the detection of paternally inherited fetal mutations in maternal plasma. Recent advances in single-molecule counting approaches have allowed the mutation dosage of the fetus to be analyzed in maternal plasma. These developments have been demonstrated as feasible for noninvasive prenatal diagnosis of several hemoglobinopathies, including β-thalassemia and hemoglobin E disease.
Authors:
Y M Dennis Lo; Rossa W K Chiu
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-09-29
Journal Detail:
Title:  Hematology/oncology clinics of North America     Volume:  24     ISSN:  1558-1977     ISO Abbreviation:  Hematol. Oncol. Clin. North Am.     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2010-11-15     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8709473     Medline TA:  Hematol Oncol Clin North Am     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1179-86     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Elsevier Inc. All rights reserved.
Affiliation:
Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, 30-32 Ngan Shing Street, Shatin, New Territories, Hong Kong SAR, China. loym@cuhk.edu.hk
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