Document Detail

Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age.
MedLine Citation:
PMID:  21075065     Owner:  NLM     Status:  Publisher    
Prenatal diagnosis is an important part of obstetrics care. In the current prenatal programmes, definitive diagnosis of fetal genetic or chromosomal conditions is conducted through fetal sampling by amniocentesis or chorionic villus sampling. To obviate the risks of fetal miscarriage that are associated with the invasive sampling procedures, we have been developing non-invasive prenatal diagnostic tests based on cell-free fetal DNA analysis from maternal plasma. To date, fetal sex and rhesus D status determination by circulating fetal DNA analysis is performed clinically in many centres. Strategies for the non-invasive diagnosis of monogenic diseases have been developed. Accurate detection of fetal trisomy 21 by next-generation sequencing has been achieved. Many of the non-invasive prenatal tests could be introduced to the clinics as soon as cost-effective and high throughput protocols are developed.
Rossa W K Chiu; Y M Dennis Lo
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2010-11-11
Journal Detail:
Title:  Seminars in fetal & neonatal medicine     Volume:  -     ISSN:  1878-0946     ISO Abbreviation:  Semin Fetal Neonatal Med     Publication Date:  2010 Nov 
Date Detail:
Created Date:  2010-11-15     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101240003     Medline TA:  Semin Fetal Neonatal Med     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2010 Elsevier Ltd. All rights reserved.
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, Hong Kong SAR, China.
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