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Journal article

Non-invasive prenatal diagnosis of single gene disorders: how close are we?

Abstract:

Analysis of cell free fetal DNA (cffDNA) in maternal plasma provides the opportunity for reliable, timely, safe and cost-effective diagnosis of single gene disorders. The detection of certain fetal loci using cffDNA and conventional molecular analytic approaches is possible from 4 weeks gestation. To date, non-invasive first-trimester analysis for single gene disorders has been limited by assay sensitivity and specificity, due to the background maternal DNA. The anticipated ability to enrich ...

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Publication status:
Published

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Publisher copy:
10.1016/j.siny.2007.12.008

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Institution:
University of Oxford
Department:
Oxford, MSD, Pathology Dunn School
Role:
Author
Journal:
Seminars in fetal and neonatal medicine
Volume:
13
Issue:
2
Pages:
76-83
Publication date:
2008-04-05
DOI:
EISSN:
1878-0946
ISSN:
1744-165X
URN:
uuid:f62ca4be-a1af-4656-8a94-1aa5a773236b
Source identifiers:
18250
Local pid:
pubs:18250

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