| The SAFE project: towards non-invasive prenatal diagnosis. | |
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MedLine Citation:
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PMID: 19290882 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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After the revolutionary detection of ffDNA (free fetal DNA) in maternal circulation by real-time PCR in 1997 and advances in molecular techniques, NIPD (non-invasive prenatal diagnosis) is now a clinical reality. Non-invasive diagnosis using ffDNA has been implemented, allowing the detection of paternally inherited alleles, sex-linked conditions and some single-gene disorders and is a viable indicator of predisposition to certain obstetric complications [e.g. PET (pre-eclampsia)]. To date, the major use of ffDNA genotyping in the clinic has been for the non-invasive detection of the pregnancies that are at risk of HDFN (haemolytic disease of the fetus and newborn). This has seen numerous clinical services arising across Europe and many large-scale NIPD genotyping studies taking place using maternal plasma. Because of the interest in performing NIPD and the speed at which the research in this area was developing, the SAFE (Special Non-Invasive Advances in Fetal and Neonatal Evaluation) NoE (Network of Excellence) was founded. The SAFE project was set up to implement routine, cost-effective NIPD and neonatal screening through the creation of long-term partnerships within and beyond the European Community and has played a major role in the standardization of non-invasive RHD genotyping. Other research using ffDNA has focused on the amount of ffDNA present in the maternal circulation, with a view to pre-empting various complications of pregnancy. One of the key areas of interest in the non-invasive arena is the prenatal detection of aneuploid pregnancies, particularly Down's syndrome. Owing to the high maternal DNA background, detection of ffDNA from maternal plasma is very difficult; consequently, research in this area is now more focused on ffRNA to produce new biomarkers. |
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Authors:
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Deborah G Maddocks; Medhat S Alberry; George Attilakos; Tracey E Madgett; Kin Choi; Peter W Soothill; Neil D Avent |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Biochemical Society transactions Volume: 37 ISSN: 1470-8752 ISO Abbreviation: Biochem. Soc. Trans. Publication Date: 2009 Apr |
Date Detail:
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Created Date: 2009-03-17 Completed Date: 2009-05-11 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7506897 Medline TA: Biochem Soc Trans Country: England |
Other Details:
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Languages: eng Pagination: 460-5 Citation Subset: IM |
Affiliation:
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Centre for Research in Biomedicine, Faculty of Health and Life Sciences, University of the West of England, Bristol, UK. debbie.maddocks@uwe.ac.uk |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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DNA
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blood,
genetics* Female Fetal Diseases / genetics Genotype Humans Maternal-Fetal Exchange / genetics* Pregnancy Prenatal Diagnosis* Rh-Hr Blood-Group System Sex Determination (Genetics) |
| Chemical | |
Reg. No./Substance:
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0/Rh-Hr Blood-Group System; 9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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