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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April 2009
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Conference Article|
March 20 2009
The SAFE project: towards non-invasive prenatal diagnosis
Deborah G. Maddocks
;
Deborah G. Maddocks
1
*Centre for Research in Biomedicine, Faculty of Health and Life Sciences, University of the West of England, Bristol BS16 1QY, U.K.
1To whom correspondence should be addressed (email debbie.maddocks@uwe.ac.uk).
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Medhat S. Alberry
;
Medhat S. Alberry
‡Ain-Shams University, Abbassia 11566, Cairo, Egypt
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George Attilakos
;
George Attilakos
†Department of Obstetrics and Gynaecology, University of Bristol, St Michael's Hospital, Southwell Street, Bristol BS2 8EG, U.K.
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Tracey E. Madgett
;
Tracey E. Madgett
*Centre for Research in Biomedicine, Faculty of Health and Life Sciences, University of the West of England, Bristol BS16 1QY, U.K.
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Kin Choi
;
Kin Choi
†Department of Obstetrics and Gynaecology, University of Bristol, St Michael's Hospital, Southwell Street, Bristol BS2 8EG, U.K.
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Peter W. Soothill
;
Peter W. Soothill
†Department of Obstetrics and Gynaecology, University of Bristol, St Michael's Hospital, Southwell Street, Bristol BS2 8EG, U.K.
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Neil D. Avent
Neil D. Avent
*Centre for Research in Biomedicine, Faculty of Health and Life Sciences, University of the West of England, Bristol BS16 1QY, U.K.
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Biochem Soc Trans (2009) 37 (2): 460–465.
Article history
Received:
October 27 2008
Citation
Deborah G. Maddocks, Medhat S. Alberry, George Attilakos, Tracey E. Madgett, Kin Choi, Peter W. Soothill, Neil D. Avent; The SAFE project: towards non-invasive prenatal diagnosis. Biochem Soc Trans 1 April 2009; 37 (2): 460–465. doi: https://doi.org/10.1042/BST0370460
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