Post-genomics studies and their application to non-invasive prenatal diagnosis

Avent, N. D., Plummer, Z. E., Madgett, T. E., Maddocks, D. G. and Soothill, P. W. (2008) Post-genomics studies and their application to non-invasive prenatal diagnosis. Seminars in Fetal and Neonatal Medicine, 13 (2). pp. 91-98. ISSN 1744-165X Available from:

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Non-invasive prenatal diagnosis (NIPD) offers the opportunity to eliminate completely the risky procedures of amniocentesis and chorionic villus sampling. The development of NIPD tests has largely centred around the isolation and analysis of fetal cells in the maternal circulation and the analysis of free fetal DNA in maternal plasma. Both of these techniques offer difficult technical challenges, and at the current moment in time the use of free fetal DNA is the simplest and most effective method of defining paternally inherited fetal genes for diagnosis. Post-genomics technologies that explore the proteins (proteomics) and transcripts (transcriptomics) released by the placenta into the maternal circulation offer new opportunities to identify genes and their protein products that are key diagnostic markers of disease (in particular Down syndrome), and might replace the current screening markers in use for prediction of risk of Down syndrome. In the ideal situation, these markers are sufficiently diagnostic not to require invasive sampling of fetal genetic material. Post-genomics techniques might also offer better opportunities for defining fetal cell-specific markers that might enhance their isolation from maternal blood samples. This review describes progress in these studies, particularly those funded by the Special Non-invasive Advances in Fetal and Neonatal Evaluation (SAFE) Network of Excellence.

Item Type:Article
Uncontrolled Keywords:biomarkers, fetal cells, free fetal RNA (ffRNA), non-invasive prenatal diagnosis (NIPD), proteomics, transcriptomics
Faculty/Department:Faculty of Health and Applied Sciences
ID Code:7149
Deposited By: H. Hammond
Deposited On:16 Jul 2010 07:44
Last Modified:02 Dec 2016 13:13

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