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

Avent, Neil D.; Plummer, Zoe E.; Madgett, Tracey E.; Maddocks, Deborah G.; Soothill, Peter W.

Authors

Neil D. Avent

Zoe E. Plummer

Tracey E. Madgett

Deborah G. Maddocks

Peter W. Soothill



Abstract

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. © 2008.

Citation

Avent, N. D., Plummer, Z. E., Madgett, T. E., Maddocks, D. G., & Soothill, P. W. (2008). Post-genomics studies and their application to non-invasive prenatal diagnosis. Seminars in Fetal and Neonatal Medicine, 13(2), 91-98. https://doi.org/10.1016/j.siny.2007.12.011

Journal Article Type Article
Publication Date Apr 1, 2008
Journal Seminars in Fetal and Neonatal Medicine
Print ISSN 1744-165X
Publisher Elsevier
Peer Reviewed Peer Reviewed
Volume 13
Issue 2
Pages 91-98
DOI https://doi.org/10.1016/j.siny.2007.12.011
Keywords biomarkers, fetal cells, free fetal RNA (ffRNA), non-invasive prenatal diagnosis (NIPD), proteomics, transcriptomics
Public URL https://uwe-repository.worktribe.com/output/1016766
Publisher URL http://dx.doi.org/10.1016/j.siny.2007.12.011


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