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Genes 2014, 5(2), 310-329; doi:10.3390/genes5020310
Review

The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis

1,2
, 1,2
, 1
, 2
 and 2,*
1 NIPD Genetics Ltd., Neas Engomis 31, Engomi, Nicosia 2409, Cyprus 2 The Cyprus Institute of Neurology and Genetics, 6 International Airport Avenue, Ayios Dometios, Nicosia 2370, Cyprus
* Author to whom correspondence should be addressed.
Received: 17 December 2013 / Revised: 5 March 2014 / Accepted: 27 March 2014 / Published: 9 April 2014
(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
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Abstract

Epigenetic modifications have proven to play a significant role in cancer development, as well as fetal development. Taking advantage of the knowledge acquired during the last decade, great interest has been shown worldwide in deciphering the fetal epigenome towards the development of methylation-based non-invasive prenatal tests (NIPT). In this review, we highlight the different approaches implemented, such as sodium bisulfite conversion, restriction enzyme digestion and methylated DNA immunoprecipitation, for the identification of differentially methylated regions (DMRs) between free fetal DNA found in maternal blood and DNA from maternal blood cells. Furthermore, we evaluate the use of selected DMRs identified towards the development of NIPT for fetal chromosomal aneuploidies. In addition, we perform a comparison analysis, evaluate the performance of each assay and provide a comprehensive discussion on the potential use of different methylation-based technologies in retrieving the fetal methylome, with the aim of further expanding the development of NIPT assays.
Keywords: non-invasive prenatal diagnosis; epigenetic modifications; free fetal DNA; maternal circulation; chromosomal aneuploidies non-invasive prenatal diagnosis; epigenetic modifications; free fetal DNA; maternal circulation; chromosomal aneuploidies
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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MDPI and ACS Style

Papageorgiou, E.A.; Koumbaris, G.; Kypri, E.; Hadjidaniel, M.; Patsalis, P.C. The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis. Genes 2014, 5, 310-329.

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