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

Genes

Elisavet A. Papageorgiou¹  George Koumbaris¹  Elena Kypri¹  Michael Hadjidaniel² 

[1] NIPD Genetics Ltd., Neas Engomis 31, Engomi, Nicosia 2409, Cyprus; E-Mails:;The Cyprus Institute of Neurology and Genetics, 6 International Airport Avenue, Ayios Dometios, Nicosia 2370, Cyprus; E-Mail:

关键词: non-invasive prenatal diagnosis;    epigenetic modifications;    free fetal DNA;    maternal circulation;    chromosomal aneuploidies;   

DOI  :  10.3390/genes5020310

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2014 by the authors; licensee MDPI, Basel, Switzerland.