Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Med Genet. May 27, 2015; 5(2): 23-27
Published online May 27, 2015. doi: 10.5496/wjmg.v5.i2.23
Comparison of next generation sequencing-based and methylated DNA immunoprecipitation-based approaches for fetal aneuploidy non-invasive prenatal testing
Georgia Christopoulou, Elisavet A Papageorgiou, Philippos C Patsalis, Voula Velissariou
Georgia Christopoulou, Voula Velissariou, AlfaLab Cytogenetics and Molecular Biology Center, Hygeia Group, 115 24 Athens, Greece
Elisavet A Papageorgiou, NIPD Genetics Ltd., the Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus
Philippos C Patsalis, Ministry of Health, Government Office, Prodromou, 1448 Nicosia, Cyprus
Author contributions: All authors designed the structure and content of the manuscript; Christopoulou G wrote the manuscript; Papageorgiou EA and Velissariou V revised the manuscript; Patsalis PC and Velissariou V made the final revisions; all authors have read and approved the final manuscript.
Conflict-of-interest: Elisavet A Papageorgiou is currently employed by and owns shares of NΙPD Genetics. Philippos C Patsalis also owns shares of ΝΙPD Genetics. Elisavet A Papageorgiou and Philippos C Patsalis have filed a PCT patent application for the MeDΙP real time qPCR based NΙPD approach (PCT Patent Αpplication No.PCT/1B2011/Ο00217). Vοu1a Velissariou and Georgia Christopoulοu declare that they have no conflict of interest.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Correspondence to: Voula Velissariou, PhD, Head of Cytogenetics, AlfaLab Cytogenetics and Molecular Biology Center, Hygeia Group, Anastassiou Str., 115 24 Athens, Greece.
Telephone: +30-210-6902096 Fax: +30-210-6902083
Received: January 24, 2015
Peer-review started: January 27, 2015
First decision: March 15, 2015
Revised: April 7, 2015
Accepted: April 16, 2015
Article in press: April 20, 2015
Published online: May 27, 2015
Core Tip

Core tip: Non-invasive prenatal screening and diagnosis of fetal aneuploidies has been a challenging field for many researchers. Different methodologies have been developed, mainly based on next-generation sequencing and epigenetic modifications. At present, non-invasive prenatal testing services are offered using next generation sequencing-based technologies which have great potential, but currently they present with certain limitations. Epigenetic approaches may overcome some of these limitations and seem to have promising potential for wider applications.