Comparison of next generation sequencing-based and methylated DNA immunoprecipitation-based approaches for fetal aneuploidy non-invasive prenatal testing

作     者：Georgia Christopoulou Elisavet A Papageorgiou Philippos C Patsalis Voula Velissariou 

作者机构：Alfa Lab Cytogenetics and Molecular Biology CenterHygeia Group NIPD Genetics Ltd. the Cyprus Institute of Neurology and Genetics Ministry of Health Government Office 

出 版 物：《World Journal of Medical Genetics》 (世界医学遗传学杂志)

年 卷 期：2015年第5卷第2期

页      面：23-27页

学科分类：12[管理学] 1204[管理学-公共管理] 120402[管理学-社会医学与卫生事业管理(可授管理学、医学学位)] 1004[医学-公共卫生与预防医学(可授医学、理学学位)] 10[医学] 

主　　题：Next generation sequencing Differential methylation Epigenetics Fetal aneuploidy Methylation dependent immunoprecipitation Non-invasive prenatal testing 

摘      要：Over the past few years, many researchers have attempted to develop non-invasive prenatal testing methods in order to investigate the genetic status of the fetus. The aim is to avoid invasive procedures such as chorionic villus and amniotic fluid sampling, which result in a significant risk for pregnancy loss. The discovery of cell free fetal DNA circulating in the maternal blood has great potential for the development of non-invasive prenatal testing(NIPT) methodologies. Such strategies have been successfully applied for the determination of the fetal rhesus status and inherited monogenic disease but the field of fetal aneuploidy investigation seems to be more challenging. The main reason for this is that the maternal cell free DNA in the mother s plasma is far more abundant, and because it is identical to half of the corresponding fetal DNA. Approaches developed are mainly based on next generation sequencing(NGS) technologies and epigenetic genetic modifications, such as fetal-maternal DNA differential methylation. At present, genetic services for non-invasive fetal aneuploidy detection are offered using NGS-based approaches but, for reasons that are presented herein, they still serve as screening tests which are not readily accessed by the majority of couples. Here we discuss the limitations of both strategies for NIPT and the future potential of the methods developed.