Noninvasive prenatal testing beyond genomic analysis: what the future holds
Publication in refereed journal


香港中文大学研究人员 ( 现职)

赵慧君教授 (化学病理学系)

全文

数位物件识别号 (DOI) http://dx.doi.org/10.1097/GCO.0000000000000252

引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/0WOS source URL

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摘要Purpose of reviewThe discovery of cell-free fetal DNA in maternal blood enabled the development of DNA-based noninvasive prenatal testing. Noninvasive prenatal testing for chromosomal aneuploidy detection was first applied for clinical use a few years ago, resulting in a paradigm shift in prenatal testing. Apart from the use of cell-free fetal nucleic acids for the detection of fetal genetic or chromosomal diseases, we predict that the analysis of cell-free placental RNA and DNA methylation signatures would allow the noninvasive monitoring of placental function. These developments would potentially allow the screening and identification of a range of pregnancy-associated diseases, providing a holistic approach to prenatal management.Recent findingsThis article covers the advancement of techniques in measuring cell-free fetal RNA and fetal-specific methylation patterns in maternal blood. Recently, genome-wide fetal transcriptome and methylome can be obtained from maternal plasma, which allow the identification of novel biomarkers and the elucidation of the pathogenesis of maternal and fetal diseases. In fact, some studies demonstrated the feasibility of applying the RNA and DNA methylation analysis techniques for prenatal disease assessment.SummaryThis study reviews the evidence that demonstrates the potential utilities of cell-free fetal transcriptomic and methylomic analysis for the future assessment of pregnancy-associated disorders.

着者Hui WWI, Chiu RWK
期刊名称Current Opinion in Obstetrics and Gynecology
详细描述Noninvasive prenatal testing beyond genomic analysis: what the future holds.
出版年份2http://aims.cuhk.edu.hk/converis/portal/Publication/016
月份4
日期1
卷号28
期次2
出版社LIPPINCOTT WILLIAMS & WILKINS
页次1http://aims.cuhk.edu.hk/converis/portal/Publication/05 - 11http://aims.cuhk.edu.hk/converis/portal/Publication/0
国际标準期刊号1http://aims.cuhk.edu.hk/converis/portal/Publication/04http://aims.cuhk.edu.hk/converis/portal/Publication/0-872X
电子国际标準期刊号1473-656X
语言英式英语

关键词DNA methylation; noninvasive prenatal testing; pregnancy-associated disorders; RNA
Web of Science 学科类别Obstetrics & Gynecology