The fragmentation patterns of maternal plasma cell-free DNA and its applications in non-invasive prenatal testing.

Prenatal Diagnosis
Min PanQinyu Ge

Abstract

The discovery of cell-free DNA (cfDNA) in maternal plasma has opened up new promises for the development of non-invasive prenatal testing (NIPT). Application of cfDNA in NIPT of fetus diseases and abnormalities is restricted by the low amount of fetal DNA molecules in maternal plasma. Fetus-derived cfDNA in maternal plasma are shorter than maternal DNA, thus leveraging the maternal and fetus-derived cfDNA molecules size difference has become a novel and more accurate method for NIPT. However, multiple biological properties such as size distribution of plasma DNA, proportion of fetal-derived DNA and methylation levels in maternal plasma across different gestational ages still remain largely unknown. Further insights into the size distribution and fragmentation pattern of circulating plasma cfDNA will shed light on the origin and fragmentation mechanisms of cfDNA during physiological and pathological processes in prenatal diseases and enhance our ability to take the advantage of plasma cfDNA as a molecular diagnostic tool. In the review, we start by summarizing the research techniques for the determination of the fragmentation profiles of cfDNA in maternal plasma. We then summarize the main progress and findings in size profiles ...Continue Reading

References

Aug 16, 1997·Lancet·Y M LoJ S Wainscoat
Nov 6, 2001·Clinica Chimica Acta; International Journal of Clinical Chemistry·M StrounP Anker
Apr 22, 2003·International Journal of Cancer. Journal International Du Cancer·Michèle Beau-FallerPierre Oudet
Jan 8, 2004·Clinical Chemistry·K C Allen ChanY M Dennis Lo
Nov 1, 2005·Proceedings of the National Academy of Sciences of the United States of America·Frank DiehlBert Vogelstein
Sep 12, 2006·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Naoyuki UmetaniDave S B Hoon
Sep 23, 2006·International Journal of Cancer. Journal International Du Cancer·Wei-Wen JiangJoseph Califano
Jul 3, 2008·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·K C Allen ChanY M Dennis Lo
Oct 8, 2008·Proceedings of the National Academy of Sciences of the United States of America·H Christina FanStephen R Quake
Nov 18, 2008·The Journal of Urology·Jörg EllingerPatrick J Bastian
Dec 17, 2008·Proceedings of the National Academy of Sciences of the United States of America·Rossa W K ChiuY M Dennis Lo
Oct 3, 2009·Clinical Chemistry·Thomas HahnCiara K O'Sullivan
Jun 19, 2010·Clinical Chemistry·H Christina FanStephen R Quake
Dec 15, 2010·Science Translational Medicine·Y M Dennis LoRossa W K Chiu
Sep 13, 2011·PloS One·Florent MouliereAlain R Thierry
Apr 24, 2012·Nature Biotechnology·Nicholas J LomanMark J Pallen
Oct 31, 2012·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·G AshoorK H Nicolaides
Apr 25, 2013·PloS One·Stephanie C Y YuRossa W K Chiu
Apr 11, 2014·Science Translational Medicine·Subhashini ChandrasekharanMegan Allyse
May 21, 2014·Proceedings of the National Academy of Sciences of the United States of America·Stephanie C Y YuY M Dennis Lo
Nov 28, 2014·Proceedings of the National Academy of Sciences of the United States of America·Rebecca W Y ChanY M Dennis Lo
Sep 24, 2015·Proceedings of the National Academy of Sciences of the United States of America·Kun SunYuk Ming Dennis Lo
Dec 20, 2015·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Azza M KamelMervat El Deftar
Jan 28, 2016·Prenatal Diagnosis·Francesco FiorentinoFrancesca Spinella
Feb 6, 2016·BJOG : an International Journal of Obstetrics and Gynaecology·Y-G ZhangW-L Li
Mar 29, 2016·Nature Biotechnology·Aaron M NewmanAsh A Alizadeh
Sep 15, 2016·BJOG : an International Journal of Obstetrics and Gynaecology·T WataganaraT Y Leung

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Oct 10, 2021·International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics·Min PanQinyu Ge

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