Abstract
The fraction of circulating cell-free fetal (cff) DNA in maternal plasma is a critical parameter for aneuploidy screening with non-invasive prenatal testing, especially for those samples located in equivocal zones. We developed an approach to quantify cff DNA fractions directly with sequencing data, and increased cff DNAs by optimizing library construction procedure. Artificial DNA mixture samples (360), with known cff DNA fractions, were used to develop a method to determine cff DNA fraction through calculating the proportion of Y chromosomal unique reads, with sequencing data generated by Ion Proton. To validate our method, we investigated cff DNA fractions of 2,063 pregnant women with fetuses who were diagnosed as high risk of fetal defects. The z-score was calculated to determine aneuploidies for chromosomes 21, 18 and 13. The relationships between z-score and parameters of pregnancies were also analyzed. To improve cff DNA fractions in our samples, two groups were established as follows: in group A, the large-size DNA fragments were removed, and in group B these were retained, during library construction. A method to determine cff DNA fractions was successfully developed using 360 artificial mixture samples in which cff DN...Continue Reading
References
Aug 16, 1997·Lancet·Y M LoJ S Wainscoat
Jan 8, 2004·Clinical Chemistry·K C Allen ChanY M Dennis Lo
Apr 9, 2008·BMJ : British Medical Journal·Kirstin FinningGeoff Daniels
Aug 16, 2008·Clinical Chemistry·Fiona M F LunY M Dennis Lo
Dec 17, 2008·Proceedings of the National Academy of Sciences of the United States of America·Rossa W K ChiuY M Dennis Lo
Jun 19, 2010·Clinical Chemistry·H Christina FanStephen R Quake
Aug 24, 2010·Clinical Chemistry·Anders O H NygrenMathias Ehrich
Nov 17, 2010·Clinical Chemistry·Gary J W LiaoY M Dennis Lo
Jan 7, 2011·Prenatal Diagnosis·Kypros H Nicolaides
Jan 13, 2011·BMJ : British Medical Journal·Rossa W K ChiuY M Dennis Lo
Jan 26, 2011·Blood·Nancy B Y TsuiY M Dennis Lo
Feb 12, 2011·American Journal of Obstetrics and Gynecology·Mathias EhrichDirk van den Boom
Oct 19, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Glenn E PalomakiJacob A Canick
Jan 28, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Glenn E PalomakiJacob A Canick
May 11, 2012·Fetal Diagnosis and Therapy·Ghalia AshoorKypros H Nicolaides
Jun 30, 2012·American Journal of Obstetrics and Gynecology·Mary E NortonKen Song
Sep 11, 2012·Bioinformatics·Peiyong JiangHao Sun
Oct 31, 2012·The Journal of Obstetrics and Gynaecology Research·Yosun Görkem ZeybekSemih Kaleli
Oct 31, 2012·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·G AshoorK H Nicolaides
Nov 3, 2012·PloS One·Nancy B Y TsuiY M Dennis Lo
Nov 22, 2012·Obstetrics and Gynecology·UNKNOWN American College of Obstetricians and Gynecologists Committee on Genetics
Apr 6, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Anthony R GreggM S Watson
Apr 23, 2013·Clinical Chemistry·Stephanie C Y YuY M Dennis Lo
Apr 26, 2013·Prenatal Diagnosis·Peter BennYuval Yaron
Feb 28, 2014·The New England Journal of Medicine·Diana W BianchiUNKNOWN CARE Study Group
Mar 4, 2014·PloS One·Irena HudecovaRossa W K Chiu
May 21, 2014·Proceedings of the National Academy of Sciences of the United States of America·Stephanie C Y YuY M Dennis Lo
Jun 4, 2014·Clinica Chimica Acta; International Journal of Clinical Chemistry·Emma Tabe Eko NibaMasafumi Matsuo
Jul 6, 2014·PloS One·Irina ManokhinaWendy P Robinson
Oct 7, 2014·Clinica Chimica Acta; International Journal of Clinical Chemistry·Xiaolin ShiCaixia Liu
Oct 8, 2014·PloS One·Ron M McCulloughJuan-Sebastian Saldivar
Oct 21, 2014·PloS One·Young Joo JeonJong Bhak
Citations
Feb 14, 2018·Molecular Reproduction and Development·Monica A StoopsTerri L Roth
Jul 26, 2018·Genetics and Molecular Biology·Carolina MalcherMaria Rita Passos-Bueno
May 24, 2019·Electrophoresis·Jinding LiuKeming Yun
May 17, 2018·Current Hypertension Reviews·Naina Kumar, Amit Kant Singh
Jan 11, 2018·Scientific Reports·Jun YeXuefan Gu
Dec 11, 2019·Prenatal Diagnosis·Lisa Hui, Diana W Bianchi
Apr 29, 2020·Vox Sanguinis·Frederik Banch ClausenMorten Hanefeld Dziegiel
Feb 25, 2017·PloS One·Giulia BreveglieriMonica Borgatti
May 30, 2020·Genes·Vera BelovaDmitriy Korostin
Jun 17, 2020·Molecular Genetics & Genomic Medicine·Yuanyuan PeiFengxiang Wei
May 11, 2018·The Journal of Obstetrics and Gynaecology Research·Cristina Martínez-PayoTirso Pérez-Medina
Dec 7, 2018·Scientific Reports·Bo LiangYi-Lei Zhao
May 11, 2018·PloS One·Valeriy KuznyetsovClifford Librach
Mar 1, 2019·Current Molecular Medicine·Nadia ShafeiSardar Sharifzadeh
Mar 28, 2019·Frontiers in Genetics·Yiyang ZhuFan Jin
Apr 13, 2019·Journal of Translational Medicine·Ping HuZhengfeng Xu