Correlation between Z score, fetal fraction, and sequencing reads in non-invasive prenatal testing

被引：8

作者：

Balslev-Harder, Marie ^{[1
]}

Richter, Stine R. ^{[1
]}

Kjaergaard, Susanne ^{[1
]}

Johansen, Peter ^{[1
]}

机构：

[1] Rigshosp, Copenhagen Univ Hosp, Dept Clin Genet, Chromosome Lab, Copenhagen, Denmark

来源：

PRENATAL DIAGNOSIS | 2017年 / 37卷 / 09期

关键词：

CELL-FREE DNA; MATERNAL PLASMA; PERFORMANCE;

D O I：

10.1002/pd.5116

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：943 / 945

页数：3

共 9 条

[1] Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma [J].

Benn, Peter ;

Cuckle, Howard .

PRENATAL DIAGNOSIS, 2014, 34 (08) :778-783

[2]

Ekelund CK, 2008, BMJ-BRIT MED J, V337, DOI 10.1136/bmj.a2547

[3] Sensitivity of Noninvasive Prenatal Detection of Fetal Aneuploidy from Maternal Plasma Using Shotgun Sequencing Is Limited Only by Counting Statistics [J].

Fan, H. Christina ;

Quake, Stephen R. .

PLOS ONE, 2010, 5 (05)

[4] The importance of determining the limit of detection of non-invasive prenatal testing methods [J].

Fiorentino, Francesco ;

Bono, Sara ;

Pizzuti, Francesca ;

Mariano, Martina ;

Polverari, Arianna ;

Duca, Sara ;

Sessa, Mariateresa ;

Baldi, Marina ;

Diano, Laura ;

Spinella, Francesca .

PRENATAL DIAGNOSIS, 2016, 36 (04) :304-311

[5] Open source non-invasive prenatal testing platform and its performance in a public health laboratory [J].

Johansen, Peter ;

Richter, Stine R. ;

Balslev-Harder, Marie ;

Miltoft, Caroline B. ;

Tabor, Ann ;

Duno, Morten ;

Kjaergaard, Susanne .

PRENATAL DIAGNOSIS, 2016, 36 (06) :530-536

[6] Determination of fetal DNA fraction from the plasma of pregnant women using sequence read counts [J].

Kim, Sung K. ;

Hannum, Gregory ;

Geis, Jennifer ;

Tynan, John ;

Hogg, Grant ;

Zhao, Chen ;

Jensen, Taylor J. ;

Mazloom, Amin R. ;

Oeth, Paul ;

Ehrich, Mathias ;

van den Boom, Dirk ;

Deciu, Cosmin .

PRENATAL DIAGNOSIS, 2015, 35 (08) :810-815

[7] WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme [J].

Straver, Roy ;

Sistermans, Erik A. ;

Holstege, Henne ;

Visser, Allerdien ;

Oudejans, Cees B. M. ;

Reinders, Marcel J. T. .

NUCLEIC ACIDS RESEARCH, 2014, 42 (05) :e31

[8] Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma [J].

Wang, Eric ;

Batey, Annette ;

Struble, Craig ;

Musci, Thomas ;

Song, Ken ;

Oliphant, Arnold .

PRENATAL DIAGNOSIS, 2013, 33 (07) :662-666

[9] A Method to Quantify Cell-Free Fetal DNA Fraction in Maternal Plasma Using Next Generation Sequencing: Its Application in Non-Invasive Prenatal Chromosomal Aneuploidy Detection [J].

Xu, Xu-Ping ;

Gan, Hai-Yan ;

Li, Fen-Xia ;

Tian, Qi ;

Zhang, Jun ;

Liang, Rong-Liang ;

Li, Ming ;

Yang, Xue-Xi ;

Wu, Ying-Song .

PLOS ONE, 2016, 11 (01)

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