-
First-trimester contingent screening for trisomies 21, 18 and 13 by biomarkers and maternal blood cell-free DNA testing.
Nicolaides KH, Syngelaki A, Poon LC, Gil M, Wright D.
Fetal Diagn Ther 2014;35:185-92. pdf -
A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood.
Guex N, Iseli C, Syngelaki A, Deluen C, Pescia G, Nicolaides KH, Xenarios I, Conrad B.
Prenat Diagn 2013;33:707-10. pdf -
Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y.
Nicolaides KH, Syngelaki A, Gil M, Atanasova V, Markova D.
Prenat Diagn 2013;33:575-9. -
Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics.
Ashoor G, Syngelaki A, Poon LC, Rezende JC, Nicolaides KH.
Ultrasound Obstet Gynecol 2013;41:26-32. -
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population.
Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G.
Am J Obstet Gynecol 2012;207:374. -
Digital PCR for noninvasive detection of aneuploidy: power analysis equations for feasibility.
Evans MI, Wright DA, Pergament E, Cuckle HS, Nicolaides KH.
Fetal Diagn Ther 2012;31:244-7. -
Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: effect of maternal and fetal factors.
Ashoor G, Poon L, Syngelaki A, Mosimann B, Nicolaides KH.
Fetal Diagn Ther 2012;31:237-43. -
Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18.
Ashoor G, Syngelaki A, Wagner M, Birdir C, Nicolaides KH.
Am J Obstet Gynecol 2012;206:322. -
Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing.
Chen EZ, Chiu RW, Sun H, Akolekar R, Chan KC, Leung TY, Jiang P, Zheng YW, Lun FM, Chan LY, Jin Y, Go AT, Lau ET, To WW, Leung WC, Tang RY, Au-Yeung SK, Lam H, Kung YY, Zhang X, van Vugt JM, Minekawa R, Tang MH, Wang J, Oudejans CB, Lau TK, Nicolaides KH, Lo YM.
PLoS One 2011;6:21791. -
Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection.
Lo YM, Tsui NB, Chiu RW, Lau TK, Leung TN, Heung MM, Gerovassili A, Jin Y, Nicolaides KH, Cantor CR, Ding C.
Nat Med 2007;13:218-23. -
Free fetal DNA in maternal circulation: a potential prognostic marker for chromosomal abnormalities?
Gerovassili A, Garner C, Nicolaides KH, Thein SL, Rees DC.
Prenat Diagn 2007;27:104-10. -
Comparison of protocols for extracting circulating DNA and RNA from maternal plasma.
Chiu RW, Lui WB, El-Sheikhah A, Chan AT, Lau TK, Nicolaides KH, Lo YM.
Clin Chem 2005;51:2209-10. -
Evaluation of human chorionic gonadotropin beta-subunit mRNA concentrations in maternal serum in aneuploid pregnancies: A feasibility study.
Ng EK, El-Sheikhah A, Chiu RW, Chan KC, Hogg M, Bindra R, Leung TN, Lau TK, Nicolaides KH, Lo YM.
Clin Chem 2004;50:1055-7.