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Replacing the combined test by cell-free DNA testing in screening for trisomies 21, 18 and 13: impact on the diagnosis of other chromosomal abnormalities.
Syngelaki A, Pergament E, Homfray T, Akolekar R, Nicolaides KH.
Fetal Diagn Ther 2014;35:174-84. pdf -
Clinical perspective of cell-free DNA testing for fetal aneuploidies.
Gratacos E, Nicolaides KH.
Fetal Diagn Ther 2014;35:151-5. pdf -
Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing.
Yu SC, Chan KC, Zheng YW, Jiang P, Liao GJ, Sun H, Akolekar R, Leung TY, Go AT, van Vugt JM, Minekawa R, Oudejans CB, Nicolaides KH, Chiu RW, Lo YM.
Proc Natl Acad Sci U S A 2014;111:8583-8. pdf -
Prenatal detection of fetal triploidy from cell-free DNA testing in maternal blood.
Nicolaides KH, Syngelaki A, Del Mar Gil M, Soledad Quezada M, Zinevich Y.
Fetal Diagn Ther 2014;35:212-7. pdf -
Fetal fraction estimate in twin pregnancies using directed cell-free DNA analysis.
Struble CA, Syngelaki A, Oliphant A, Song K, Nicolaides KH.
Fetal Diagn Ther 2014;35:199-203. pdf -
Cell-free DNA analysis for trisomy risk assessment in first-trimester twin pregnancies.
Gil MM, Quezada MS, Bregant B, Syngelaki A, Nicolaides KH.
Fetal Diagn Ther 2014;35:204-11. pdf -
Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis.
Nicolaides KH, Musci TJ, Struble CA, Syngelaki A, Gil MM.
Fetal Diagn Ther 2014;35:1-6. pdf -
Maternal plasma cell-free fetal and maternal DNA at 11-13 weeks' gestation: relation to fetal and maternal characteristics and pregnancy outcomes.
Poon LC, Musci T, Song K, Syngelaki A, Nicolaides KH.
Fetal Diagn Ther 2013;33:215-23. pdf -
Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies.
Gil MM, Quezada MS, Bregant B, Ferraro M, Nicolaides KH.
Ultrasound Obstet Gynecol 2013;42:34-40. pdf -
First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing.
Nicolaides KH, Wright D, Poon LC, Syngelaki A, Gil MM.
Ultrasound Obstet Gynecol 2013;42:41-50. pdf -
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. -
Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method.
Ashoor G, Syngelaki A, Wang E, Struble C, Oliphant A, Song K, Nicolaides KH.
Ultrasound Obstet Gynecol 2013;41:21-5. -
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. -
Mass spectrometric discovery and selective reaction monitoring (SRM) of putative protein biomarker candidates in first trimester trisomy 21 maternal serum.
Lopez MF, Kuppusamy R, Sarracino DA, Prakash A, Athanas M, Krastins B, Rezai T, Sutton JN, Peterman S, Nicolaides K.
J Proteome Res 2011;10:133-42.