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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 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.