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Inverted Pyramid of Care.
Sonek JD, Kagan KO, Nicolaides KH.
Clin Lab Med 2016;36:305-17. pdf -
First Trimester Noninvasive Prenatal Diagnosis: A Computational Intelligence Approach.
Neocleous AC, Nicolaides KH, Schizas CN.
IEEE J Biomed Health Inform 2016;20:1427-38. pdf -
Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies.
Stokowski R, Wang E, White K, Batey A, Jacobsson B, Brar H, Balanarasimha M, Hollemon D, Sparks A, Nicolaides K, Musci TJ.
Prenat Diagn 2015;35:1243-6. pdf -
Screening for trisomies 21, 18 and 13 by cell-free DNA analysis of maternal blood at 10-11 weeks' gestation and the combined test at 11-13 weeks.
Quezada MS, Gil MM, Francisco C, Orosz G, Nicolaides KH.
Ultrasound Obstet Gynecol 2015;45:36-41. pdf -
First-trimester contingent screening for trisomies 21, 18 and 13 by fetal nuchal translucency and ductus venosus flow and maternal blood cell-free DNA testing.
Kagan KO, Wright D, Nicolaides KH.
Ultrasound Obstet Gynecol 2015;45:42-7. pdf -
Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis.
Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH.
Ultrasound Obstet Gynecol 2015;45:249-66. pdf -
A unified approach to risk assessment for fetal aneuploidies.
Wright D, Wright A, Nicolaides KH.
Ultrasound Obstet Gynecol 2015;45:48-54. pdf -
Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis.
Gil MM, Akolekar R, Quezada MS, Bregant B, Nicolaides KH.
Fetal Diagn Ther 2014;35:156-73. pdf -
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 -
Maternal Serum Placental Growth Factor (PlGF) Isoforms 1 and 2 at 11-13 Weeks' Gestation in Normal and Pathological Pregnancies.
Nucci M, Poon LC, Demirdjian G, Darbouret B, Nicolaides KH.
Fetal Diagn Ther 2014;36:106-16.. pdf -
Is high fetal nuchal translucency associated with submicroscopic chromosomal abnormalities on array CGH?
Huang J, Poon LC, Akolekar R, Choy KW, Leung TY, Nicolaides KH.
Ultrasound Obstet Gynecol 2014;43:620-4. . 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 -
First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing.
Wright D, Syngelaki A, Bradbury I, Akolekar R, Nicolaides KH.
Fetal Diagn Ther 2014;35:118-26. 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 -
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.