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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 -
Screening at 11-13+6 weeks' gestation.
Sonek JD, Nicolaides KH, Janku P.
Ceska Gynekol 2012;77:92-104. -
Maternal serum placental growth factor in prospective screening for aneuploidies at 8-13 weeks' gestation.
Pandya P, Wright D, Syngelaki A, Akolekar R, Nicolaides KH.
Fetal Diagn Ther 2012;31:87-93. -
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. -
A mixture model of ductus venosus pulsatility index in screening for aneuploidies at 11-13 weeks' gestation.
Maiz N, Wright D, Ferreira AF, Syngelaki A, Nicolaides KH.
Fetal Diagn Ther 2012;31:221-9. -
Lateral ventricles in aneuploidies at 11-13 weeks' gestation.
Loureiro T, Ushakov F, Maiz N, Montenegro N, Nicolaides KH.
Ultrasound Obstet Gynecol 2012;40:282-7. -
Dilated fourth ventricle in fetuses with trisomy 18, trisomy 13 and triploidy at 11-13 weeks' gestation.
Loureiro T, Ferreira AF, Ushakov F, Montenegro N, Nicolaides KH.
Fetal Diagn Ther 2012;32:186-9. -
Posterior brain in fetuses with trisomy 18, trisomy 13 and triploidy at 11 to 13 weeks' gestation.
Ferreira AF, Syngelaki A, Smolin A, Vayna AM, Nicolaides KH.
Prenat Diagn 2012;13:1-5. -
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. -
Quantitative ELISAs for serum soluble LHCGR and hCG-LHCGR complex: potential diagnostics in first trimester pregnancy screening for stillbirth, down's syndrome, preterm delivery and preeclampsia.
Chambers AE, Griffin C, Naif SA, Mills I, Mills WE, Syngelaki A, Nicolaides KH, Banerjee S.
Reprod Biol Endocrinol 2012;10:113. -
Temporal effect of Afro-Caribbean race on serum pregnancy-associated plasma protein-a at 9-13 weeks' gestation in screening for aneuploidies.
Ball S, Wright D, Sodre D, Lachmann R, Nicolaides KH.
Fetal Diagn Ther 2012;31:162-9. -
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. -
Fetal exomphalos and chromosomal defects: relationship to maternal age and gestation.
Snijders RJ, Sebire NJ, Souka A, Santiago C, Nicolaides KH.
Ultrasound Obstet Gynecol 1995;6:250-5. -
Fetal exomphalos at 11 to 14 weeks of gestation.
Snijders RJ, Brizot ML, Faria M, Nicolaides KH.
J Ultrasound Med 1995;14:569-74.