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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 -
UK NHS pilot study on cell-free DNA testing in screening for fetal trisomies: factors affecting uptake.
Gil MM, Giunta G, Macalli EA, Poon LC, Nicolaides KH.
Ultrasound Obstet Gynecol 2015;45:67-73. 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 -
Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies.
Bevilacqua E, Gil MM, Nicolaides KH, Ordonez E, Cirigliano V, Dierickx H, Willems PJ, Jani JC.
Ultrasound Obstet Gynecol 2015;45:61-6. pdf -
Maternal plasma cell-free DNA in the prediction of pre-eclampsia.
Rolnik DL, O'Gorman N, Fiolna M, van den Boom D, Nicolaides KH, Poon LC.
Ultrasound Obstet Gynecol 2015;45:106-11. pdf -
Fetal fraction of cell-free DNA in maternal plasma in the prediction of spontaneous preterm delivery.
Quezada MS, Francisco C, Dumitrascu-Biris D, Nicolaides KH, Poon LC.
Ultrasound Obstet Gynecol 2015;45:101-5. 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 -
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. -
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study.
Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC, Lun FM, 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.
BMJ 2011;342:c7401. -
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. -
Fetal RHD genotype detection from circulating cell-free fetal DNA in maternal plasma in non-sensitized RhD negative women.
Bombard AT, Akolekar R, Farkas DH, Vanagtmael AL, Aquino F, Oeth P, Nicolaides KH.
Prenat Diagn 2011;31:802-8. -
Prediction of spontaneous preterm delivery from maternal factors, obstetric history and placental perfusion and function at 11-13 weeks.
Beta J, Akolekar R, Ventura W, Syngelaki A, Nicolaides KH.
Prenat Diagn 2011;31:75-83. -
Fetal RHD Genotyping in Maternal Plasma at 11-13 Weeks of Gestation.
Akolekar R, Finning K, Kuppusamy R, Daniels G, Nicolaides KH.
Fetal Diagn Ther 2011;29:301-6.