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Genome-wide cfDNA testing of maternal blood.
Jani JC, Gil MM, Benachi A, Prefumo F, Kagan KO, Tabor A, Bilardo CM, Di Renzo GC, Nicolaides KH.
Ultrasound Obstet Gynecol 2020;55:13-14. pdf -
Screening for trisomies by cfDNA testing of maternal blood in twin pregnancy: update of The Fetal Medicine Foundation results and meta-analysis.
Gil MM, Galeva S, Jani J, Konstantinidou L, Akolekar R, Plana MN, Nicolaides KH.
Ultrasound Obstet Gynecol 2019;53:734-742. pdf -
Routine first-trimester screening for fetal trisomies in twin pregnancy: cell-free DNA test contingent on results from combined test.
Galeva S, Konstantinidou L, Gil MM, Akolekar R, Nicolaides KH.
Ultrasound Obstet Gynecol 2019;53:208-213. pdf -
First-trimester screening for trisomies by cfDNA testing of maternal blood in singleton and twin pregnancies: factors affecting test failure.
Galeva S, Gil MM, Konstantinidou L, Akolekar R, Nicolaides KH.
Ultrasound Obstet Gynecol 2019;53:804-809. pdf -
Clinical validation of a novel automated cell-free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma.
Ericsson O, Ahola T, Dahl F, Karlsson F, Persson F, Karlberg O, Roos F, Alftrén I, Andersson B, Barkenäs E, Boghos A, Brandner B, Dahlberg J, Forsgren PO, Francois N, Gousseva A, Hakamali F, Janfalk-Carlsson Å, Johansson H, Lundgren J, Mohsenchian A, Olausson L, Olofsson S, Qureshi A, Skarpås B, Svahn P, Sävneby A, Åström E, Sahlberg A, Fianu-Jonasson A, Gautier J, Costa JM, Jacobsson B, Nicolaides K.
Prenat Diagn 2019;39:1011-1015. pdf -
Targeted cell-free DNA analysis with microarray quantitation for assessment of fetal sex and sex chromosome aneuploidy risk.
Jones KJ, Wang E, Bogard P, White K, Schmid M, Stokowski R, Nicolaides KH.
Ultrasound Obstet Gynecol 2018;51:275-276. pdf -
Imaging single DNA molecules for high precision NIPT.
Dahl F, Ericsson O, Karlberg O, Karlsson F, Howell M, Persson F, Roos F, Stenberg J, Ahola T, Alftrén I, Andersson B, Barkenäs E, Brandner B, Dahlberg J, Elfman S, Eriksson M, Forsgren PO, Francois N, Gousseva A, Hakamali F, Janfalk-Carlsson Å, Johansson H, Lundgren J, Mohsenchian A, Olausson L, Olofsson S, Qureshi A, Skarpås B, Sävneby A, Åström E, Öhman O, Westgren M, Kopp-Kallner H, Fianu-Jonasson A, Syngelaki A, Nicolaides K.
Sci Rep 2018;;8:4549. pdf -
Performance of the neoBona test: a new paired-end massively parallel shotgun sequencing approach for cell-free DNA-based aneuploidy screening.
Cirigliano V, Ordonez E, Rueda L, Syngelaki A, Nicolaides KH.
Ultrasound Obstet Gynecol 2017;49:460-4 pdf -
Analysis of Cell-Free DNA in Maternal Blood in Screening For Aneuploidies: Updated Meta-Analysis.
Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH.
Ultrasound Obstet Gynecol DOI: 10.1002/uog.17484 pdf -
Screening for trisomies by cell-free DNA testing of maternal blood: consequences of a failed result.
Revello R, Sarno L, Ispas A, Akolekar R, Nicolaides KH.
Ultrasound Obstet Gynecol 2016;47:698-704 pdf -
IONA test for first-trimester detection of trisomies 21, 18 and 13.
Poon LC, Dumidrascu-Diris D, Francisco C, Fantasia I, Nicolaides KH.
Ultrasound Obstet Gynecol 2016;47:184-7 pdf -
Clinical implementation of routine screening for fetal trisomies in the UK NHS: cell-free DNA test contingent on results from first-trimester combined test.
Gil MM, Revello R, Poon LC, Akolekar R, Nicolaides KH.
Ultrasound Obstet Gynecol 2016;47:45-52 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 -
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 -
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