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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 -
Expanded conventional first trimester screening.
Carmichael JB, Liu HP, Janik D, Hallahan TW, Nicolaides KH, Krantz DA.
Prenat Diagn 2017;37:802-807. 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 2017;50:302-314. 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 -
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 -
Maternal serum alpha-fetoprotein at 12, 22 and 32 weeks' gestation in screening for pre-eclampsia.
Bredaki FE, Mataliotakis M, Wright A, Wright D, Nicolaides KH.
Ultrasound Obstet Gynecol 2016;47:466-71. 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 -
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 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 -
Serum alpha-fetoprotein in the three trimesters of pregnancy: effects of maternal characteristics and medical history.
Bredaki FE, Sciorio C, Wright A, Wright D, Nicolaides KH.
Ultrasound Obstet Gynecol 2015;46:34-41. 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