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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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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