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Screening for trisomy at 11-13 weeks' gestation: use of pregnancy-associated plasma protein-A, placental growth factor or both.
Mazer Zumaeta A, Wright A, Syngelaki A, Maritsa VA, Bardani E, Nicolaides KH.
Ultrasound Obstet Gynecol 2020;56:408-415. pdf -
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 -
First-trimester screening for trisomies in pregnancies with vanishing twin.
Chaveeva P, Wright A, Syngelaki A, Konstantinidou L, Wright D, Nicolaides KH.
Ultrasound Obstet Gynecol 2020;55:326-331. pdf -
Subarachnoid space diameter in chromosomally abnormal fetuses at 11-13 weeks' gestation.
Ferreira C, Rouxinol-Dias AL, Loureiro T, Nicolaides K.
J Matern Fetal Neonatal Med 2019;32:2079-2083. 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 -
Fetal aneuploidy diagnosed at celocentesis for early prenatal diagnosis of congenital hemoglobinopathies.
Giambona A, Leto F, Passarello C, Vinciguerra M, Cigna V, Schillaci G, Picciotto F, Lauricella S, Nicolaides KH, Makrydimas G, Damiani G, Maggio A.
Acta Obstet Gynecol Scand 2018;97:312-321. pdf -
Intelligent Non-invasive Diagnosis of Aneuploidy: Raw Values and Highly Imbalanced Dataset.
Neocleous A, Nicolaides K, Schizas C.
IEEE J Biomed Health Inform 2017;21:1271-1279. 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 -
Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities.
Syngelaki A, Guerra L, Ceccacci I, Efeturk T, Nicolaides KH.
Ultrasound Obstet Gynecol 2017;50:45-48. pdf -
Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13.
Santorum M, Wright D, Syngelaki A, Karagioti N, Nicolaides KH.
Ultrasound Obstet Gynecol 2017;49:714-720. 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 -
Prospective first-trimester screening for trisomies by cell-free DNA testing of maternal blood in twin pregnancy.
Sarno L, Revello R, Hanson E, Akolekar R, Nicolaides KH.
Ultrasound Obstet Gynecol 2016;47:705-11. 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 -
Identifying Robertsonian Translocation Carriers by Microarray-Based DNA Analysis.
Huang S, Juneau K, Bogard PE, Davies KA, Wang ET, Kingsley CB, Struble CA, Oliphant A, Zahn JM, Nicolaides KH.
Fetal Diagn Ther 2016;40:59-62. pdf