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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 -
Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight.
Demetriou C, Abu-Amero S, Thomas AC, Ishida M, Aggarwal R, Al-Olabi L, Leon LJ, Stafford JL, Syngelaki A, Peebles D, Nicolaides KH, Regan L, Stanier P, Moore GE.
PLoS One 2014;9:e85454. 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 -
Clinical perspective of cell-free DNA testing for fetal aneuploidies.
Gratacos E, Nicolaides KH.
Fetal Diagn Ther 2014;35:151-5. 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 -
Prenatal detection of fetal triploidy from cell-free DNA testing in maternal blood.
Nicolaides KH, Syngelaki A, Del Mar Gil M, Soledad Quezada M, Zinevich Y.
Fetal Diagn Ther 2014;35:212-7. pdf -
Fetal fraction estimate in twin pregnancies using directed cell-free DNA analysis.
Struble CA, Syngelaki A, Oliphant A, Song K, Nicolaides KH.
Fetal Diagn Ther 2014;35:199-203. 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