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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 -
Detection of trisomy 21 by quantitative mass spectrometric analysis of single-nucleotide polymorphisms.
Tsui NB, Chiu RW, Ding C, El-Sheikhah A, Leung TN, Lau TK, Nicolaides KH, Lo YM.
Clin Chem 2005;51:2358-62. -
Comparison of protocols for extracting circulating DNA and RNA from maternal plasma.
Chiu RW, Lui WB, El-Sheikhah A, Chan AT, Lau TK, Nicolaides KH, Lo YM.
Clin Chem 2005;51:2209-10.