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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 -
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 -
First-trimester contingent screening for trisomies 21, 18 and 13 by fetal nuchal translucency and ductus venosus flow and maternal blood cell-free DNA testing.
Kagan KO, Wright D, Nicolaides KH.
Ultrasound Obstet Gynecol 2015;45:42-7. 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 -
A unified approach to risk assessment for fetal aneuploidies.
Wright D, Wright A, Nicolaides KH.
Ultrasound Obstet Gynecol 2015;45:48-54. pdf -
Isolated single umbilical artery and fetal karyotype.
Dagklis T, Defigueiredo D, Staboulidou I, Casagrandi D, Nicolaides KH.
Ultrasound Obstet Gynecol 2010;36:291-5. -
Frontomaxillary facial angle at 11 + 0 to 13 + 6 weeks' gestation-reproducibility of measurements.
Plasencia W, Dagklis T, Sotiriadis A, Borenstein M, Nicolaides KH.
Ultrasound Obstet Gynecol 2006;29:18-21. -
Cystic hygromas, nuchal edema, and nuchal translucency at 11-14 weeks of gestation.
Molina FS, Avgidou K, Kagan KO, Poggi S, Nicolaides KH.
Obstet Gynecol 2006;107:678-83. -
Relation between increased fetal nuchal translucency thickness and chromosomal defects.
Kagan KO, Avgidou K, Molina FS, Gajewska K, Nicolaides KH.
Obstet Gynecol 2006;107:6-10. -
Fetal tricuspid regurgitation at the 11 + 0 to 13 + 6-week scan: association with chromosomal defects and reproducibility of the method.
Falcon O, Faiola S, Huggon I, Allan L, Nicolaides KH.
Ultrasound Obstet Gynecol 2006;27:609-12. -
Three-dimensional evaluation of mid-facial hypoplasia in fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks of gestation.
Dagklis T, Borenstein M, Peralta CF, Faro C, Nicolaides KH.
Ultrasound Obstet Gynecol 2006;28:261-5. -
Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study.
Chitty LS, Kagan KO, Molina FS, Waters JJ, Nicolaides KH.
BMJ 2006;332:452-5. -
Aneuploidy screening in a coelomic sample from a missed abortion using sequential fluorescence in situ hybridization.
Chatzimeletiou K, Makrydimas G, Nicolaides KH.
Fertil Steril 2006;85:1059. -
Hypermethylated RASSF1A in Maternal Plasma: A Universal Fetal DNA Marker that Improves the Reliability of Noninvasive Prenatal Diagnosis.
Chan KC, Ding C, Gerovassili A, Yeung SW, Chiu RW, Leung TN, Lau TK, Chim SS, Chung GT, Nicolaides KH, Lo YM.
Clin Chem 2006;52:2211-8. -
Single umbilical artery at 11-14 weeks' gestation: relation to chromosomal defects.
Rembouskos G, Cicero S, Longo D, Sacchini C, Nicolaides KH.
Ultrasound Obstet Gynecol 2003;22:567-70.