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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 -
First-trimester combined screening for trisomy 21 at 8-13 weeks.
Wright D, Spencer K, Kagan K, Tørring N, Petersen O, Christou A, Kallikas J, Nicolaides K.
Ultrasound Obstet Gynecol 2010;36:404-11. -
Synergy of Total PLAC4 RNA concentration and measurement of the RNA single-nucleotide polymorphism allelic ratio for the noninvasive prenatal detection of Trisomy 21.
Tsui NB, Akolekar R, Chiu RW, Chow KC, Leung TY, Lau TK, Nicolaides KH, Lo YM.
Clin Chem 2010;56:73-81. -
Epigenetic-genetic chromosome dosage approach for fetal trisomy 21 detection using an autosomal genetic reference marker.
Tong YK, Chiu RW, Akolekar R, Leung TY, Lau TK, Nicolaides KH, Lo YM.
PLoS One 2010;5:e15244. -
Early vaginal bleeding has no impact on markers used in first trimester aneuploidy screening.
Spencer K, Spencer CE, Stamatopoulou A, Staboulidou I, Nicolaides KH.
Prenat Diagn 2010;30:547-50. -
First trimester aneuploidy screening in the presence of a vanishing twin: implications for maternal serum markers.
Spencer K, Staboulidou I, Nicolaides KH.
Prenat Diagn 2010;30:235-40. -
Additional first-trimester ultrasound markers.
Sonek J, Nicolaides K.
Clin Lab Med 2010;30:573-92. -
Outcome of pregnancies with trisomy 2 cells in chorionic villi.
Sifakis S, Staboulidou I, Maiz N, Velissariou V, Nicolaides KH.
Prenat Diagn 2010;30:329-32. -
Maternal serum human placental growth hormone at 11 to 13 weeks in trisomy 21 and trisomy 18 pregnancies.
Sifakis S, Akolekar R, Syngelaki A, Cruz JJ, Nicolaides KH.
Prenat Diagn 2010;30:212-5. -
Nasal bone length in euploid fetuses at 16-24 weeks of gestation by three-dimensional ultrasound.
Persico N, Molina F, Borenstein M, Azumendi G, Nicolaides KH.
Ultrasound Obstet Gynecol 2010;36:285-90. -
Semi-automated system for the measurement of nuchal translucency thickness.
Moratalla J, Pintoffl K, Minekawa R, Lachmann R, Wright D, Nicolaides K.
Ultrasound Obstet Gynecol 2010;36:412-6. -
Ductus venosus in the first trimester: contribution to screening of chromosomal, cardiac defects and monochorionic twin complications.
Maiz N, Nicolaides KH.
Fetal Diagn Ther 2010;28:65-71. -
The 11-13-week scan: diagnosis and outcome of holoprosencephaly, exomphalos and megacystis.
Kagan KO, Staboulidou I, Syngelaki A, Cruz JJ, Nicolaides KH.
Ultrasound Obstet Gynecol 2010;36:10-4. -
Two-stage first-trimester screening for trisomy 21 by ultrasound assessment and biochemical testing.
Kagan K, Staboulidou I, Cruz JJ, Wright D, Nicolaides K.
Ultrasound Obstet Gynecol 2010;36:542-7. -
Isolated single umbilical artery and fetal karyotype.
Dagklis T, Defigueiredo D, Staboulidou I, Casagrandi D, Nicolaides KH.
Ultrasound Obstet Gynecol 2010;36:291-5. -
Effect of temperature on the measurement of free beta-hCG and PAPP-A concentration.
Cruz JJ, Cruz G, Minekawa R, Maiz N, Nicolaides KH.
Ultrasound Obstet Gynecol 2010;36:141-6.