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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 uterine artery Doppler and serum pregnancy-associated plasma protein-a in preeclampsia and chromosomal defects.
Staboulidou I, Galindo A, Maiz N, Karagiannis G, Nicolaides KH.
Fetal Diagn Ther 2009;25:336-9. -
Maternal serum screening marker levels in women with a previous aneuploidy pregnancy.
Spencer K, Staboulidou I, Cruz JJ, Karagiannis G, Nicolaides KH.
Prenat Diagn 2009;29:1242-3. -
Maternal serum ADAM12 (A disintegrin and metalloprotease) in chromosomally abnormal pregnancy at 11-13 weeks.
Poon LC, Chelemen T, Minekawa R, Frisova V, Nicolaides KH.
Am J Obstet Gynecol 2009;200:508.1-6. -
Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation.
Maiz N, Valencia C, Kagan KO, Wright D, Nicolaides KH.
Ultrasound Obstet Gynecol 2009;33:512-7. -
Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation.
Kagan KO, Cicero S, Staboulidou I, Wright D, Nicolaides KH.
Ultrasound Obstet Gynecol 2009;33:259-64. -
Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11 + 0 to 13 + 6 weeks of gestation.
Kagan KO, Valencia C, Livanos P, Wright D, Nicolaides KH.
Ultrasound Obstet Gynecol 2009;33:18-22. -
The impact of fetal gender on first trimester nuchal translucency and maternal serum free beta-hCG and PAPP-A MoM in normal and trisomy 21 pregnancies.
Cowans NJ, Stamatopoulou A, Maiz N, Spencer K, Nicolaides KH.
Prenat Diagn 2009;29:578-81. -
Megacystis at 10-14 weeks of gestation: chromosomal defects and outcome according to bladder length.
Liao AW, Sebire NJ, Geerts L, Cicero S, Nicolaides KH.
Ultrasound Obstet Gynecol 2003;21:338-41. -
Cardiac expression of sarcoplasmic reticulum calcium ATPase in fetuses with trisomy 21 and trisomy 18 presenting with nuchal translucency.
von Kaisenberg CS, Huggon I, Hyett JA, Farzaneh F, Nicolaides KH.
Fetal Diagn Ther 1997:12:270-3. -
Fetal nuchal translucency thickness at 10-14 weeks gestation and congenital diaphragmatic hernia.
Sebire NJ, Snijders RJ, Davenport M, Greenough A, Nicolaides KH.
Obstet Gynecol 1997;90:943-6. -
Management of twin pregnancies with fetal trisomies.
Sebire NJ, Snijders RJM, Santiago C, Papapanagiotou G, Nicolaides KH.
BJOG 1997;104:220-2. -
Maternal serum free beta-hCG at 10 to 14 weeks of gestation in trisomic twin pregnancies.
Noble PL, Snijders RJ, Abraha HD, Sherwood RA, Nicolaides KH.
BJOG 1997;104:741-3. -
Urinary beta-core hCG: screening for aneuploidies in early pregnancy (11-14 weeks gestation)
Macintosh MC, Nicolaides KH, Noble P, Chard T, Gunn L, Illes R.
Prenat Diagn 1997;17:401-5. -
Abnormalities of the heart and great arteries in first trimester chromosomally abnormal fetuses.
Hyett J, Moscoso G, Nicolaides KH.
Am J Med Genet 1997;69:207-16. -
Fetal megacystis at 10-14 weeks of gestation.
Sebire NJ, Von Kaisenberg C, Rubio C, Nicolaides KH.
Ultrasound Obstet Gynecol 1996;8:387-90.