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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 -
Some thoughts on the true value of ultrasound.
Nicolaides KH.
Ultrasound Obstet Gynecol 2007;30:671-4. -
Pathophysiology of increased nuchal translucency in chromosomally abnormal fetuses.
von Kaisenberg CS, Brand-Saberi B, Jonat W, Nicolaides KH.
Der Gynäkologe 1999;32:193-199. -
A screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A.
Spencer K, Souter V, Tul N, Snijders R, Nicolaides KH.
Ultrasound Obstet Gynecol 1999;13:231-7. -
International, collaborative assessment of 146,000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used.
Evans MI, Henry GP, Miller WA, Bui TH, Snidjers RJ, Wapner RJ, Miny P, Johnson MP, Peakman D, Johnson A, Nicolaides K, Holzgreve W, Ebrahim SA, Babu R, Jackson L.
Hum Reprod 1999;14:1213-6. -
First trimester umbilical venous Doppler sonography in chromosomally normal and abnormal fetuses.
Brown RN, Di Luzio L, Gomes C, Nicolaides KH.
J Ultrasound Med 1999;18:543-6. -
Investigation of maternal blood enriched for fetal cells: role in screening and diagnosis of fetal trisomies.
Al-Mufti R, Hambley H, Farzaneh F, Nicolaides KH.
Am J Med Genet 1999;2;85:66-75.