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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 -
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. -
Screening for adverse pregnancy outcome by ductus venosus Doppler at 11-13+6 weeks of gestation.
Maiz N, Valencia C, Emmanuel EE, Staboulidou I, Nicolaides KH.
Obstet Gynecol 2008;112:598-605. -
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. -
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. -
Case report: uniparental disomy 16 in association with congenital heart disease.
O'Riordan S, Greenough A, Moore GE, Bennett P, Nicolaides KH.
Prenat Diagn 1996;16:963-5. -
Cardiac gene expression of atrial natriuretic peptide and brain natriuretic peptide in trisomic fetuses.
Hyett JA, Brizot ML, Von-Kaisenberg CS, McKie AT, Farzaneh F, Nicolaides KH.
Obstet Gynecol 1996;87:506-10. -
Fetal mild hydronephrosis and chromosomal defects: relation to maternal age and gestation.
Snijders RJ, Sebire NJ, Faria M, Patel F, Nicolaides KH.
Fetal Diagn Ther 1995;10:349-55. -
Morphometric analysis of the great vessels in early fetal life.
Hyett JA, Moscoso G, Nicolaides KH.
Hum Reprod 1995;10:3045-8.