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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. -
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. -
First-trimester ultrasound screening for chromosomal defects.
Snijders RJ, Johnson S, Sebire NJ, Noble PL, Nicolaides KH.
Ultrasound Obstet Gynecol 1996;7:216-26. -
Fetal karyotyping in twin pregnancies: selection of technique by measurement of fetal nuchal translucency.
Sebire NJ, Noble PL, Psarra A, Papapanagiotou G, Nicolaides KH.
BJOG 1996;103:887-90. -
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. -
Comparison of chorion villus sampling and early amniocentesis for karyotyping in 1,492 singleton pregnancies.
Nicolaides KH, Brizot ML, Patel F, Snijders R.
Fetal Diagn Ther 1996;11:9-15. -
Total amount of circulating human chorionic gonadotrophin alpha and beta subunits in first trimester trisomies 21 and 18.
Jauniaux E, Nicolaides KH, Nagy AM, Brizot M, Meuris S.
J Endocrinol 1996;148:27-31. -
Fetal heart rate and umbilico-placental Doppler flow velocity waveforms in early pregnancies with a chromosomal abnormality and/or an increased nuchal translucency thickness.
Jauniaux E, Gavrill P, Kuhn P, Kurdi W, Hyett J, Nicolaides KH.
Hum Reprod 1996;11:435-9. -
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 heart rate in trisomy 21 and other chromosomal abnormalities at 10-14 weeks of gestation.
Hyett JA, Noble PL, Snijders RJ, Montenegro N, Nicolaides KH.
Ultrasound Obstet Gynecol 1996;7:239-44. -
Fetal hepatic alpha-fetoprotein mRNA expression in fetuses with trisomy 21 and 18 at 12-15 weeks gestation.
Brizot ML, Mckie AT, von-Kaisenberg CS, Farzaneh F, Nicolaides KH.
Early Hum Dev 1996;44:155-9. -
Gene expression of human pregnancy-associated plasma protein-A in placenta from trisomic pregnancies.
Brizot ML, Hyett JA, Mckie AT, Bersinger NA, Farzaneh F, Nicolaides KH.
Placenta 1996;17:33-6. -
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.