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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 -
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 -
First-trimester ultrasound screening for chromosomal defects.
Snijders RJ, Johnson S, Sebire NJ, Noble PL, Nicolaides KH.
Ultrasound Obstet Gynecol 1996;7:216-26. -
Screening for trisomy 21 in twin pregnancies by maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation.
Sebire NJ, Snijders RJM, Hughes K, Sepulveda W, Nicolaides KH.
BJOG 1996;103:999-1003. -
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. -
Down's syndrome screeening in the UK.
Nicolaides KH, Sebire NJ, Snijders RJ, Johnson S, Reynolds TM.
Lancet 1996;347:906-7. -
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. -
Intrauterine lethality of trisomy 21 fetuses with increased nuchal translucency.
Hyett JH, Sebire NJ, Snijders RJM, Nicolaides KH.
Ultrasound Obstet Gynecol 1996;7:101-3. -
Abnormatlities of the heart and great arteries in chromosomally normal fetuses with increased nuchal translucency thickness at 11-13 weeks of gestation.
Hyett J, Moscoso G, Papapanagiotou G, Perdu M, Nicolaides KH.
Ultrasound Obstet Gynecol 1996;7:245-50.