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Intelligent Non-invasive Diagnosis of Aneuploidy: Raw Values and Highly Imbalanced Dataset.
Neocleous A, Nicolaides K, Schizas C.
IEEE J Biomed Health Inform 2017;21:1271-1279. pdf -
Analysis of Cell-Free DNA in Maternal Blood in Screening For Aneuploidies: Updated Meta-Analysis.
Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH.
Ultrasound Obstet Gynecol 2017;50:302-314. pdf -
Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities.
Syngelaki A, Guerra L, Ceccacci I, Efeturk T, Nicolaides KH.
Ultrasound Obstet Gynecol 2017;50:45-48. pdf -
Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13.
Santorum M, Wright D, Syngelaki A, Karagioti N, Nicolaides KH.
Ultrasound Obstet Gynecol 2017;49:714-720. pdf -
Performance of the neoBona test: a new paired-end massively parallel shotgun sequencing approach for cell-free DNA-based aneuploidy screening.
Cirigliano V, Ordonez E, Rueda L, Syngelaki A, Nicolaides KH.
Ultrasound Obstet Gynecol 2017;49:460-4. pdf -
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