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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 trisomy 21 by biomarkers and maternal blood cell-free DNA testing.
Nicolaides KH, Wright D, Poon LC, Syngelaki A, Gil MM.
Ultrasound Obstet Gynecol 2013;42:41-50. pdf -
First-trimester contingent screening for trisomies 21, 18 and 13 by biomarkers and maternal blood cell-free DNA testing.
Nicolaides KH, Syngelaki A, Poon LC, Gil M, Wright D.
Fetal Diagn Ther 2014;35:185-92. pdf -
A model for a new pyramid of prenatal care based on the 11 to 13 weeks' assessment.
Nicolaides KH.
Prenat Diagn 2011;31:3-6.