Validation of an Enhanced Version of a Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Test for Detection of Fetal Aneuploidies.
作者： Allison Ryan , Nathan Hunkapiller , Milena Banjevic , Naresh Vankayalapati , Nicole Fong
DOI: 10.1159/000442931
关键词:
摘要: Objective: To validate an updated version (Version 2) of a single-nucleotide polymorphism (SNP)-based noninvasive prenatal test (NIPT) and to determine the likelihood success when testing for fetal aneuploidies following redraw. Methods: Version 2 was analytically validated using 587 plasma samples with known genotype (184 trisomy 21, 37 18, 15 13, 9 monosomy X, 4 triploidy 338 euploid). Sensitivity, specificity no-call rate were calculated, fetal-fraction adjustment applied enable projection these values in commercial distribution. Likelihood second blood draw computed based on fraction maternal weight from first draw. Results: Validation this methodology yielded high sensitivities (≥99.4%) specificities (100%) all conditions tested observed 2.3%. The threshold sample calling reduced 2.8% fraction. redraw driven by higher initial fractions lower weights, being more significant variable. Conclusions: enhanced SNP-based NIPT method showed comparison earlier version, while maintaining sensitivity specificity.
karger.com 
sci-hub.se 参考文章(15)
Peter Benn, Antoni Borrell, Rossa W. K. Chiu, Howard Cuckle, Lorraine Dugoff, Brigitte Faas, Susan Gross, Tianhua Huang, Joann Johnson, Ron Maymon, Mary Norton, Anthony Odibo, Peter Schielen, Kevin Spencer, Dave Wright, Yuval Yaron, Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis Prenatal Diagnosis. ,vol. 35, pp. 725- 734 ,(2015) , 10.1002/PD.4608
Sebastian Larion, Steven L. Warsof, Letty Romary, Margaret Mlynarczyk, David Peleg, Alfred Z. Abuhamad, Uptake of noninvasive prenatal testing at a large academic referral center. American Journal of Obstetrics and Gynecology. ,vol. 211, ,(2014) , 10.1016/J.AJOG.2014.06.038
Kypros H. Nicolaides, Argyro Syngelaki, M.M. Gil, Maria Soledad Quezada, Yana Zinevich, Prenatal Detection of Fetal Triploidy from Cell-Free DNA Testing in Maternal Blood Fetal Diagnosis and Therapy. ,vol. 35, pp. 212- 217 ,(2014) , 10.1159/000355655
Mary E. Norton, Herb Brar, Jonathan Weiss, Ardeshir Karimi, Louise C. Laurent, Aaron B. Caughey, M. Hellen Rodriguez, John Williams, Michael E. Mitchell, Charles D. Adair, Hanmin Lee, Bo Jacobsson, Mark W. Tomlinson, Dick Oepkes, Desiree Hollemon, Andrew B. Sparks, Arnold Oliphant, Ken Song, Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18 American Journal of Obstetrics and Gynecology. ,vol. 207, pp. 137- ,(2012) , 10.1016/J.AJOG.2012.05.021
Glenn E. Palomaki, Cosmin Deciu, Edward M. Kloza, Geralyn M. Lambert-Messerlian, James E. Haddow, Louis M. Neveux, Mathias Ehrich, Dirk van den Boom, Allan T. Bombard, Wayne W. Grody, Stanley F. Nelson, Jacob A. Canick, DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study Genetics in Medicine. ,vol. 14, pp. 296- 305 ,(2012) , 10.1038/GIM.2011.73
R. Akolekar, J. Beta, G. Picciarelli, C. Ogilvie, F. D'Antonio, Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound in Obstetrics & Gynecology. ,vol. 45, pp. 16- 26 ,(2015) , 10.1002/UOG.14636
Pe'er Dar, Kirsten J. Curnow, Susan J. Gross, Megan P. Hall, Melissa Stosic, Zachary Demko, Bernhard Zimmermann, Matthew Hill, Styrmir Sigurjonsson, Allison Ryan, Milena Banjevic, Paula L. Kolacki, Susan W. Koch, Charles M. Strom, Matthew Rabinowitz, Peter Benn, Clinical experience and follow-up with large scale single-nucleotide polymorphism–based noninvasive prenatal aneuploidy testing American Journal of Obstetrics and Gynecology. ,vol. 211, pp. 5- 7 ,(2014) , 10.1016/J.AJOG.2014.08.006
K. H. Nicolaides, A. Syngelaki, M. Gil, V. Atanasova, D. Markova, Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y Prenatal Diagnosis. ,vol. 33, pp. 575- 579 ,(2013) , 10.1002/PD.4103
Carole Samango-Sprouse, Milena Banjevic, Allison Ryan, Styrmir Sigurjonsson, Bernhard Zimmermann, Matthew Hill, Megan P. Hall, Margaret Westemeyer, Jennifer Saucier, Zachary Demko, Matthew Rabinowitz, SNP‐based non‐invasive prenatal testing detects sex chromosome aneuploidies with high accuracy Prenatal Diagnosis. ,vol. 33, pp. 643- 649 ,(2013) , 10.1002/PD.4159
Bernhard Zimmermann, Matthew Hill, George Gemelos, Zachary Demko, Milena Banjevic, Johan Baner, Allison Ryan, Styrmir Sigurjonsson, Nikhil Chopra, Michael Dodd, Brynn Levy, Matthew Rabinowitz, Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenatal Diagnosis. ,vol. 32, pp. 1233- 1241 ,(2012) , 10.1002/PD.3993