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Original Article

Initial experience with non-invasive prenatal testing of cell-free DNA for major chromosomal anomalies in a clinical setting

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Pages 1196-1201 | Received 11 Jun 2014, Accepted 20 Jul 2014, Published online: 12 Aug 2014

References

  • Chiu RW, Akolekar R, Zheng YW, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validation study. BMJ 2011;342:c7401
  • Ehrich M, Deciu C, Zweifelhofer T, et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011;204:205.e201–11
  • Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011;13:913–20
  • Sparks AB, Struble CA, Wang ET, et al. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012;206:319.e1–9
  • Ashoor G, Syngelaki A, Wagner M, et al. Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012;206:322.e1–5
  • Norton ME, Brar H, Weiss J, et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012;207:137.e1–8
  • Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012;119:890–901
  • Nicolaides KH, Syngelaki A, Ashoor G, et al. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012;207:374.e1–6
  • Malone FD, Canick JA, Ball RH, et al. First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med 2005;353:2001–11
  • Kagan KO, Etchegaray A, Zhou Y, Wright D, Nicolaides KH. Prospective validation of first trimester combined screening for trisomy 21. Ultrasound Obstet Gynecol 2009;34:14–18
  • Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011;31:7–15
  • Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 2012;14:296–305
  • Stumm M, Entezami M, Haug K, et al. Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe. Prenat Diagn 2014;34:185–91
  • Lau TK, Chan MK, Lo PS, et al. Clinical utility of noninvasive fetal trisomy (NIFTY) test-early experience. J Matern Fetal Neonatal Med 2012;25:1856–9
  • Dan S, Wang W, Ren J, et al. Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors. Prenat Diagn 2012;32:1225–32
  • Song Y, Liu C, Qi H, et al. Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat Diagn 2013;33:700–6
  • Bianchi DW, Parker RL, Wentworth J, et al. DAN sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014;370:799–808
  • Verweij EJ, Jacobsson B, van Scheltema PA, et al. European non-invasive trisomy evaluation (EU-NITE) study: a multicenter prospective cohort study for non-invasive fetal trisomy 21 testing. Prenat Diagn 2013;33:996–1001
  • Gil MM, Quezada MS, Bregant B, et al. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol 2013;42:34–40
  • Fairbrother G, Johnson S, Musci TJ, Song K. Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population. Prenat Diagn 2013;33:580–3
  • Zimmermann B, Hill M, Gemelos G, et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 2012;32:1233–41
  • Nicolaides KH, Syngelaki A, Gil M, et al. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat Diagn 2013;33:575–9
  • Canick JA, Palomaki GE, Kloza EM, et al. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn 2013;33:667–74
  • Wang E, Batey A, Struble C, et al. Gestational age and maternal weight effects on fetal cellfree DNA in maternal plasma. Prenat Diagn 2013;33:662–6
  • Futch T, Spinosa J, Bhatt S, et al. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn 2013;33:569–74
  • Song K, Musci TJ, Caughey AB. Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population. J Matern Fetal Neonatal Med 2013;26:1180–5
  • Garfield SS, Amstrong SO. Clinical and cost consequences of incorporating a novel non-invasive prenatal test into the diagnostic pathway for fetal trisomies. J Manag Care Med 2012;15:34–41
  • Manegold-Brauer G, Kang Bellin A, Hahn S, et al. A new era in prenatal care: non-invasive prenatal testing in Switzerland. Swiss Med Wkly 2014;144:w13915:1–5
  • Ashoor G, Poon L, Syngelaki A, et al. Fetal fraction in maternal plasma cell-free DNA at 11–13 weeks’ gestation: effect of maternal and fetal factors. Fetal Diagn Ther 2012;31:237–43
  • American College of Obstetricians and Gynecologists. Committee Opinion No. 545: noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol 2012;120:1532–4

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