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Case Reports in Genetics
Volume 2014 (2014), Article ID 823504, 3 pages
http://dx.doi.org/10.1155/2014/823504
Case Report

A Case of False Negative NIPT for Down Syndrome-Lessons Learned

Department of Human Genetics, Emory University, Atlanta, GA 30033, USA

Received 31 October 2013; Accepted 25 December 2013; Published 4 February 2014

Academic Editors: E. Mornet and G. Velagaleti

Copyright © 2014 Meagan Smith et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. D. W. Bianchi, L. D. Platt, J. D. Goldberg, A. Z. Abuhamad, A. J. Sehnert, and R. P. Rava, “Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing,” Obstetrics & Gynecology, vol. 119, no. 5, pp. 890–901, 2012. View at Publisher · View at Google Scholar · View at Scopus
  2. B. Zimmermann, M. Hill, G. Gemelos et al., “Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci,” Prenatal Diagnosis, vol. 32, no. 13, pp. 1233–1241, 2012. View at Publisher · View at Google Scholar
  3. T. K. Lau, F. Jiang, M. K. Chan et al., “Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnancies,” Journal of Maternal-Fetal and Neonatal Medicine, vol. 26, no. 4, pp. 434–437, 2013. View at Publisher · View at Google Scholar
  4. G. Ashoor, A. Syngelaki, M. Wagner, C. Birdir, and K. H. Nicolaides, “Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18,” American Journal of Obstetrics & Gynecology, vol. 206, no. 4, pp. 322.e1–322.e5, 2012. View at Publisher · View at Google Scholar · View at Scopus
  5. S. Dan, W. Wang, J. Ren 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,” Prenatal Diagnosis, vol. 32, no. 13, pp. 1225–1232, 2012. View at Publisher · View at Google Scholar
  6. K. H. Nicolaides, A. Syngelaki, G. Ashoor, C. Birdir, and G. Touzet, “Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population,” American Journal of Obstetrics & Gynecology, vol. 207, no. 5, pp. 374.e1–374.e6, 2012. View at Publisher · View at Google Scholar
  7. M. E. Norton, H. Brar, J. Weiss et al., “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 & Gynecology, vol. 207, no. 2, pp. 137.e1–137.e8, 2012. View at Publisher · View at Google Scholar
  8. G. E. Palomaki, E. M. Kloza, G. M. Lambert-Messerlian et al., “DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study,” Genetics in Medicine, vol. 13, no. 11, pp. 913–920, 2011. View at Publisher · View at Google Scholar · View at Scopus
  9. A. B. Sparks, C. A. Struble, E. T. Wang, K. Song, and A. Oliphant, “Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18,” American Journal of Obstetrics & Gynecology, vol. 206, no. 4, pp. 319.e1–319.e9, 2012. View at Publisher · View at Google Scholar · View at Scopus
  10. A. B. Sparks, E. T. Wang, C. A. Struble et al., “Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy,” Prenatal Diagnosis, vol. 32, no. 1, pp. 3–9, 2012. View at Publisher · View at Google Scholar · View at Scopus
  11. M. Smith and J. Visootsak, “Noninvasive screening tools for Down syndrome: a review,” International Journal of Women's Health, vol. 5, pp. 125–131, 2013. View at Publisher · View at Google Scholar
  12. American College of Obstetricians and Gynecologists Committee on Genetics, “Committee opinion no. 545: noninvasive prenatal testing for fetal aneuploidy,” Obstetrics & Gynecology, vol. 120, no. 6, pp. 1532–1534, 2012. View at Publisher · View at Google Scholar
  13. P. L. Devers, A. Cronister, K. E. Ormond et al., “Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors,” Journal of Genetic Counseling, vol. 22, no. 3, pp. 291–295, 2013. View at Publisher · View at Google Scholar
  14. A. R. Gregg, S. J. Gross, R. G. Best et al., “ACMG statement on noninvasive prenatal screening for fetal aneuploidy,” Genetics in Medicine, vol. 15, no. 5, pp. 395–398, 2013. View at Publisher · View at Google Scholar
  15. T. Futch, J. Spinosa, S. Bhatt et al., “Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples,” Prenatal Diagnosis, vol. 33, no. 6, pp. 569–574, 2013. View at Publisher · View at Google Scholar
  16. K. H. Nicolaides, A. Syngelaki, M. Gil, V. Atanasova, and 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, no. 6, pp. 575–579, 2013. View at Publisher · View at Google Scholar
  17. M. Ehrich, C. Deciu, T. Zwiefelhofer et al., “Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting,” American Journal of Obstetrics & Gynecology, vol. 204, no. 3, pp. 205.e1–205.e11, 2011. View at Publisher · View at Google Scholar · View at Scopus
  18. M. Savage, “Merging into clinical practice: updates in non-invasive prenatal testing,” in Proceedings of the 31st NSGC Annual Education Conference, Boston, Mass, USA, 2012.
  19. R. W. K. Chiu, K. C. A. Chan, Y. Gao et al., “Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma,” Proceedings of the National Academy of Sciences of the United States of America, vol. 105, no. 51, pp. 20458–20463, 2008. View at Publisher · View at Google Scholar · View at Scopus
  20. Verinata Health, “Analytical Validation of the Verifi Prenatal Test: Enhanced Test Performance for Detecting Trisomies 21, 18 and 13 and the Option for Classification of Sex Chromosome Status,” Redwood City, Calif, USA, 2012.