Bibliografia di riferimento

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  2. ACOG Practice Bulletin No. 88. Invasive prenatal testing for aneuploidy. Obstet Gynecol. 2007;110:1459-1467.
  3. Ashoor, G., Syngelaki, A., Wagner, M., Birdir, C., Nicolaides, K.H., Chromosome-selective sequencing of maternal plasma cell-free DNA for first trimester detection of trisomy 21 and trisomy 18, Am J Obstet Gynecol. (2012), doi: 10.1016/j.ajog.2012.01.029.
  4. Caughey AB, Kaimal AJ, Odibo AO. Cost-effectiveness of Down syndrome screening paradigms. Clin Lab Med. 2010;30:629-642. Review.
  5. Chiu RWK, Akolekar R, Zheng YWL, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. Brit Med J. 2011;342:c7401.
  6. Data on file.
  7. Ehrich M, Deciu C, Zwiefelhofer 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.e1-205.e11.
  8. Malone FD, Canick JA, Ball RH. First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med. 2005;353:2001-2011.
  9. 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;13:913-920.
  10. Sparks, A.B., Wang, E.T., Struble, C.A., Barrett, W., et al, Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn (2012);32(1):3-9. doi: 10.1002/pd.2922. Epub 2012 Jan 6.
  11. Sparks, A.B., Struble, C.A., Wang, E.T., Song, K., Oliphant, A., Non-invasive 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), doi: 10.1016/j.ajog.2012.01.030.
  12. Norton, M., Brar, H., Weiss, J., Karimi, A., 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), doi:10.1016/j.ajog.2012.05.021.
  13. Brar H, Wang E, Struble C, et al. The fetal fraction of cell-free DNA in maternal plasma is not affected by a priori risk of fetal trisomy. J Matern Fetal Neonatal Med (2012), DOI: 10.3109/14767058.2012.722731
  14. Ashoor G, Syngelaki A, Nicolaides KH, et al. Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method, ULTRASOUND Obstet Gynecol. (2012), DOI: 10.1002/uog.12299.
  15. 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