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REFERENCES

  • 1
    Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350:4857.
  • 2
    Chiu RW, Sun H, Akolekar R, et al. Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21. Clin Chem 2009;56:45963.
  • 3
    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-.e11.
  • 4
    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;13:91320.
  • 5
    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;14:296305.
  • 6
    Canick JA, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diagn 2012;32:7304.
  • 7
    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-.e8.
  • 8
    Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012;119:890901.
  • 9
    Lo YM, Chan KC, Sun H, et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med 2010;2:61ra91.
  • 10
    Kitzman JO, Snyder MW, Ventura M, et al. Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med 2012;4:137ra76.
  • 11
    Jensen, TJ, Dzakula, Z, Deciu, C, et al. Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma. Clin Chem 2012;58(7):114851.
  • 12
    Fan HC, Gu W, Wang J, et al. Non-invasive prenatal measurement of the fetal genome. Nature 2012;487:320324.
  • 13
    Srinivasan A, Bianchi DW, Huang H, et al. Noninvasive detection of fetal subchromosomal abnormalities via deep sequencing of maternal plasma. Am J Hum Genet 2013;92(2):167176.
  • 14
    Morris JK, Alberman E, Scott C, Jacobs P. Is the prevalence of Klinefelter syndrome increasing? Eur J Hum Genet 2007;16:16370.
  • 15
    Liang D, Lv W, Wang H, et al. Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat Diagn 2013. doi: 10.1002/pd.4033. [Epub ahead of print]
  • 16
    Zimmerman 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;32:19.
  • 17
    Simpson JL. Disorders of Sexual Differentiation: Etiology and Clinical Delineation. Waltham, MA: Academic Press, 1976.
  • 18
    Yao H, Zhang L, Zhang H, et al. Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X. Prenat Diagn 2012;32:11141116.
  • 19
    Jensen TJ, Zwiefelhofer T, Tim RC, et al. High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma. PLoS One 2013;8(3):e57381.
  • 20
    Nygren AO, Dean J, Jensen TJ, et al. Quantification of fetal DNA by use of methylation-based DNA discrimination. Clin Chem 2010;56:162735.
  • 21
    Langmead B, Salzberg SL. Fast gapped-read alignment with Bowtie 2. Nat Meth 2012;9:3579.
  • 22
    Mazloom AR, Wang T, Palomaki GE, et al. Accuracy of noninvasive prenatal sex determination using massively parallel sequencing in samples from a large clinical validation study. (Abstract #3016T) Presented at the 62nd Annual Meeting of The American Society of Human Genetics, Nov 8 2012, San Francisco, CA. 2012.
  • 23
    Allen R, Kezmarsky P, Lescale K. False negative NIPT and potential implications for genetic counseling. Presented at the 2013 ACMG Annual Clinical Genetics Meeting, Phoenix AZ USA.
  • 24
    Osborne C, Hardisty E, Devers P, et. al. False positive noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease. Presented at the 2013 ACMG Annual Clinical Genetics Meeting, Phoenix AZ USA
  • 25
    American College of Obstetricians and Gynecologists. Noninvasive prenatal testing for fetal aneuploidy. Committee opinion No. 545. Obstet Gynecol 2012;120:15324.