• 1
    ACOG Practice Bulletin No. 77. Screening for chromosomal aneuploidies. Obstet Gynecol 2007; 109: 21727.
  • 2
    Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011; 31(1): 715.
  • 3
    Caughey AB, Hopkins LM, Norton ME. Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss. Obstet Gynecol 2006; 108(3 Pt 1): 6126.
  • 4
    Bianchi DW, Simpson JL, Jackson LG, et al. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn 2002; 22(7): 60915.
  • 5
    Guetta E, Simchen MJ, Mammon-Daviko K, et al. Analysis of fetal blood cells in the maternal circulation: challenges, ongoing efforts, and potential solutions. Stem Cells Dev 2004; 13(1): 939.
  • 6
    Lo YM, Chiu RW. Prenatal diagnosis: progress through plasma nucleic acids. Nat Rev Genet 2007; 8: 717.
  • 7
    Chiu RW, Chan KC, Gao Y, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci USA 2008; 105(51): 2045863.
  • 8
    Fan HC, Blumenfeld YJ, Chitkara U, et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci USA 2008; 105(16): 26671.
  • 9
    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(3): 205.e1205.e11.
  • 10
    Sehnert AJ, Rhees B, Comstock D, et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 2011; 57(7): 10429.
  • 11
    Chen EZ, Chiu RWK, Sun H, Akolekar R, et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One 2011; 6(7): e21791.
  • 12
    Liao GJ, Lun FM, Zheng YW, et al. Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles. Clin Chem 2011; 57(1): 92101.
  • 13
    Tukey JW. Exploratory Data Analysis. Addison-Wesley: Reading Massachusetts 1977.
  • 14
    Irizarry RA, Bolstad BM, Collin F, Cope LM, Hobbs B, Speed TP. Summaries of Affymetrix GeneChip Probe Level Data. Nucleic Acids Res 2003; 31(4): e15.
  • 15
    Conover WJ. Practical Nonparametric Statistics. John Wiley & Sons: New York 1971; 295301.
  • 16
    Royston P. An extension of Shapiro and Wilk's W test for normality to large samples. Appl Statist 1982; 31: 11524.
  • 17
    Lun FM, Chiu RW, Allen Chan KC, et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem 2008; 54(10): 16641672.
  • 18
    Chiu RW, Akolekar R, Zheng YWL, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011; 342: c7401.