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Additional References

NIPD ANEUPLOIDY DETECTION BY DNA SEQUENCING

  1. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Fan HC et al. Proc Natl Acad Sci U S A. 2008 Oct 21; 105(42):16266-71.
  2. Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics. Fan HC et al. PLoS One. 2010 May 3; 5(5):e10439. Available at: http://www.ncbi.nlm.nih.gov/pmc/articles/
    PMC2862719/pdf/pone.0010439.pdf    .
  3. Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood. Sehnert A et al. Clin Chem. 2011 Jul; 57(7):1042-9.
  4. Genome wide fetal aneuploidy detection by sequencing of maternal plasma DNA: diagnostic accuracy in a prospective, blinded, multicenter study. Bianchi D et al. AJOG. 2012 Jan; Abstract 837: S367.

COST EFFECTIVENESS & CLINICAL UTILITY

  1. Cost utility of prenatal diagnosis and the risk-based threshold. Harris RA et al. Lancet. 2004 Jan 24; 363(9405):276-82.

PATIENT QUALITY OF LIFE (QoL)

  1. Clinical correlates of pain with amniocentesis. Harris A et al. Am J Obstet Gyneco. 2004 Aug; 191(2):542-5.
  2. Prospective Study on the Effect of Rapid Aneuploidy Testing (Amnio-PCR) on Anxiety Levels and Quality of Life Measures in Women and Their Partners with Positive Down Screening Result. Leung WC et al. Fetal Diagn Ther. 2008; 24(3):165-9.
  3. Maternal anxiety at amniocentesis and plasma cortisol. Sarkar P et al. Prenat Diagn. 2006 Jun; 26(6):505-9.

OTHER

  1. Should Non-Invasiveness Change Informed Consent Procedures for Prenatal Diagnosis? Deans, Z et al. Health Care Anal. 2011 Jun; 19(2):122-32.