References

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  1. Sheets KB, Crissman BG, Feist CD, Sell SL, et al. Practice guidelines for communicating a prenatal or postnatal diagnosis of down syndrome: Recommendations of the National Society of Genetic Counselors. J Genet Couns. 2011 Oct;20(5):432-441.
  2. Parker SE, Mai CT, Canfield MA, Rickard R, et al. 2010. Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A. 2010 Dec;88(12):1008-1016.
  3. American College of Obstetricians and Gynecologists (ACOG) Committee on Practice Bulletins. ACOG Practice Bulletin No. 77, January 2007. Screening for fetal chromosomal abnormalities. Obstet Gynecol. 109(1):217-228.
  4. National Institutes of Health. 2009. Genetics Home Reference. Reviewed January 2009 from: http://ghr.nlm.nih.gov
  5. Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, et al. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genet Med. 2011 Nov;13(11):913-920.
  6. Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13, as well as Down syndrome: An international collaborative study. Genet Med. 2012 Mar;14(3):296-305.
  7. Canick JA, Kloza EM, Lambert-Messerlian GM, Haddow JE, Ehrich M, van den Boom D, Bombard AT, Deciu C, Palomaki GE. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diagn. 2012 Aug;32(8):730-734.
  8. Skotko BG, Kishnani PS, Capone GT for the Down Syndrome Diagnosis Study Group. 2009. Prenatal diagnosis of Down syndrome: How best to deliver the news. Am J Med Genet A. 2009 Nov;149A(11):2361-2367.
  9. American College of Obstetricians and Gynecologists (ACOG) Committee on Practice Bulletins. ACOG Practice Bulletin No. 77, January 2007. Screening for fetal chromosomal abnormalities. Obstet Gynecol. 109(1):217-228.
  10. American College of Obstetricians and Gynecologists (ACOG) Committee on Practice Bulletins. ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol. 110(6):1459-1467.
  11. Committee opinion no. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol. 2012 Dec;120(6):1532-1534.
  12. Benn P, Borrell A, Cuckle H, Dugoff L, et al. Prenatal detection of Down syndrome using massively parallel sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011. Prenat Diagn. 2012 Jan;32(1):1-2.
  13. National Society of Genetic Counselors Position Statement: Regulation of Genetic Testing.http://www.nsgc.org/Advocacy/PositionStatements/tabid/107/Default.aspx#noninvasive (Accessed August 7, 2012).
  14. National Coalition for Health Professional Education in Genetics (NCHPEG) and the National Society for Genetic Counselors (NSGC) Non-Invasive Prenatal Testing (NIPT) Factsheet. http://tiny.cc/nipt_factsheet (Accessed August 7, 2012).

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