Down Syndrome

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Tests: T4, TSH, Triple/Quad Screen, First Trimester Down Syndrome Screen, Amniotic Fluid Analysis, CBC, Celiac Disease Tests, Chromosome Analysis
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In the News: New Blood Test for Detecting Fetal Abnormalities Gaining Interest (2013)

Elsewhere On The Web
National Down Syndrome Society
National Association for Down Syndrome
March of Dimes: Down Syndrome
Centers for Disease Control and Prevention: Birth Defects, Down Syndrome
National Down Syndrome Congress
Genetic and Rare Diseases Information Center: Down Syndrome
National Association for Down Syndrome

Article Sources

NOTE: This article is based on research that utilizes the sources cited here as well as the collective experience of the Lab Tests Online Editorial Review Board. This article is periodically reviewed by the Editorial Board and may be updated as a result of the review. Any new sources cited will be added to the list and distinguished from the original sources used.

Sources Used in Current Review

(Updated 2010 May 25). Down Syndrome. National Institute of Child Health & Human Development [On-line information]. Available online at http://www.nichd.nih.gov/health/topics/Down_Syndrome.cfm through http://www.nichd.nih.gov. Accessed January 2011.

Chen, H. (Updated 2010 March 22). Down Syndrome. eMedicine [On-line information]. Available online at http://emedicine.medscape.com/article/943216-overview through http://emedicine.medscape.com. Accessed January 2011.

(Reviewed 2010 December 20). Learning About Down Syndrome. National Human Genome Research Institute [On-line information]. Available online at http://www.genome.gov/19517824 through http://www.genome.gov. Accessed January 2011.

(2010 February 2). Down Syndrome. Centers for Disease Control and Prevention, Birth Defects [On-line information]. Available online at http://www.cdc.gov/ncbddd/birthdefects/DownSyndrome.htm through http://www.cdc.gov. Accessed January 2011.

Mayo Clinic Staff (2009 April 7). Down Syndrome. MayoClinic.com [On-line information]. Available online at http://www.mayoclinic.com/health/down-syndrome/DS00182 through http://www.mayoclinic.com. Accessed January 2011.

(2009 July). Down Syndrome. March of Dimes [On-line information]. Available online at http://www.marchofdimes.com/baby/birthdefects_downsyndrome.html through http://www.marchofdimes.com. Accessed January 2011.

(Reviewed 2008 June). Down Syndrome, Genetics Home Reference [On-line information]. Available online at http://ghr.nlm.nih.gov/condition/down-syndrome through http://ghr.nlm.nih.gov. Accessed January 2011.

Sources Used in Previous Reviews

Thomas, Clayton L., Editor (1997). Taber's Cyclopedic Medical Dictionary. F.A. Davis Company, Philadelphia, PA [18th Edition]. Pp 382-383.

(2005 March 29, Updated). Facts About Down Syndrome. National Institute of Child Health & Human Development [On-line information]. Available online at http://www.nichd.nih.gov/publications/pubs/downsyndrome/down.htm through http://www.nichd.nih.gov.

Van Cleve, S. and Cohen, W. (2006 January 27). Part I: Clinical Practice Guidelines With Down Syndrome From Birth to 12 Years. Medscape from J Pediatr Health Care. 2006;20(1):47-54 [On-line journal article]. Available online at http://www.medscape.com/viewarticle/521906?src=search through http://www.medscape.com.

(© 2005). Down Syndrome Facts. National Association for Down Syndrome [On-line information]. Available online at http://www.nads.org/pages/facts.htm through http://www.nads.org.

Sondheimer, N., Updated (2005 April 20). Down syndrome. MedlinePlus Medical Encyclopedia [On-line information]. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/000997.htm.

(2005 September, Reviewed). Down syndrome. Genetics Home Reference [On-line information]. Available online at http://ghr.nlm.nih.gov/condition%3Ddownsyndrome through http://ghr.nlm.nih.gov.

Cleary-Goldman, J. and Malone, F. (2005 September 26). Advances in Prenatal Diagnosis. Medscape from Appl Radiol. 2005;34(9):8-18. [On-line journal article]. Available online at http://www.medscape.com/viewarticle/513126?src=search through http://www.medscape.com.

(2006 January 6). Improved National Prevalence Estimates for 18 Selected Major Birth Defects --- United States, 1999—2001. MMWR 54(51&52); 1301-1305 [On-line information]. Available online at http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5451a2.htm through http://www.cdc.gov.

Barclay, L. and Nghlem, H. (2005 November 9). Eleven Weeks May Be the Best Time to Screen for Down’s Syndrome. Medscape Medical News [On-line CME]. Available online at http://www.medscape.com/viewarticle/516329?src=search through http://www.medscape.com.

(2003 February 1, Reviewed). Down Syndrome. Merck Manual Home Edition [On-line information]. Available online through http://www.merck.com.

Smith, D. (2001 September 15). Health Care Management of Adults with Down Syndrome. American Family Physician [On-line journal]. Available online at http://www.aafp.org/afp/20010915/1031.html through http://www.aafp.org.

(2004 December, Reviewed). Down Syndrome. March of Dimes Fact Sheet [On-line information]. Available online at http://www.marchofdimes.com/professionals/681_1214.asp through http://www.marchofdimes.com.

(2004 January). Down Syndrome. National Dissemination Center for Children with Disabilities [On-line information]. Available online at http://www.nichcy.org/pubs/factshe/fs4txt.htm through http://www.nichcy.org.

Pagana, Kathleen D. & Pagana, Timothy J. (© 2007). Mosby’s Diagnostic and Laboratory Test Reference 8th Edition: Mosby, Inc., Saint Louis, MO.

(2006 August 18, Updated). Facts About Down Syndrome. National Institute of Child Health & Human Development [On-line information]. Available online at http://www.nichd.nih.gov/publications/pubs/downsyndrome.cfm through http://www.nichd.nih.gov. Accessed on 2/25/07.

(2007 January 2). New Recommendations for Down Syndrome Call for Screening of All Pregnant Women [On-line information]. Available online at http://www.acog.org/from_home/publications/press_releases/nr01-02-07-1.cfm through http://www.acog.org. Accessed on 2/25/07.

(2007 February 16, Updated). Down Syndrome. National Institute of Child Health & Human Development [On-line information]. Available online at http://www.nichd.nih.gov/health/topics/Down_Syndrome.cfm/ through http://www.nichd.nih.gov. Accessed on 2/25/07.

(03/2002). Chromosomal Abnormalities. March of Dimes [On-line information]. Available online at http://www.marchofdimes.com/professionals/681_1209.asp through http://www.marchofdimes.com. Accessed on 2/25/07.

Van Cleve, S. and Cohen, W. (2006 January 27). Part I: Clinical Practice Guidelines with Down Syndrome from Birth to 12 Years. Medscape from J Pediatr Health Care 2006;20(1):47-54 [On-line Journal]. Available online at http://www.medscape.com/viewarticle/521906 through http://www.medscape.com. Accessed on 2/17/07.

Van Cleve, S., Cannon, S., and Cohen, W. (2006 May 30). Part II: Clinical Practice Guidelines for Adolescents and Adults with Down Syndrome 12-21 Years. Medscape from J Pediatr Health Care 2006;20(3):198-205 [On-line Journal]. Available online at http://www.medscape.com/viewarticle/532190 through http://www.medscape.com. Accessed on 2/17/07.

(2003 February, Revision). Down Syndrome. Merck Manual of Medical Information – Second Home Edition [On-line Journal]. Available online at http://www.merck.com/mmhe/print/sec23/ch266/ch266b.html through http://www.merck.com. Accessed on 2/17/07.

(2004 June). Maternal Blood Screening for Down Syndrome and Neural Tube Defects. March of Dimes [On-line information]. Available online at http://www.marchofdimes.com/professionals/681_1166.asp through http://www.marchofdimes.com. Accessed on 2/25/07.

ACOG Practice Bulletin. Obstetrics & Gynecology 109: 217-227 (2007).

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