In-depth

Tests and diagnosis

Amniocentesis

Chorionic villus sampling

Cordocentesis

Genetic testing

Prenatal testing: Quick guide to common tests

Ultrasound

June 27, 2017
References
  1. What is Down syndrome? National Down Syndrome Society. http://www.ndss.org/down-syndrome/what-is-down-syndrome/. Accessed Dec. 16, 2016.
  2. Down syndrome fact sheet. National Down Syndrome Society. http://www.ndss.org/Down-Syndrome/Down-Syndrome-Facts/. Accessed Dec. 16, 2016.
  3. Messerlian GM, et al. Down syndrome: Overview of prenatal screening. http://www.uptodate.com/home. Accessed Dec. 16, 2016.
  4. National Library of Medicine. Down syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/down-syndrome. Accessed Dec. 16, 2016.
  5. Facts about Down syndrome. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html. Accessed Dec. 16, 2016.
  6. Down syndrome. Eunice Kennedy Shriver National Institute of Child Health and Human Development. https://www.nichd.nih.gov/health/topics/down/conditioninfo/Pages/default.aspx. Accessed Dec. 16, 2016.
  7. Frequently asked questions. Prenatal genetic diagnostic tests. FAQ164. Pregnancy. American College of Obstetricians and Gynecologists. https://www.acog.org/-/media/For-Patients/faq164.pdf?dmc=1&ts=20161216T1208042192. Accessed Dec. 16, 2016.
  8. Ostermaier KK. Down syndrome: Management. http://www.uptodate.com/home. Accessed Dec. 22, 2016.
  9. Ostermaier KK. Down syndrome: Clinical features and diagnosis. http://www.uptodate.com/home. Accessed Jan. 10, 2017.
  10.  Gabbe SG, et al., eds. Genetic screening and prenatal genetic diagnosis. In: Obstetrics: Normal and Problem Pregnancies. 7th ed. Philadelphia, Pa.: Saunders Elsevier; 2017.
  11. Rink BD, et al. Screening for fetal aneuploidy. Seminars in Perinatology. 2016;40:35.
  12. Bunt CW, et al. The role of the family physician in the care of children with Down syndrome. American Family Physician. 2014;90:851.
  13. Butler Tobah YS (expert opinion). Mayo Clinic, Rochester, Minn. Jan. 26, 2017.