Tests and diagnosis
Amniocentesis — Overview covers definition, risks, results of this prenatal test.
Chorionic villus sampling — Overview covers definition, risks, results of this early prenatal test.
Cordocentesis — Overview covers definition, risks, results of this prenatal diagnostic test.
Genetic testing is used to detect altered genes that may cause illness or disease. Although genetic testing can offer important health information, it has limitations.
During pregnancy you might have the option to pursue various screening tests. Here's what the tests can tell you.
Ultrasound imaging uses high-frequency sound waves to create images of structures in your body.
Apr. 07, 2011
- Facts about Down syndrome. National Institute of Child Health and Human Development. http://www.nichd.nih.gov/publications/pubs/downsyndrome.cfm. Accessed Feb. 14, 2011.
- Barss V, et al. Overview of prenatal screening and diagnosis of Down syndrome. http://www.uptodate.com/home/index.html. Accessed Feb. 14, 2011.
- Esbensen AJ. Health conditions associated with aging and end of life of adults with Down syndrome. International Review of Research in Mental Retardation. 2010;39:107.
- What causes Down syndrome? National Down Syndrome Society. http://www.ndss.org/index.php?option=com_content&task=category§ionid=23&id=60&Itemid=234. Accessed Feb. 14, 2011.
- Genetic conditions: Down syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=downsyndrome. Accessed Feb. 14, 2011.
- ACOG practice bulletin no. 77: Screening for fetal chromosomal abnormalities. Obstetrics and Gynecology. 2007;109:217.
- Birth defects: Down syndrome. Centers for Disease Control and Prevention. http://www.cdc.gov/ncbddd/birthdefects/DownSyndrome.htm. Accessed Feb. 15, 2011.
- Roizen NJ. Clinical features and diagnosis of Down syndrome. http://www.uptodate.com/home/index.html. Accessed Feb. 15, 2011.
- Birth defects. In: American College of Obstetricians and Gynecologists. Your Pregnancy and Childbirth Month to Month. 5th ed. Washington, D.C.: American College of Obstetricians and Gynecologists; 2010:343.
- Harms RW (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 15, 2011.
- Chiu RWK, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: Large scale validity study. British Medical Journal. 2011;342:7401.