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.
Apr. 19, 2014
- What is Down syndrome? National Down Syndrome Society. http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/. Accessed Nov. 14, 2013.
- Down syndrome fact sheet. National Down Syndrome Society. http://www.ndss.org/Down-Syndrome/Down-Syndrome-Facts/. Accessed Nov. 14, 2013.
- Learning about Down syndrome. National Human Genome Research Institute. http://www.genome.gov/19517824. Accessed Nov. 14 2013.
- Down syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/down-syndrome. Accessed Nov. 14, 2013.
- Facts about Down syndrome. Centers for Disease Control and Prevention. http://www.cdc.gov/ncbddd/birthdefects/DownSyndrome.html. Accessed Nov. 13, 2013.
- Ostermaier KK. Down syndrome: Clinical features and diagnosis. http://www.uptodate.com/home. Accessed Nov. 14, 2013.
- Messerlian GM, et al. Overview of prenatal screening and diagnosis of Down syndrome. http://www.uptodate.com/home. Accessed Nov. 14, 2013.
- American College of Obstetricians and Gynecologists (ACOG) Committee on Practice Bulletins — Obstetrics. ACOG Practice Bulletin No. 77. Screening for fetal chromosomal abnormalities. Obstetrics & Gynecology. 2007;109:217. Reaffirmed 2011.
- Frequently asked questions. Pregnancy FAQ094. Genetic disorders. American College of Obstetricians and Gynecologists. http://www.acog.org/~/media/For%20Patients/faq094.pdf?dmc=1&ts=20131118T2245557486. Accessed Nov. 14, 2013.
- How do health care providers diagnose Down syndrome? Eunice Kennedy Shriver National Institute of Child Health and Human Development. https://www.nichd.nih.gov/health/topics/down/conditioninfo/Pages/diagnosed.aspx. Accessed Nov. 18, 2013.
- Ghidini A. Chorionic villus sampling: Risks, complications, and techniques. http://www.uptodate.com/home. Accessed Dec. 4, 2013.
- Hoecker JL (expert opinion). Mayo Clinic, Rochester, Minn. Dec. 5, 2013.
- Patterson MC (expert opinion). Mayo Clinic, Rochester, Minn. Dec. 22, 2013.
- Harms RW (expert opinion). Mayo Clinic, Rochester, Minn. Jan. 16, 2014.
- American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstetrics & Gynecology. 2012;120:1532.
- Second trimester: Cordocentesis (percutaneous umbilical blood cord sampling, PUBS). Lab Tests Online. http://labtestsonline.org/understanding/wellness/pregnancy/second-trimester/cordo/. Accessed Jan. 17, 2014.
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