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What Is Genetic Screening?
Who Should Have Genetic Screening?
- Mother or father has family members with inherited disorders
- Mother is 35 years old or older when you deliver your baby.
- Previous child with a hereditary disease or birth defect.
- Previous stillbirths or several miscarriages.
- Abnormalities in the pregnancy such as too much or too little serum alpha fetoprotein (AFP).
- Tay-Sach's disease is a brain disorder, which is more common in people of Eastern European (Ashkenazi) Jewish descent, that causes early death.
- Thalassemia causes abnormal red blood cells. The condition is more common in people from southeast Asia, China, and Mediterranean countries, such as Greece and Italy.
- Hemophilia is a blood clotting disorder.
- Cystic fibrosis , caused by two defected genes, affects the lungs and pancreas.
- Sickle cell anemia , which is more common in African Americans of sub-Saharan origin, affects the red blood cells.
What Should I Know Before Having Genetic Screening?
- Exposure to environmental hazards before or during pregnancy (such as x-rays or other radiation; chemicals used at work, home, or with hobbies)
- Any prescription or nonprescription drugs you took before pregnancy or before you knew you were pregnant
- Any history of alcohol or drug use
What Takes Place During the Genetic Screening Process?
- Blood tests to check the levels of alpha fetoprotein, with possible follow-up tests to look for neural tube defects
- Ultrasound scans to check for birth defects of the brain, heart, spine, arms, legs, and other organs
- Chorionic villus sampling (CVS) to check for chromosomal abnormalities
- Amniocentesis to check for chromosomal abnormalities
American Congress of Obstetricians and Gynecologists http://www.acog.org
Women's Health—US Department of Health and Human Services http://www.womenshealth.gov
Society of Obstetricians and Gynaecologists of Canada http://sogc.org
Women's Health Matters http://www.womenshealthmatters.ca
Screening and Monitoring During Pregnancy. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated November 28, 2012. Accessed December 17, 2012.
Screening for Birth Defects. American College of Obstetricians and Gynecologists website. Available at: http://www.acog.org/~/media/For%20Patients/faq165.pdf?dmc=1&ts=20121217T1134388121. Accessed December 17, 2012.
- Reviewer: Brian Randall, MD
- Review Date: 12/2012
- Update Date: 12/17/2012