Genetic Screening

What Is Genetic Screening?

IMAGE Genetic screening is a process used to determine a child's riskof inheriting certain diseases or birth defects from his or herparents. Couples planning to have a baby might be concerned aboutillnesses that have occurred in family members. The besttime to have genetic screening is before a pregnancy,but it can also be done at specific time points during a pregnancy. There are several tests that look for different genetic disorders.

Who Should Have Genetic Screening?

Keep in mind that genetic testing is not done for every pregnancy. Some have an increased risk of having a child with a genetic condition. Here are some common reasons your healthcare provider may recommend genetic screening:
  • Mother or father has family members with inherited disorders
  • Mother is 35 years old or older when you deliver yourbaby
  • Previous child with a hereditary disease orbirth defect
  • Previous stillbirths or several miscarriages
  • Abnormalities in the pregnancy, such as too much or too little serumalpha fetoprotein (AFP)
Conditions that your healthcare provider may screen for include:
  • Down syndrome
  • Cysticfibrosis—Caused by two defective genes, affecting the lungs and pancreas.
  • Tay-Sach's disease—A braindisorder, which is more common in people of Eastern European (Ashkenazi) Jewish descent, that causes early death.
  • Thalassemia—A type of anemia caused by abnormal red blood cells. The condition is more common in people from southeastAsia, China, and Mediterranean countries, such as Greece and Italy.
  • Hemophilia—A blood clotting disorder.
  • Sickle cell anemia—More common in African Americans of sub-Saharan origin, affecting the red blood cells.
  • Any possible genetic defect that may affect your child in the future, such as BRAC mutations that increase the risk of breast and ovarian cancers.

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