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Presentations on Genetic Screening 3/19/03

Genetic Screening- Building a Family

Michael

 

Typical Scenario

  • Couple finds out they are pregnant
  • During one of the first prenatal appointments, they are given a large stack of reading material
  • Given a list of tests that are done during pregnancy

Typical Tests

  • Ultrasound at 8 weeks to confirm pregnancy
  • AFP test between 15 to 20 weeks to check for birth defects
  • Ultrasound at about 20 weeks
  • Glucose Tolerance Test between 24 and 28 weeks to check for gestational diabetes
  • GBS test at 35 to 37 weeks

What the doctor might not tell you

  • What each test is for
  • What the likelihood of your baby having any of these conditions is
  • How accurate the tests are
  • You can choose to not have the tests done

AFP Test

  • Measures the levels of alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol
  • Checks for neural tube defects, Down Syndrome, and Trisomy 18

Positive AFP Test

  • If the test comes back positive, the doctor will recommend a Level II ultrasound and an amniocentesis
  • Amniocentesis has about a 0.5% chance of miscarriage
  • AFP test has a false positive rate of 80 to 90%

Times to Consider Genetic Screening

  • Before deciding to have children
    • Blood tests on both parents to check for the presence of genetic diseases
    • Couple can choose if they want to risk getting pregnant

Times to Consider Genetic Screening

  • After getting pregnant
    • AFP Test
    • Amniocentesis
    • Couple can decide to abort the fetus

Issues

  • Confidentiality
  • Informing family members
  • Accuracy of the screening tests
  • What do you test for?
  • What do you do with the results?

References

AFP and Triple Screen Testing, Online:
http://pregnancy.about.com/library/weekly/aa120897.htm

Boylan and Brown, Genetic Engineering Science and Ethics on the New Frontier, 2001, pgs 92-101.

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 Updated 3/31/03 by thatcher@sonoma.edu