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Birth Defects Testing - Deciding About Testing

The decision to have a test for birth defects is personal. You have to think about your age, your chance of passing on a family disease, your need to know about any problems, and what you might do after you have the test results. Your spiritual beliefs and other values also may play a role in your decision.

Some birth defects—such as a cleft lip or cleft palate or certain heart problems—can be fixed with surgery after birth and sometimes even with surgery during pregnancy. Some other defects cannot be fixed.

Reasons to have tests

You may decide to have the tests because:

  • You would think about whether to continue the pregnancy if there is a birth defect.
  • You have a family history of an illness such as cystic fibrosis, Tay-Sachs disease, or hemophilia. For more information on cystic fibrosis testing, see the topic Cystic Fibrosis Carrier Screening.
  • You have insurance that will pay for some or all of the cost of the tests.
  • You need to know whether there might be a problem, because not knowing would make you worry.
  • You want to learn all you can about caring for and raising a child with a certain birth defect.
  • You would want to plan what hospital and doctors to work with to make sure that all of your baby's needs are met.

Reasons NOT to have tests

You may decide not to have birth defects tests because:

  • You would continue the pregnancy no matter what the tests show.
  • The screening test may show a problem even though your baby doesn't have the problem. You would be worried while you wait for the test results.
  • These tests can't find all possible problems.
  • You are worried about the risk of miscarriage. Both CVS and amniocentesis have a small risk of miscarriage.
  • Tests can be expensive. You may not have insurance, or your insurance may not pay for the tests.

For more help on deciding about tests, see the topics:

Pregnancy: Should I Have the Maternal Serum Triple or Quadruple Test?
Pregnancy: Should I Have an Early Fetal Ultrasound?
Pregnancy: Should I Have CVS (Chorionic Villus Sampling)?
Pregnancy: Should I Have Amniocentesis?
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WebMD Medical Reference from Healthwise

Last Updated: May 10, 2013
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.
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