Condition Basics

What is birth defects testing?

Birth defects testing is done during pregnancy to look for possible problems with the baby (fetus). A birth defect may have only a minor impact on a child's life. Or it can have a major effect on quality or length of life.

You and your doctor can choose from many tests. You may have no tests, one test, or many tests.

What are the types of tests?

You may have a screening test or a diagnostic test, or both. Screening tests show the chance that a baby has a certain birth defect or genetic condition, such as Down syndrome, spina bifida, or trisomy 18. Diagnostic tests show if a baby has a certain birth defect or genetic condition.

Should you have birth defects tests?

The decision to test for birth defects is personal. There's a lot to think about, like what the results would mean to you and how they might affect your choices. If you choose testing, you may want to talk with a genetic counselor to discuss reasons to have or not have the test.