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Pregnancy-Related Genetic Testing – It’s Up to You

Most babies are born healthy, but every pregnancy carries a 3 to 5 percent chance of a genetic condition or birth defect. If you don’t like surprises, even that small chance might prompt you to get tested. On the other hand, the anxiety of testing might cause undue stress for you.

In other words, it’s your decision. How do you know what’s right for you? It’s important to understand there are several types of tests:

  • Carrier screening: This test can be performed on a blood or cheek swab sample and can determine if you and your partner silently carry a genetic condition. The ideal time to have carrier screening is before pregnancy so you can discuss your options if you learn you carry a gene for a condition.
  • Pregnancy screening tests: Non-invasive pregnancy testing (NIPT), also known as cell-free DNA screening (cfDNA), and other blood tests screen for chromosomal abnormalities such as Down syndrome, but aren’t 100 percent accurate. If results indicate an increased risk, you may choose to proceed to diagnostic testing.
  • Diagnostic testing: Procedures such as amniocentesis and chorionic villus sampling (CVS) will give you a definite answer and can test for more conditions than screening tests, but are invasive and have slight risks for complications, including miscarriage.

Before you say yes to the test, think carefully about what you want to accomplish. Consider:

  • How worried are you about the possibility of a genetic condition?
  • Would you want to know if your baby had a genetic condition before you give birth?
  • Do you have any risk factors, such as: family history of a genetic condition, having had two or more miscarriages, or being older than 35?
  • If you’re not yet pregnant, would a prenatal diagnosis affect your plans? For example, would you consider alternative options, such as adoption or in vitro fertilization?

If you’re unsure about whether to proceed with testing, a genetic counselor can help sort through the pros and cons and, if you decide to move forward, which tests make the most sense for you and what the results mean. Find a genetic counselor near you at

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