cfDNA Testing: How to Decide

The decision of whether or not to pursue prenatal genetic testing is up to you. Your doctor and genetic counselor are available to you with all of the information you need to make an informed decision that fits with your beliefs, values, needs, and personality. Your healthcare providers should also be there to support you in any decision you make regarding genetic screening in your pregnancy.

The following are some questions that may be helpful to consider if you are on the fence about whether to have cfDNA (or any other) prenatal screening:

  • How would you feel if results indicated a higher risk for a genetic condition?
  • Would you consider amniocentesis?
    • If not, would you be ok waiting until the baby is born to know for sure if the condition is present if your prenatal cfDNA screening result returns high risk?
  • Do you think this information would help you feel more prepared?
  • Would you consider doing anything differently if you knew the baby had a genetic condition such as prepare, consider placing baby for adoption, or consider not continuing the pregnancy?
  • Does more information with the possibility of uncertainty make you anxious?
  • Some women prefer definitive answers and since prenatal cfDNA screening cannot provide that, they may choose to go straight to a more definitive test, such as chorionic villus sampling (CVS) or amniocentesis.
  • Some women may feel comfortable with their chance of a genetic condition or are confident that, even if the baby did have a genetic condition, it wouldn’t alter their pregnancy plans. Or they may prefer not to face the decision of whether or not to have an amniocentesis if the prenatal cfDNA screening comes back high risk. In these cases some women may decide not to undergo any prenatal screening or diagnostic testing.

Click here to learn more about scheduling a genetic counseling appointment for pregnancy-related questions.

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  • Our DNA is inside nearly every cell of our body, and is the instruction manual for how everything in our body grows and functions. Our cells are continuously dividing to create new cells. As cells break down, the DNA inside the cell is released into the blood as fragments or…
  • cfDNA started as a screening test for Down syndrome, but over time the list of conditions that can be screened for is expanding. Most labs now provide screening for Down syndrome, trisomy 18, and trisomy 13, as well as the sex chromosomes (X and Y). Down syndrome, trisomy 18, and trisomy…
  • Interpreting any prenatal genetic screening result can be challenging. Because of this, it may be helpful to meet with a specialist, such as a genetic counselor, who can review the specifics of your situation to help you understand what your cfDNA results mean for your pregnancy. It is important to…
  • With cfDNA testing, there is a possibility to get a no-call result. A no-call result means that the lab was not able to run the test, or that the test did not produce a result. There are a few possible reasons that prenatal cfDNA screening may not provide a result.…
  • There are pros and cons to both cfDNA screening and traditional screening, such as first trimester screening, second trimester screening, sequential screening, and ultrasound. For some conditions, particularly Down syndrome, cfDNA has been shown to be a more accurate screening test than traditional screening tests. cfDNA may also potentially screen…

Last updated on Aug 21st, 2019

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