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Cell-Free DNA Testing | My Doctor Online

Cell-Free DNA Testing

Cell-free DNA screening (cfDNA) is an optional prenatal blood test. This test looks for certain chromosomal (genetic) conditions in a developing baby. It’s also called noninvasive prenatal testing (NIPT). cfDNA can be done after 10 weeks of pregnancy – ideally between 11 and 21 weeks.

What does cfDNA screen for?

This test screens for some conditions caused by too many chromosomes. These conditions include Down syndrome, trisomy 18, and trisomy 13. In pregnancies with one baby, cfDNA also screens for variations in the X and Y sex chromosomes. These conditions include Turner syndrome, Klinefelter syndrome, trisomy X, and XYY. Sex chromosomal conditions can’t be screened in a twin pregnancy. The test doesn’t screen for any other chromosomal conditions or birth defects.

Can cfDNA tell the sex of the baby?

Yes, cfDNA can predict the sex of the baby. This can be included in the test results on request. There’s a small chance (less than 1 percent) for the sex prediction to be wrong.

How does cfDNA work?

The test studies bits of fetal DNA that can be found in a person’s blood when they’re pregnant. These fragments of fetal DNA come mainly from the placenta.

What type of results could I get?

cfDNA test results can be:

  • Screen negative. This result means the baby is unlikely to have any of the conditions the test looked for.
  • Screen positive. This means the baby has a higher chance of having one of the chromosomal conditions the test looked for. Your doctor will talk to you about additional testing that can find out for sure.
  • Inadequate (no result). This means the sample didn’t meet our quality standards and a result couldn’t be obtained. Your doctor may order a repeat cfDNA test or refer you to a specialist to talk about other options.

Are screening tests 100 percent accurate?

Not always. CfDNA tests can:

  • Give a false positive result. This is when the test results are positive, but the baby does not have any of the conditions the test looked for.
  • Give a false negative result. This is when the test results are negative, but the baby does have one of the conditions the test looked for. This type of result is rare.

Additional References

Disclaimer

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This information is not intended to diagnose health problems or to take the place of specific medical advice or care you receive from your physician or other health care professional. If you have persistent health problems, or if you have additional questions, please consult with your doctor. If you have questions or need more information about your medication, please speak to your pharmacist. Kaiser Permanente does not endorse the medications or products mentioned. Any trade names listed are for easy identification only.