Q&A: Cell Free DNA & NIPT (Non Invasive Prenatal Test)

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Episode Content and Overview

You have several options during your pregnancy when it comes to testing for chromosome abnormalities in your baby. The most common non-invasive screening tests are the first trimester screen and quad screen and these have been offered to all pregnant women for many years. With better technology comes more options for testing, especially when it comes to examining DNA. The cfDNA (cell free DNA) test, which became available in 2011, is named for the fragments of your baby’s DNA that are freely floating in your blood stream. This simple blood test from you can test for many more chromosome abnormalities than the traditional screen tests, plus the sex of your baby and their Rh factor. This episode breaks down everything you need to know about the cfDNA or NIPT test compared to other options so you can decide whether to opt in to this test and how to understand the results.

Included in This Episode

• First trimester screen and Quad screen
• cfDNA (cell free DNA) or NIPT (non-invasive prenatal test)
• Non-invasive vs. invasive tests
• Anxiety about test results
• Screening vs. diagnostic tests
• What does cfDNA test for?
• Chromosome abnormalities
• Trisomies (i.e. Trisomy 21 – Down syndrome)
• Sex chromosome aneuploidy
• Finding Out Your Baby’s Sex
• Microdeletions
• Triploidy
• Rh factor
• Negative Blood Types and the RhoGAM Shot
• Who the cfDNA test is generally offered to
• When you can take this test and when you get the results
• Accuracy (sensitivity, specificity, and positive predictive value)
• Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis
• Circumstances that make the results less accurate
• Different cfDNA testing options
• SMFM Statement: Maternal serum cell-free DNA screening in low risk women
• DNA Sequencing versus Standard Prenatal Aneuploidy Screening
• Health insurance coverage for cfDNA & NIPT
• Before you make the choice to opt in to any prenatal test there are several questions to consider:
  • Will the information from the test shape your prenatal care?
  • What will you do with the test results?
  • How accurate are the results of the test?
  • What are the risks?
  • Is it covered by insurance or how much will it cost?
• Talking to your care provider or a genetic counselor
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