Genetic screening tests like cell-free DNA (sometimes called NIPT) are gaining in popularity across the country. What does this screening really tell you? Should we think of it as “just a routine blood test”? What does a positive result actually mean? And what happens when prenatal genetic screening gives you information you weren’t expecting?
In this episode of Discover Midwives, we sit down with Julie Knudsen, CNM, Assistant Professor with the Brown OBGYN Residency Program, to unpack one of the most complicated topics in prenatal care: cell-free DNA (cfDNA) testing, also known as NIPT or non-invasive prenatal screening.
Julie brings years of experience in birth centers, public health clinics, and hospital settings, along with her work on genetics education for midwives and her article on cell-free DNA testing. Together, we explore what midwives need to know to help clients make informed decisions about prenatal genetic screening.
We talk about:
• What cell-free DNA/NIPT actually tests, and what it doesn’t test• Why NIPT is considered a screening test, not a diagnostic test
• Trisomy 21 (Down syndrome), Trisomy 18, and Trisomy 13
• Why a positive screening result does NOT necessarily mean the baby has the condition
• False positives, placental mosaicism, and the importance of diagnostic follow-up
• What an “indeterminate” or “no-call” result can mean• Sex chromosome screening and some of the unexpected information families may receive
• How NIPT can influence birth planning, pregnancy decision-making, and emotional preparation
• Why more testing isn’t necessarily better testing
• The financial and emotional “cost” of prenatal genetic testing• Genetic privacy, and what happens to your DNA after testing
• Emerging uses of cell-free DNA, including fetal RhD testing• How genetic counseling and MFM consultation fit into the process
• Why shared decision-making is at the heart of midwifery care
One of the most important messages from this conversation is simple: a prenatal genetic test is not just a test. It is information, and people deserve to understand what that information could mean before deciding whether they want it. For midwives and other maternity care providers, this episode offers a practical framework for counseling clients without overwhelming them. For pregnant people and families, it provides a starting point for asking better questions and making decisions that align with their own values and circumstances. You don’t have to say yes just because a test is offered. And you don’t have to say no because you’re afraid of what you might learn. You deserve the information and support to make the decision that’s right for you.
Listen, subscribe, and share Discover Midwives with a pregnant person, midwife, student, or maternity care provider who could benefit from this conversation.
Keywords: NIPT, cell-free DNA, prenatal genetic testing, non-invasive prenatal testing, prenatal screening, Down syndrome, trisomy 21, trisomy 18, trisomy 13, amniocentesis, CVS, genetic counseling, midwife, midwifery, pregnancy, prenatal care, informed consent, shared decision-making, genetic privacy
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