Episode
Ep. 119 Single-Gene NIPT Explained: Clinical Applications & Benefits with Dr. Andrei Rebarber
- Podcast
- BackTable Women's Health
- Published
- Jun 2, 2026
- Duration seconds
- 2553
- Processing state
not_requested- Canonical source
- https://traffic.megaphone.fm/BTL1058292618.mp3
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Summary
How do you decide which noninvasive prenatal testing option is best for your patient, and when should you reach for single-gene NIPT? In this episode of BackTable Women’s Health, host Dr. Nicole Faulkner interviews maternal-fetal medicine specialist Dr. Andrei Rebarber to break down the evolving world of prenatal genetic testing. They discuss the importance of pan-ethnic carrier screening, the clinical scenarios where single-gene NIPT is most useful, and how to navigate counseling and follow-up for a wide range of patients. --- Get the BackTable apphttps://www.backtable.com/app --- This podcast is supported by Naterahttps://www.natera.com/info/fetal-focus --- Timestamps 00:00 - Introduction04:43 - Prenatal Genetic Testing Basics07:10 - Larger Panel Screening Benefits10:49 - Defining Single-Gene NIPT14:51 - Counseling and Invasive Options18:26 - Accuracy Data and No Call Rate22:03 - Patient Acceptance of Test24:18 - When to Test and Screen26:13 - Counseling Carrier Results30:12 - In Utero Treatment 32:36 - Workflow for Generalists35:33 - How to Interpret Literature40:08 - Closing Remarks --- More about this episode Dr. Rebarber shares how witnessing in-utero transfusions for severe Rh disease inspired his career in OBGYN and maternal-fetal medicine, highlighting the importance of treating the fetus as a patient and the rapid growth of fetal therapy. The episode reviews ACOG-guided carrier screening for conditions like cystic fibrosis and hemoglobinopathies, the trend toward larger, pan-ethnic screening panels, and why carrier findings are common but true “double-carrier” couples are relatively rare. Dr. Rebarber also discusses the clinical utility of single-gene NIPT—a cell-free placental DNA test for select recessive conditions—especially when partner testing isn’t pos…