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.

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This podcast is supported by

Natera
https://www.natera.com/info/fetal-focus

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Timestamps

00:00 - Introduction
04:43 - Prenatal Genetic Testing Basics
07:10 - Larger Panel Screening Benefits
10:49 - Defining Single-Gene NIPT
14:51 - Counseling and Invasive Options
18:26 - Accuracy Data and No Call Rate
22:03 - Patient Acceptance of Test
24:18 - When to Test and Screen
26:13 - Counseling Carrier Results
30:12 - In Utero Treatment
32:36 - Workflow for Generalists
35:33 - How to Interpret Literature
40:08 - Closing Remarks

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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 possible or when patients wish to avoid invasive procedures. The conversation compares screening and diagnostic strategies, including CVS and amniocentesis, and provides practical insight into interpreting test performance and emerging research.

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Resources

EXpanding Prenatal Cell Free DNA Screening Across moNogenic Disorders (EXPAND)
https://clinicaltrials.gov/study/NCT06808880?tab=study

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