How can OBGYNs navigate the complexities of modern prenatal carrier screening? In this episode of BackTable Women’s Health, host Dr. Nicole Faulkner interviews Dr. Mary Kate LoPiccolo, a pediatrician and medical geneticist at Mount Sinai, to break down the essentials of prenatal carrier screening in OBGYN practice. They discuss what carrier screening is, when to order it, and how to manage and interpret results in real-world clinical settings.
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Timestamps
00:00 - Introduction 03:03 - Understanding Carrier Screening04:40 - Partner Testing: When and Why06:22 - Selecting the Right Panel Size08:27 - Managing Time Constraints and Making Referrals 10:52 - Pretest Counseling Essentials16:44 - Decoding Results and Effective Reporting 20:52 - Limits of OB Counseling26:19 - Navigating Common X-Linked Pitfalls 30:11 - Equity, Costs, and Over-Testing36:11 - Tele-Genetics and Lab Resources43:43 - Final Takeaways
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More about this episode
Dr. LoPiccolo reviews the evolution from Tay-Sachs screening in Ashkenazi Jewish populations to today’s pan-ethnic expanded panels, emphasizing carrier screening as a blood-based screening test for recessive and X-linked conditions ideally performed preconception and for both partners. The conversation covers panel size selection, best practices for pre-test counseling, common pitfalls with X-linked results, documentation and report interpretation, cost and equity barriers, and the value of referrals, telegenetics, lab genetic counselors, and resources like GeneReviews to optimize care.
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Resources
GeneReviews - https://www.ncbi.nlm.nih.gov/books/NBK1116/
Open Evidence - https://www.openevidence.com/
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