Episode 5: Genetic Testing in Pregnancy

Special Guest: Dr. Margaret (Margie) Thorsen, MD In this episode of the Rhode to Pregnancy podcast, Malia and Ashley are joined by Dr. Margie Thorsen, an OB/GYN and Maternal-Fetal Medicine fellow at Women and Infants Hospital of Rhode Island, to break down genetic testing during early pregnancy. Together, they discuss the differences between screening and diagnostic tests, when each is offered, what kinds of conditions are typically screened for, and even what the “sneak peek” tests actually are. Dr. Thorsen shares her expertise on what happens when results come back positive, how to approach difficult decisions, and where expecting parents can turn for support. The hosts also highlight local Rhode Island resources and discuss the emotional side of navigating these choices. Key Topics Covered What is genetic testing in pregnancy? Screening vs. diagnostic testing: what’s the difference? When are these tests offered, and what do they detect? What happens if a result is positive or unclear? How do I decide whether to do genetic testing? What support is available for parents navigating these results? What are the options for follow-up or confirmatory testing? Emotional considerations and counseling during the process How to access genetic testing through Rhode Island healthcare Rhode Island Resources Mentioned Genetic Counseling & Prenatal Support Women & Infants Hospital Prenatal Genetic Counseling: https://www.womenandinfants.org/services/genetic-counseling Rhode Island Department of Health – Prenatal Screening: https://health.ri.gov/programs/detail.php?pgm_id=1061 Rhode Island Community Health Centers: https://rihca.org/chc/community-health-centers-in-ri    Support for Mothers Undergoing Genetic Testing & Families of Children with Disabilities Rhode Island Parent Information Network (RIPIN): https://ripin.org/ RIPIN Support Groups: https://ripin.org/support-groups-at-ripin/ Family Voices Resource Guide (RIPIN): https://ripin.org/ripin/wp-content/uploads/2019/11/FV-Resource-Guide-English-FINAL-10.28.2019.pdf Perspectives Corporation: https://www.perspectivescorporation.com/  Assistance Programs Family Service of Rhode Island: https://www.familyserviceri.org/programs/  Government Programs Early Intervention Program: Free services for infants and toddlers (birth to 3 years) with developmental delays or disabilities –  https://eohhs.ri.gov/Consumer/FamilieswithChildren/EarlyIntervention.aspx  Katie Beckett (TEFRA) Program: Medicaid coverage for children with significant disabilities who can be cared for at home – https://eohhs.ri.gov/Consumer/FamilieswithChildren/ChildrenwithSpecialNeeds/KatieBeckett.aspx  RIte Care: Medicaid coverage for children and families with special healthcare needs – https://eohhs.ri.gov/Consumer/FamilieswithChildren/RIteCare.aspx  Rhode Island Comprehensive Demonstration Waiver: Expands home and community-based services for eligible children and adults – https://www.medicaid.gov/medicaid/section-1115-demo/demonstration-and-waiver-list/83101  Child Care Assistance Program (CCAP): Helps eligible families cover child care costs – https://dhs.ri.gov/programs-and-services/child-care/child-care-assistance-program-ccap  Follow us on Instagram: @RhodetoPregnancy Enjoyed this episode? Please share it with friends and subscribe for more! Next episode: Nutrition in Pregnancy