Season 2 Episode 4: Diagnostic Genetic Testing

SHOW NOTES Season 2 Episode 4: Diagnostic Genetic Testing Hosts: Ashley & Malia Special Guest: Dr. Margie Thorsen, MD Episode Summary In this episode of Rhode to Pregnancy, Ashley and Malia welcome maternal–fetal medicine specialist Dr. Margie Thorsen to explain what happens after a positive prenatal screening result. They review how care teams and genetic counsellors support patients, discuss the differences between diagnostic tests like CVS and amniocentesis, and explore the benefits, risks, and decision-making factors involved. Dr. Thorsen also covers coping with difficult news, understanding inconclusive or unexpected results, and learning what options and resources exist in Rhode Island. The episode highlights the role of ultrasounds, especially the mid-pregnancy anatomy scan, in genetic evaluation and offers reassurance and practical advice for managing anxiety during waiting periods. Key Topics Covered What happens after receiving a positive prenatal screening result Roles of the care team and genetic counselors Diagnostic testing options: chorionic villus sampling (CVS) and amniocentesis How each diagnostic test works and when it can be done Benefits and risks of diagnostic testing Factors that guide choosing between CVS and amniocentesis Options for patients who decline diagnostic testing Coping with difficult or unexpected results Understanding inconclusive or borderline results Overview of Rhode Island-specific resources and patient options Role of ultrasound, including the 18-22 week anatomy scan, in genetic evaluation Counseling when screenings show increased risk, but ultrasounds are normal Advice for managing anxiety during waiting periods Important Links & Sources RIPIN: https://ripin.org/about/ Family Services of RI: https://www.familyserviceri.org/programs/ Early Intervention Program: https://eohhs.ri.gov/Consumer/FamilieswithChildren/EarlyIntervention.aspx Katie Beckett Program: https://eohhs.ri.gov/Consumer/FamilieswithChildren/ChildrenwithSpecialNeeds/KatieBeckett.aspx Easterseals RI: https://morc.easterseals.com/ Perspectives Corporation: https://www.perspectivescorporation.com/  Seven Hills Foundation: https://www.sevenhills.org/ Follow us on Instagram: @RhodetoPregnancy  💛 Enjoyed this episode? Share it with a friend and subscribe for more pregnancy insights!