#368 Mock Prenatal Genetic Counseling Session: Increased Nuchal Translucency

This is our fifth installment in our Mock Genetic Counseling Session Series! In this episode, prenatal genetic counselor Brittany Gancarz and student Victoria Russo perform a mock genetic counseling session. The session indication is an abnormal ultrasound finding of an increased nuchal translucency. 

This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction. 

We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.

The Actors:

Victoria Russo (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Russo is a graduate of Northeastern University with a B.S. in Cell/Cellular and Molecular Biology. The premise of this mock case was Russo’s work as part of her internship with DNA Today.

 

Brittany Gancarz, MS, LCGC (she/her) practices as the lead prenatal genetic counselor at UConn Health, where she sees patients for a wide variety of pregnancy and preconception indications. She enjoys working as part of the healthcare team with many other skilled professionals in the Maternal Fetal Medicine department. Gancarz’s genetic counseling interests include prenatal diagnosis, cell-free DNA testing, carrier screening, ultrasound anomalies, preimplantation genetic diagnosis, and perinatal palliative care. Gancarz is on the Board of Directors for the Connecticut Genetic Counselor Association. She was awarded Bay Path University's Genetic Counseling Program’s Outstanding Clinical Supervisor of the Year. Brittany graduated from Colby College in 2010 with a Bachelor of Arts, majoring in Biology and minoring Creative Writing, and completed her master’s degree in Human Genetics at the Joan H. Marks Program in Human Genetics at Sarah Lawrence College. 

Mock Cardiac Genetic Counseling Session Outline

Session Indication: 

The patient is Kylie who is a 29 year old female who is experiencing her first pregnancy (G1P0). She is currently 13 weeks gestation and on her last ultrasound had an increased nuchal translucency measurement (3.7 mm), so her OB/GYN referred her to a genetic counselor. 

• Contracting
  • Brittany introduces herself as the genetic counselor and confirms the referral reason.
  • The patient, Kylie, shares her understanding of the ultrasound findings and her lack of knowledge about genetic counseling.
• Explanation of Ultrasound Findings
  • Discussion of the nuchal translucency (NT) measurement and its implications.
  • Explanation of the potential genetic conditions associated with increased NT.
• Screening and Testing Options
  • Overview of non-invasive prenatal testing (NIPT) and its capabilities.
  • Discussion of diagnostic testing options: CVS and amniocentesis, including their procedures, risks, and timing.
• Family History and Genetic Concerns
  • Exploration of family history for genetic conditions or concerns.
  • Discussion of Factor V Leiden and its implications.
• Decision-Making and Next Steps
  • Discussion of the patient's feelings and decision-mak