#228 Trisomy 13 and Trisomy 18 with Divya Ramachandra

Update: One of our recurrent guests genetic counselor and fellow podcaster Laura Hercher had a couple important thoughts after listening to our episode we want to share. Laura has been a guest on Episodes 157 & 191 where she has shared her insight on abortion bans including Texas SB 8 and the overturn of Roe v. Wade.

“I understand the reasons for moving our language away from terms like ‘lethal’ or ‘incompatible with life’, but we are also now faced with multiple states where only a lethal anomaly or condition is considered grounds for a legal abortion (insurance coverage for the abortion may hinge on this as well).  And in fact, the language is so strict and the consequences so concerning that many institutions are basically turning down virtually all exceptions.  It's a giant mess.  So, not saying that it isn't important to tell the truth -- of course! But that term ‘lethality’ may need to remain in the conversation even when survival isn't out of the question.”

Thanks Laura for writing in and adding to our conversation and considerations with the complexities surrounding reproduction.

Our guest today is Divya Ramachandra, who is a genetic counselor and program coordinator in Chicago, practicing primarily in prenatal, pediatric, and inpatient genetics. In this episode, she provides us with a comprehensive overview of trisomy 13 (T13) and trisomy 18 (T18) and genetic counseling for these patient populations.

Divya presented at the National Society of Genetic Counselors’ Annual Conference this past fall titled “From Lethal to Life-Limiting: Paradigm Shift in Caring for Patients with Trisomy 13 or 18” which we covered in our NSGC 2022 recap episode (#212). She published her thesis in the Journal of Genetic Counseling on transitional challenges novice genetic counselors face after graduation. She has a strong interest in bioethics and serves on the Pediatrics Ethics Committee as well as the Genetics Ethics Service Line at her institution.

On This Episode We Discuss: 

Symptoms of T13/T18

Signs on ultrasound that a pregnancy may have T13/T18

Advice for healthcare providers and GCs on how to approach conversations with people who have a pregnancy with a high chance of T13/18

Decision making parents should review with a healthcare provider (delivery plans, feeding options, etc.) 

Moral distress and how to process this with patients

Why we should we shift our conversations from lethal to life-limiting

The term “quality of life”

How the health and survival of people with T13/18 has changed over the years

Most common causes of death for babies with T13/18

Interventions that can alter a baby’s survival

Postnatal care conferences and other resources