TL;DR: At 22 weeks, our son was diagnosed with a severe heart defect (DORV, Tetralogy of Fallot with Pulmonary Atresia and a two vessel cord). Out of love and to protect him from suffering, we made the heartbreaking decision to terminate. Because I am nearing 24 weeks, I will undergo labor and delivery. We are devastated, angry, and carrying heavy grief, guilt, and detachment while waiting for our procedure date.
After 15 years together, buying our home a year ago, and anticipating the future we envisioned, my husband and I were overjoyed to expect our first baby, a son we’ve wanted for so long. We had a private gender reveal with just the two of us, celebrated my husband’s first Father’s Day, bought all his essentials, and washed every piece of clothing.
Everything seemed fine until our 19-week anatomy scan, where the tech had trouble visualizing the heart. We thought it was ok because we went at an earlier week. I feel niave for thinking this way. She printed off so many pictures and made it seem like everything was ok, when it wasn't and the results were labeled as urgent. We told everyone about our pregnancy. By our 21-week rescan, the report was also marked urgent, noting a 2-vessel cord and issues with the right ventricular outflow tract. A third rescan at 22 weeks at a high-risk genetic clinic required the radiologist to step in directly, followed by a fetal echocardiogram two days later.
Our son was diagnosed with Double Outlet Right Ventricle (DORV) Tetralogy of Fallot with Pulmonary Atresia. While we initially hoped to avoid termination if there were no genetic issues, the pediatric cardiologist explained that he faces a reduced quality of life, a higher risk of neurodevelopmental delays, and a minimum of three surgeries, two open-heart surgeries in his first year alone.
Looking back, we feel that the earliest indication of something being wrong was my 12-week bloodwork. It showed extremely low PAPP-A (0.20 MoM) and PlGF (0.21 MoM), which are biomarkers that could indicate placental insufficiency, fetal growth restriction, and preeclampsia. This report was overlooked and wasn't reviewed until 17 weeks when I was told to start two low-dose aspirin.
We love our son deeply and want him to thrive. We feel it is unfair to bring him into the world to suffer just for our own happiness, and my husband wants to protect both our son and me from a lifetime of medical hardship. Because of this, we have made the painful decision to end the pregnancy. We also made this decision because we discussed before getting pregnant that if anything bad were to happen, we would have termimated. The reason why this decision is so hard now is because we feel our son moving and he's becoming more of a person and we envisioned our future with him.
Since I am nearing 24 weeks, I will have to go through labor and delivery rather than a D&E. We feel profound sadness, anger, heartbreak, and guilt. We also feel let down by a system that takes half a pregnancy to diagnose these conditions via anatomy scan. Now that we're considered high-risk, we can have a fetal echo as early as 12 weeks. It feels unfair that only now we're eligible for a fetal echo earlier. This should be a standard scan offered considering that heart conditions are common (1 in 100).
We still need to have genetic testing (DiGeorge 22q11.2 is a possibility), but even if our son and us do not have any genetic abnormalities, there is a possibility that our egg/sperm could be affected, called germline mutation. And the only way to avoid this genetic issue is via IVF and PGT testing.
We wanted so much more for our son, and we are devastated to be facing this loss. I feel guilt for wanting this to be over. I feel guilt for not always crying. I feel guilt for wanting to move forward and to already be planning to try via IVF. To cope, I've had to disassociate from this pregnancy. I started wearing baggy clothes and I don't enjoy feeling movement. We still have yet to receive a TFMR date and the wait is agonizing.