Neural Tube Defect, Hearts are Breaking

Hi all, my husband and I have been going through a whirlwind of emotions the past 48 hours since we found out at our 20 week scan that our son’s head was misshapen and he has a neural tube defect near the end of his spine. With the location of the lesion being lower on the spine we are to expect both mobility and bowel functionally issues. With this the spine has fused to the skin, which pulls the brain and skull backward, leading to the misshapen head and blocking the flow of the fluid in the brain causing spina bifida with a chiari 2 malformation. If this continues to pull back it can lead to additional intellectual disabilities.

We’ve been through the amniocentesis procedure today and are planning to meet with a specialist in the next few days to discuss the potential for prenatal surgery to repair the hole in the neural tube and detach the spine from the skin to prevent the brain from being pulled back any further. This surgery would entail an incision similar to a C- section to perform surgery on my baby while still mostly being inside the womb. There are only a handful of facilities in the country that perform this surgery. The 2 locations in our state have only done tens of these surgeries. Other sites around the country have done hundreds, which still isn’t a comforting amount. If we do this prenatal surgery it will need to be between 24-28 weeks (giving us less than 4 weeks to plan and prepare). I would also then need to deliver via C-section at 37 weeks (only ~12 weeks later). With this surgery comes the risk of going into preterm labor and having an early delivery, which would completely counteract the surgery as baby wouldn’t have the additional time to heal and develop inside the womb.

In trying to gather all possible information we also were told we only had until 22 weeks 6 days to terminate the pregnancy if we decided to do so. All of this is happening so fast and we’re trying to navigate our options to choose what is right for our baby, my health, our family and my 17 month old son. This is an impossible decision to make. Has anyone been through anything similar? We’re young and healthy and never would have imagined such a thing would be in the cards for us. We would never wish this pain and emotional stress on anyone.

*Update 1*

I got a call with some test results from the amniotic fluid that was taken 2 days ago. There was a 1.5% trace of trisomy 18 found so they want to do additional testing on the fluid they already have. We’ll find out more later this coming week, but it is getting more and more complex and sounds like we may have less and less of a choice to make, unfortunately. I will update again after we learn more this week. Thank you all for the continued support.