Abnormal anatomy scan :/ risk of trisomy 18
We got our anatomy scan done yesterday, I was 18 weeks 1 day. It was all great, baby boy was being extra stubborn and spent most of the scan standing on his head or facing away from us. We got to see him kicking and flipping around lots. After about and hour of fighting with the baby to try and see all that she needed to the sonogram tech told us sadly she couldn’t get to all of what she wanted to see but that since we have another scan and echocardiogram at 22weeks she wasn’t concerned and could see what was missed then.
The eco is being done because my fiancé has a decently serious heart condition and sadly heart problems run in his family, what he has is called tetralogy of fallot. It’s a lot to explain but if your curious I would suggest looking it up. The snowboarder Shaun Johnson was born with the same condition!
We ended up having wait ages for our doctor to come in after the scan. We were totally expecting to get the usual “everything is looking great and baby is healthy, see you again in a month”
Sadly that’s not what we got...our doctor came in and informed us they found three separate abnormalities. The baby has a very very tiny VSD, if you don’t know what that is it’s just a tiny pinhole between the two chambers of the heart. He also informed us the baby has a kidney that isn’t where it’s supposed to be and is what’s called a ‘pelvic kidney’. The last thing they found was a choroid plexus cyst on the babies brain.
He then went into to tell us that he fears the baby may have trisomy 18 and would recommend doing and amniocentesis to know for sure.
I was devastated.
The hole in his heart was the least shock to me just because we expected there was a decent change the baby would inherit some small defect from dads side.
But everything else I couldn’t believe.
We just got our genetic testing done last week and are still waiting on those results. If they come back with a risk for trisomy 18 we’ll go in at 28 weeks to do the amniocentesis. My fear with that test is that it can cause pregnancy loss and preterm labor, so I want to wait until the baby would at least be more viable in case that happened.
The doctor also wanted to move our echocardiogram up a week AND have the head of pediatric cardiology there to review everything. He even called the genetic testing facility to see if my results maybe came in a bit early but sadly they aren’t ready yet.
He assured us that right now the odds are more in our favor that the babies normal but with these three findings they want to be sure he doesn’t have trisomy 18. He also assured us the pelvic kidney was much less serious than what it sounds and that many people have this and never even know they do.
I’m terrified though. This is my first and it feels like all the excitement I had has just been ripped away from me. I suddenly don’t want to buy him anything and feel like I want to pump the brakes on any baby shower, gifts, or anything baby celebration related.
All I can think about is the possibility that he does have this and how if he does have it there’s a good chance I won’t get to love on my baby boy for more than a few hours after he’s born.
I’m so overwhelmed and emotionally exhausted. Part of me wants to risk doing the amniocentesis now just so that i can know for sure if he has trisomy 18 or not. Is it foolish of me to risk it? The specialist told me that with him doing it there’s about a 1 in 600 chance of pregnancy loss.
This week has been so intense and I’m hardly processing any of it, on Saturday I hit a deer in my brand new car my fiancé bought me, and that I’ve had for less than three weeks, ended up doing $5,200 in damages to it and won’t have my car for at least a month. Spent most of the night at the emergency room because I was terrified the baby got hurt but was reassured by all the nurses how great his heart sounded.
I interviewed for a new job the next day which was a stress of its own.
Monday we had an appointment with my regular OB and she was so impressed with his heart too so aid that he has a really strong little heart.
Tuesday we had our anatomy scan with the high risk and found out all of this.
Not to mention the normal exhaustion from being pregnant, I just want to cry.
I know this was a frickin book to read but if you read it all I just need some piece of mind. Have any of you had scares like this at your anatomy scan? Should I consider doing the amniocentesis now?? Or really any kind and calming words are so appreciated right now.
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