Severe abnormalities

blessdtxas · July 2016

Hi, I posted here a few weeks ago after an abnormal NT scan (4.4 mm). Had the Qnatal and everything came back clear. We had the anatomy scan and they found several abnormalities including a heart defect, a cyst on the brain, enlarged ventricles of the brain and wide set eyes. The baby did have a nasal bone, good growth and heartbeat and was very active (dh just felt him move for the first time too) and didn't have clenched fists or a cleft lip/palate.

The abnormalities were described as severe and serious. The OB mentioned that I'm still young (implying I can have another after this.). We're scheduled for a level II us this week. I'm on the fence about amnio.

I'm losing hope for my son. We will not choose to terminate but am feeling overwhelmed by all the what ifs. I'm wondering if I'm the .01% that the screening is wrong for (I know its not diagnostic), if its something more rare, or not genetic at all. My husband was born with a heart defect and ive heard cysts are common and could resolve. I think having multiple servere abnormalities is where my hope goes out the door.

Not sure if anyone has been through something similar? I haven't found many relatable stories.

Sarafuss · July 2016

I'm sorry you received unfortunate news at your anatomy scan. I posted on your high NT post back in May. My story isn't encouraging but I do have experience with rare genetic disorders. After the high NT measurement we had the Panorama blood work done and all came back normal. After seeing some physical abnormalities on u/s we felt that we wanted to have an amnio done. At the time I was concerned about the risk of losing the pregnancy before term and if the baby was healthy I would have just felt terrible. So we decided to have an amnio done around 34/35 weeks so we would be prepared for any diagnosis before birth. She ended up having Cri du Chat and a very severe case at that. If you are certain you won't terminate then I think waiting until closer to term to have an amnio is a good idea. I'm glad we made the decisions that we did. I'm sure her birth would have been even more traumatic than it was if I hadn't known beforehand what her diagnosis was.

blessdtxas · July 2016

@Sarafuss thanks for taking the time to respond again. How did you deal with the waiting? How did you or did you prepare at home? I planned on getting new furniture and washing all my son's newborn clothes to get ready for this baby and now I don't know what to do.

Sarafuss · July 2016

We were just kind of hoping for the best and preparing to bring a baby home. The physical abnormalities weren't as pronounced on ultrasound so I guess I was just living in denial a little? She had two large holes in her heart but those weren't seen at the fetal echo or any u/s because of their locations. And her small chin and brain structure abnormalities weren't really discussed with me until the appt before the amnio when the genetic counselor said they were noted in the u/s reports.

The wait for the amnio results was 7 days. The FISH results that we received in 3 days came back normal but the full results showed the large deletion of her 5th chromosome. We only knew of her diagnosis for about a week and a half before she was born. It didn't leave a lot of time for things to "sink in" but I remember being a mess for that time. I just wanted to see her and have answers to all of the unknowns. I don't regret preparing for her and buying things. Ultimately we didn't get to bring her home but I think it would have been harder to not have hope that we would. If that makes sense.

We we also knew that she wouldn't be our last baby, no matter the outcome. So anything we bought we would use for a future baby (and we have for this baby due in August). I know how hard the uncertainty is. Feel free to ask me anything! I'll be praying for you and your sweet baby boy.

sqfibemom · August 2016

DD - Sorry I just saw your other post and didn't feel mine was helpful

Hugs

nowakjamie6 · August 2016

I just saw this post but please don't be worried. I am currently dealing with a relatable situation as my baby has probably triple the amount of defects your dealing with. My baby does have a heart defect which is easily resolved. They've been fixing hearts for decades..also a cyst can resolve. My baby had one on his kidney one day and went away the next like magic right. Also I do recommend the amnio I did it and found out so many more answers which also calmed me down about everything

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