Urgent help please! Chromosome 18 questions

Thanks so much everyone.
My BIL went back up to the hospital and spoke to the Dr and to a lovely, supportive midwife and got the results from both ultrasounds.

Correct procedures haven't been followed 3 times in regards to my sister :-(

Apparently the risk came back higher in the NT scan for Trisomy 18. Her risk is 1:108.
They have a referral for an amniocentesis so hopefully they will get in ASAP. They were told it would be 2 weeks before the results come back.
The Dr told my BIL that most trisomy bubs are stillborn between 20-24 weeks. My BIL is freaking out now that if bub does have T18 that it will be born before the results are back.

I'm just holding on to the thought that there is 107:108 chance that everything is going to be okay.

I've been having a bit of a meltdown myself. I'm sad for my sis & BIL. Sad that there might be something life threateningly wrong with my little niece and I am sad because it is bringing back so much of my own stuff to do with Noah. I never once dreamed I would be advising my sister on things like this. This is heartbreaking.


From my iPhone.

She needs to go to a tertiary hospital. T18 can only be diagnosed via amnio or birth. She can have an amnio anytime up to birth. Until that is done, everything is just supposition. She should also talk to a genetic counsellor, which can be provided at a larger hospital. As HotI said, some T18 babies are born alive.

If the baby does have T18 and someone knew and she wasnt advised earlier, then the hospital and/or doctors have been negligent. If baby does not have T18 and she's being put through this, then they are being negligent.

What she needs is to be referred to a Maternal Fetal Medicine unit at a tertiary hosital asap. If the doctors at her hospital dont do that then she can just show up herself.

ETA - we were posting at the same time. Hoping baby is fine. The staff at that hospital need a swift kick up the rear.

Lis, I don't have anything to add to what has already been said, but I wanted to send you this: :hug:

(Sorry, I checked BB when I first got your message but missed this post because I didn't check this section of the forum.)

Thanks so much Juniper. Your help has been so appreciated today xx

Thanks to everyone for your advice. Now I've just gotta keep everything crossed that my little niece is okay. Noah doesn't need another playmate, he has enough little angel friends, sadly :-(


From my iPhone.

Hugs to you and your sister and I hope the amnio results come back with good news! I'll be thinking of her :-)

:hug: My heart goes out to your sister, her DP, you and all the family. What terrible communication on the hospital/sonographers part. I really hope they can get the results back before baby is born. Lots of prayers coming :hug:

Can they do the FISH results where you pay about $200 more for results within 24 hours for T18. So sorry you are all going through this. xxxx

Lisa, what a horrible situation. I definitely agree with L&B in that someone has dropped the ball.

And she can ask for the FISH results for CVS (and maybe amino) - you pay more but you get results in 24-48 hours. Well worth it for peace of mind.

They were told they could get results back in a week but they'd not be accurate but the full results would be. I'm not sure as they all live 3+ hours away from me and I feel helpless right now. I don't know anything about amino as we chose not to have it with any of our bubs after Noah.


From my iPhone.

Just cyber hugs for you all.

:hug:


Sent from my iPhone, probably while a toddler sits on my head.

I have no advice but I couldn't read and not give you all a :hug:

The fast results are no less reliable than the long results. From my recollection they are different - it breaks the tests up into two parts - the FISH and the rest. I've had a CVS. The FISH test allows them to rule out the three main trisomy defects - 13, 18 and 21 from memory. It is something to do with these being the most commonly-occurring chromosomal abnormalities, they can grow the cells faster and know what to look for or something.

The full results then look at all the other possible chromosomal abnormalities and rule them out (or in).

She really needs to speak to someone more knowledgeable - I'm just going off my own experience. Can she speak to a genetic counsellor? Or an Obs somewhere else? Must be so tough for you being so far away :hug:

I might give JHH fetal & maternal medicine unit a call tomorrow and ask to speak with someone or even ask if someone can call my sister. I'm just glad my mum is there to help them all.

Thank you to everyone for the hugs and advice. It's all so appreciated xx


From my iPhone.

Amniocentesis is booked for 11am tomorrow. They're paying to get the FISH results which we were told would take up to 3 days.
Now I am just praying & wishing & keeping everything crossed in the hope that everything is perfectly fine.


From my iPhone.

Sending hugs.
Just did some research. It looks like the FISH test is available for amino as well as Cvs. It tests for the trisomy chromosomes 13, 18 and 21 and tells gender too. It is conclusive. We had results back In Under 24hours. It sounds like a fetal Medicine centre in a big hospital could support your sister and BIL better and give them the answers they seek.

Just wanted to send more :hug: my thoughts are with you and your sister

i had an amnio at 24 weeks with Jack, i didnt pay any extra for the results to come through quicker. i wastold 3days but i had the phone call with the results 24 hrs later.
keeping everything crossed for your sister that its just a horrible mix up and her precious baby is 100% aok xxxx