Amniocentesis taking a long time

[u/kaitbb]

Currently 20 weeks and 3 days. At 14 weeks our nipt came back high risk for trisomy 18. We got referred to a high risk doctor with a genetic counselor. They recommended the amniocentesis so we set it up at a hospital. We did that on October 2nd. Today is October 21st and we still don’t have answers.
We got our fish results back a few days after that said normal so they said he doesn’t have full trisomy 18 but could still have mosiac or partial so wait for full results.
I went back on the 16th and there was still no results, they said I should have them the 19th. The 19th comes and no results and they send me a message saying it should be back by the 21st. Well today comes and they call me saying the lab is backed up because there’s something different with the chromosome 18 and they wanted to grow more cells to look at and they thought they’d be ready to look at today and they weren’t so they’re hoping tomorrow. They also said if this doesn’t give them the answers their looking for that they want to do an additional test called the cma and when I look that up it says it can take another 2-3 weeks to process. Which feels ridiculous. Has anyone ever dealt with this? And how long did it end up taking? We’re getting so upset and frustrated because tomorrow marks 7 weeks that we’ve been going through this process and we still have no answers and it’s heartbreaking. It’s causing us so much stress and depression and we feel like we’re running out of time to make a decision.

[u/jocedun]

I’m so sorry you are in limbo, it’s very painful waiting for results. I ended up waiting a little over 4 weeks for my whole exome sequencing results after they told me 2-3 weeks. Each day is excruciating. Looking back, I wish I had a TFMR appointment on the books so that I didn’t have to wait to schedule once the results came in. It’s easy to cancel the procedure if you get good news. After I got my bad news, I had to wait another 2 weeks for the D&E due to availability.

[u/Bitter-Campaign-2523]

That is so tough. It's not quite the same thing but our microarray took about 7-8 weeks to come back. It failed the first time and they had to retry it after our TFMR (we made our decision in the meantime based off his worsening symptoms). They didn't think it would give us any answers (and it didn't) so I wasn't holding out hope for more information like it sounds like you are but gosh it sucked.

[u/kaitbb → u/Bitter-Campaign-2523]

Ugh I’m so sorry you went through that. They’ve said something about doing that test next, I’m hoping it doesn’t come to that and it’s not such a long wait. They did tell me on the 16th that the ultrasound looks better and some things improved. They also haven’t seen anything super concerning, just small things that they said could be on a healthy baby too so that is making it harder for us to make our decisions and be confident in them

[u/Bitter-Campaign-2523 → u/kaitbb]

Oof that's brutal. I thankfully was able to push to get the FISH, microarray, and whole exome done all at the same time.

[u/Littlebee416]

Mines different because my tests weren’t working out for different reasons… found increased NT sept 4. Tried to get CVS twice over the next two weeks, couldn’t due to SCH and where my blood vessels are located in my abdomen. Tried to go for amnio October 4 and couldn’t because my membranes weren’t fused. Went back the following week and everything with my body was good to go finally but the dr got called away for three emergent c sections, lol. Luckily finally got it done later that day, though. Now waiting for results for microarray although fish came back. Can you ask them what they found on chromosome 18 to ease your mind in the meantime? Do they have an expected day for results? I had them do a quad screening on me and measure nuchal fold while I waited because the wait was destroying my mental health but I’m not sure there’s much you can do at this point that will come back sooner than your results will.

[u/Kabby05]

I’m sorry, this is so frustrating. Were there any ultrasound markers? NT elevated?

I’d call and see if they can start running the CMA in parallel starting now and cancel it if it ends up being unneeded. Let the know that you are considering terminating and that time is a huge factor.

I’d also consider making a TMFR appointment now as you may run into waitlists. You can cancel it (happily) later if you don’t need it but you don’t want to be in a situation where you can’t get it done past a certain point (in your home state) and can’t get an appointment before then.

[u/kaitbb → u/Kabby05]

There were some things. Like a little fluid on the spine (but that seems to have gone away). Bowel and kidney were lighting up but on last ultrasound bowel was perfect, and kidney was working they said as he had made urine and then had a full bladder. They said the head shape was a little off only the first ultrasound at 14 weeks but that that could have been the angle of the ultrasound. Things that were small and could also be normal. I think it’s a good idea to go ahead and schedule an appointment as we can’t even do it in our home state anyways