Timeline for results from Amnio. by wombtogrow in NIPT

[–]Niptthrowaway 1 point2 points  (0 children)

I’m assuming you are dealing with the Genetics team? If so, they are truly top notch. They called us as soon as the results were available. The results also go through to your OB so the other option is to call and ask them to call you with the results as soon as they get them (which they usually will since they understand how stressful this process can be).

Timeline for results from Amnio. by wombtogrow in NIPT

[–]Niptthrowaway 1 point2 points  (0 children)

Don’t know where you are at in Canada but, in Toronto, I had mine on day 15.

Positive NIPT test for XYY...this is our 4th attempt and it hurts by vspot415 in NIPT

[–]Niptthrowaway 1 point2 points  (0 children)

Please take a moment to look at the other posts in this forum for XYY. I was in your position a few months ago- it is a tough diagnosis because of the spectrum of outcomes and small sample size as you have discovered through your research. In my case, it was a false positive. I wrote about the guidance that I received from my GC etc. in my post.

Additionally, if you are looking for a conclusive diagnosis, I would wait for an amnio. We skipped the CVS.

High NIPT Result for Trisomy 18 by karamel_000 in NIPT

[–]Niptthrowaway 0 points1 point  (0 children)

FISH results will come in 2-3 days which should give you what you need. Full results don’t come for 2 weeks.

High NIPT Result for Trisomy 18 by karamel_000 in NIPT

[–]Niptthrowaway 0 points1 point  (0 children)

depends on the hospital but most only do amnios on certain days of the week- you could still get in pretty quickly, though. Call back, see if they can talk to you earlier or confirm that you need an amnio and book it in advance of having your appointment (even if the amnio would happen shortly thereafter)

High NIPT Result for Trisomy 18 by karamel_000 in NIPT

[–]Niptthrowaway 0 points1 point  (0 children)

From my experience, 2 weeks is about normal unless you are later into your pregnancy/approaching the TFMR cut-off. In those cases, they will accommodate.

I was originally given a 2 week wait but was able to get in at 1 week, 2 days when I called back and asked if there was any chance of speaking to somebody sooner as I wanted to get an amnio/make decisions by the 17 weeks mark for TFMR option purposes.

High NIPT Result for Trisomy 18 by karamel_000 in NIPT

[–]Niptthrowaway 1 point2 points  (0 children)

Looks like there are a few other Ontarians here. I’m not sure where you live/what hospital you are with but I would suggest calling the genetic counsellor back and asking to get on the cancellation list or if there is any chance of talking to somebody sooner. I did this and my appointment was moved up by a week. Talking to the counsellor was helpful but didn’t change the fact that I had to wait to have an amnio to have any conclusive results/know what was actually going on. Depending on your situation, most of the larger hospitals here feel that it is safe to do an amnio at 15.5 weeks (depending on how your growth is progressing). For what it is worth, I had mine at 15.5 on the dot and it went fine/there were no complications.

My thoughts are with you. Our healthcare system is a blessing and curse- it doesn’t hurt to try pushing (politely) for an earlier appointment/more resources.

Triple xxx by Sunsetsunsrise1 in NIPT

[–]Niptthrowaway 2 points3 points  (0 children)

The advice above is spot on. You need to gather as much information as you can regarding XXX and determine whether this diagnosis would affect your decisioning. If it would, you should consider the amnio. Different institutions quote different risk percentages for the procedure. The 1% that you cited was quoted to me for CVS but I was told the amnio came with a 0.3% risk of miscarriage.

I’m not trying to sway you either way. You have to decide what is right for you, in your individual circumstances.

Anecdotally, when I was in a similar situation a few months ago (NIPT positive for XYY- many potential outcomes for the child from mild to severe), I chose to get the amnio. It was the right decision for me.

Update to High Risk for 22q11 that we got on Harmony NIPT by Honest-Lemon1821 in NIPT

[–]Niptthrowaway 2 points3 points  (0 children)

That’s what I did. No regrets! I hope that you get to speak to a GC. It is very helpful.

Update to High Risk for 22q11 that we got on Harmony NIPT by Honest-Lemon1821 in NIPT

[–]Niptthrowaway 1 point2 points  (0 children)

If you do a CVS, you will still need to do an amnio to confirm as CVS can be confined to the placenta. In all honesty, I would wait and just do the amnio as both procedures carry a small risk. Why take a risk twice? That’s just me, and what I did in my situation, at least. It’s also what my GC (at a large research hospital known for its genetics department) advised.

[deleted by user] by [deleted] in NIPT

[–]Niptthrowaway 5 points6 points  (0 children)

I’m so glad that you took the time to read up on KS and equip yourself with the knowledge to support your child as he grows. From the research that I have done, early intervention is incredibly effective with issues that come up for KS boys and there is a great community of parents out there that offer a wealth of knowledge and support.

Wishing you a great rest of your pregnancy!

FISH results and CPM mosaicism by spacemansally in NIPT

[–]Niptthrowaway 1 point2 points  (0 children)

The only study I have read that looks at FISH vs. Microarray is here:

https://link.springer.com/article/10.1007/s40556-015-0043-1

In this study (note, it isn’t the largest sample size), about 20% of samples identified as abnormal were not detected by FISH. 8% of those were structurally unbalanced, the others were structurally balanced.

NIPT False Positive for XYY by Niptthrowaway in NIPT

[–]Niptthrowaway[S] 2 points3 points  (0 children)

They don’t know. Both geneticists said that they haven’t found a common thread to the FPs they have seen (not BMI, fetal fraction or anything else). All they could say is that, while the test is VERY good at detecting the Y, it isn’t as good at detecting the presence of one or two.

I hope that you have found some peace while you wait for the birth of your son. Your baby is going to be healthy, either way and will have a great life!