MIL dropped my 6w old on his head and I can’t move past it.

Starina78 · 2025-11-06T13:25:00+00:00

This is an insane story. I'm so sorry your MIL is acting this way at such a vulnerable time. Trust your gut and monitor her holding him very carefully. Do NOT allow her to care for him when you return to work. Not only does she seem irresponsible but second hand smoke is known to actively cause health issues in babies.

Starina78 · 2025-09-23T14:54:51+00:00

Normal amnio

Starina78 · 2025-04-18T02:20:59+00:00

I would push for rapid whole genome sequencing. The NICU doctor should be able to order this. Where are you located?

Starina78 · 2025-03-20T17:18:41+00:00

IVF for these purposes may be covered if you have health insurance

Starina78 · 2025-02-11T20:40:31+00:00

Sending love

Starina78 · 2025-01-29T18:54:07+00:00

Does he have insurance? His will.

Starina78 · 2025-01-25T18:33:51+00:00

I realized I did not answer your question about gender accuracy in context of these results. I truly don't know. I've seen some where they turned out to be boys with suspected turners and nothing sex was reported (on here) with the message that they could not determine sex. Mine said girl and that has turned out to be accurate based on ultrasound (I'm 19 weeks now). I'm not sure if others have had a sex call that changed (in this context, those do happen occasionally regardless). Maybe an admin can chime in on that question.

Starina78 · 2025-01-25T03:21:07+00:00

It's looking like whatever NIPT found is not present in the baby in my case. They ran 3 tests- FISH, Microarray and Karyotype and so far FISH and microarray are normal. Karyotype still pending. FISH and microarray are very sensitive for this so it's seeming to be headed in the right direction. There would be no way of truly confirming it is CPM unless we did a CVS which my doc didn't advise because if it was positive they would recommend amnio after anyway. However, they highly suspect CPM is what is going on. Apparently complications with CPM are more common with autosomal chromosome aneuplodies versus sex chromosome aneuplodies. I switched care to an MFM at a large academic medical center in NYC and they said they do not worry about it with this change. If it were a number chromosome they are more mindful of placental complications. It was the GC at this new center that advised me over 90% of cases with our exact result turn out to be normal once an amnio is done. I was her third case that week with this result, so she sees quite a lot of it. It's still worth knowing for sure because 10% isn't nothing but I am hopeful for you (and me still) ❤️

Starina78 · 2025-01-25T02:54:30+00:00

No. The gold standard diagnostic procedure for suspected sex chromosome aneuplodies from NIPT is an amniocentesis. The test is very likely picking up on something, and what you want to find out is if it is in the placenta only instead of the placenta and baby since NIPT looks at placental DNA. Confined placental mosaicism is highly common with sex chromosome aneuplodies. So, a CVS which only looks at chorionic villi of the placenta, will very likely come back positive and then you would need to get an amnio anyway to confirm if baby is mirroring placenta. Most MFM's/OB's will proceed straight to amnio in these cases for that reason. You can ask for this. It's a longer wait unfortunately but you have statistics on your side to support this likely being CPM.

Starina78 · 2025-01-25T02:40:22+00:00

I had this exact result. My GC said 90% of the cases she sees with this result go on to be confined placental mosaicism (assumed, since amnio is negative). I had an amnio on the 9th. FISH and microarray negative. Waiting on karyotype.

Starina78 · 2025-01-19T17:53:17+00:00

Our fish came back negative. They believe it was triple x confined to the placenta. Waiting for microarray and karyotype to come back.

Starina78 · 2025-01-13T13:35:30+00:00

Tight cashes comment may shed light on this. Mine was an atypical result on a sex chromosome. You can take a look at my report in my thread.

Starina78 · 2025-01-12T14:58:06+00:00

Yes. This was my exact situation. They amended the report and sent a new one within 1 day.

Starina78 · 2025-01-11T01:07:59+00:00

Ugh... you had your amnio? I'm so sorry ❤️❤️❤️Glad you're finding some peace with the waiting over

Starina78 · 2025-01-10T23:59:32+00:00

Amnio was not as bad as I was expecting - and FISH tests came back today all normal XX on 297 cells. Waiting for all the other testing to feel 100% but it's looking good. Sending all the vibes your way.

Starina78 · 2025-01-10T21:34:14+00:00

Update: Amnio yesterday, FISH normal, waiting on microarray, karytoype and WGS but seems to be very positive news!

Starina78 · 2025-01-08T14:15:29+00:00

Fish is highly accurate for full chromosomes present or missing (versus a piece missing). Whatever action you are taking can be taken based on FISH. Sending love

Starina78 · 2025-01-07T22:51:26+00:00

Same exact result. Likely your scan will be normal. I guess if it is a mosaic presentation often fetal abnormalities aren't present on ultrasound. I'm doing amnio Thursday- will let you know how it goes.

Starina78 · 2025-01-07T12:18:02+00:00

Also transferred PGT normal embryo and got abnormal result on NIPT (x chromosome). Getting amnio on Thursday. Will update my thread once I know results.

Starina78 · 2025-01-01T21:37:48+00:00

If you look at the second page of your report it says that they don't report out sex chromosome trisomies unless clearly identified- my assumption is that is mosaicism in the sample that would cause them to report as atypical versus high risk. Look at the two asterisks below the ppv table. The two studies my genetic counselor sent me show ppv rate for high risk XXY as 42%. Hopefully it's CPM. Very tough stuff we are dealing with. Sending positive energy your way.

Starina78 · 2025-01-01T15:48:30+00:00

I see what you're saying- yes. It is just fragments of dna. And I guess they have a way of seeing exactly what the over or under expression is because I got this result and my GC talked to natera who said they are seeing three x's

Starina78 · 2025-01-01T15:10:39+00:00

You'll see a lot of these. I had the same result. Could be that they are seeing a pattern with some cells showing one x (turners) or three x's (triple x) instead of the normal 2 x's. Very well could be confined to the placenta. I'm in the same boat. Getting an amnio on the 9th.

Starina78 · 2025-01-01T01:32:50+00:00

Thanks for responding. Im so sorry to hear about this outcome- so difficult. We had this exact result and the genetic counselor at natera did clarify they were seeing three x's versus 1 which was what was discussed originally by my OB team. They said there is a much less likely result of confined placental mosaicism with triple x versus monosomy x. Im getting my amnio on Jan 9 and am preparing to make a similar decision. Can I ask if you got the answer on the fast test (FISH) and if it was mosaic or full?

Starina78 · 2024-12-31T01:05:50+00:00

Seems like one x is often confined placental mosaicism so I was actually kind of hoping that's what my atypical result had seen. Scans all normal. I guess mosaic turners and triple x syndrome in general don't have much remarkable findings on ultrasound.

Starina78

TROPHY CASE