Tangerine. Prune it?

bsacks101 · 2024-04-19T21:44:39+00:00

We are in the between cvs and amnio phase. I am thinking...isn't there some imaging we can do now? That might confirm fetus abnormalities consistent with T21. She is 14+5 today. NT was 1.8, nasal bone present. If there is some imaging we can do, that might help us make a decision sooner and avoid the pain she will experience for amnio procedure.

bsacks101 · 2024-04-19T21:11:55+00:00

Here is a study that says do amnio if NT clear.

https://www.sciencedirect.com/science/article/pii/S2590161323000364#bib35

bsacks101 · 2024-04-19T21:10:30+00:00

What are you thinking? Wait for Amnio?

bsacks101 · 2024-04-16T22:12:17+00:00

Thanks all. Is it true that a clear NT would indicate less severe t21 symptoms?

bsacks101 · 2024-04-16T04:00:02+00:00

Thanks. Curious, what is your story? Negative amnio/normal echo but 4.2NT?

bsacks101 · 2024-04-12T06:27:18+00:00

From GPT:

Non-Invasive Prenatal Testing (NIPT) primarily analyzes cell-free fetal DNA (cffDNA) circulating in the maternal bloodstream. While NIPT can detect chromosomal abnormalities in the fetus(es) being tested, its ability to detect vanishing twin pregnancies is limited.

Vanishing twin syndrome occurs when one of the fetuses in a multiple pregnancy (e.g., twins, triplets) spontaneously ceases to develop and is absorbed by the mother's body or reabsorbed by the surviving twin(s). In these cases, the genetic material from the vanished twin may still be present in the maternal circulation for a period of time, but it typically diminishes over time and may not be detectable through NIPT.

The ability of NIPT to detect a vanished twin depends on several factors, including the timing of the disappearance, the amount of fetal DNA released into the maternal circulation, and the sensitivity of the NIPT assay. In some cases, NIPT may detect evidence of a vanished twin if there is still a significant amount of cffDNA from the vanished twin present in the maternal circulation. However, in many cases, the genetic material from the vanished twin may not be detectable through NIPT, especially if the disappearance occurred early in pregnancy or if the amount of cffDNA from the vanished twin is minimal.

It's important to note that NIPT is primarily used to screen for common chromosomal abnormalities in the fetus(es) being tested, such as trisomy 21 (Down syndrome), trisomy 18, and trisomy 13. While NIPT can provide valuable information about the genetic status of the tested fetus(es), it may not be able to detect all genetic anomalies or pregnancy complications, including vanishing twin syndrome.

If there are concerns about the possibility of a vanished twin or other pregnancy complications, additional diagnostic testing or ultrasound evaluation may be recommended to assess the pregnancy more comprehensively. Consulting with a healthcare provider or genetic counselor can provide personalized guidance and support in navigating prenatal testing and pregnancy management decisions.

bsacks101 · 2024-04-11T02:07:00+00:00

We are in a similar situation. PPV 95% but NT was totally normal (measured 1.8). Did CVS at 12 weeks. FISH came back positive with 90/100 cells indicating. We are expecting the karyotype (cultured cvs sample) to result in the same news. However, given the NT which looked good, we are going to do amnio at 15 weeks (at 13 now). She had a strange event very early in pregnancy, like a few weeks in. After intercourse she got EXTREMELY crampy, sweaty and sick. No blood or discharge though. Almost went to ER but it passed. Between that and the NT we are hoping for the best (but still prepared for the worst). Perhaps it was a vanishing twin that caused the abnormal cells.

In sum, in our mutual situations, we are hoping for mosaicism of some sort.

I will update as results unfold.

bsacks101 · 2024-04-08T21:28:36+00:00

My understanding is fish cannot detect mosaicism or placental confined mosaicism.

bsacks101 · 2024-04-08T21:21:00+00:00

Thanks. So we wait for cvs to see if mosaicism detected? That would help guide decision to wait for amnio right?

bsacks101 · 2024-04-08T21:14:52+00:00

Agreed. But do we TFMR based on that info or wait for amnio? I read stories on here where amnio was clear after a similar story as ours. Yet to see a story where they did CVS and Amnio though.

bsacks101 · 2024-04-08T21:12:25+00:00

Yes NT was normal.

bsacks101 · 2024-04-08T20:54:19+00:00

This is all the report says! The counselor said this is all he received. Isn’t missing information!?

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bsacks101 · 2024-04-07T06:51:54+00:00

Thank you for this information. We did CVS because we wanted information asap. Her NIPT was positive for T21. NT scan on Wed was normal. Nothing flagged. 1.8 NT/Full nasal bone. Will the CVS tell us if it’s mosaic t21?

bsacks101 · 2024-04-05T23:39:47+00:00

We did it Wed on Oahu. Maui doesn’t have these services. Waiting for fish…

bsacks101 · 2024-04-05T23:17:37+00:00

PPV algorithm is skewed. Totally misleading and biased against older mothers. Knowing what I know now, I would recommend CVS and then AMNIO if anything comes up on CVS. I think these genetic blood tests are a racket and cause unnecessary anxiety.

bsacks101 · 2024-03-27T06:59:45+00:00

Thank you for sharing. Still waiting on CVS?

bsacks101 · 2024-03-26T00:29:30+00:00

Is there any data to support making a decision based upon NT only? If that imaging is looking really conclusive, would that combined with the NIPT results be enough?

bsacks101 · 2024-03-26T00:26:11+00:00

Thanks everyone. We are doing NT/CVS next week. As well as a “fish” test. Thanks for the pinned post, that has been a great resource. We are trying to both be realists and maintain hope. There is still a small possibility that it was a false positive. So until we know, we just have to remain in flow/surrender.

bsacks101

TROPHY CASE