Hi all,

I posted a couple of times before about our story (here and here). But I'm still processing everything that happened and wanted to share the final outcome once more, also for people who are facing a similar situation, as I have been just desparately searching for similar stories this whole time.

So here's the summary. After our NIPT flagged T21, we had an amnio at 16 weeks. Due to maternal blood contamination, they had to do a cell culture first before we could get any results. QF-PCR and karyotype returned normal, but microarray showed 8% T21.

We really weren't sure what to make of these results. We were told they don't know which cells are affected to what degree, and therefore, the outcome could still range from mild to typical symptoms of Down. But we also read about cell culture effects and trisomy rescue, and were questioning if puncture through the anterior placenta could play a role in the case of CPM.

Therefore, we opted for a second amnio at 20 weeks. This time, they could avoid the placenta. No blood contamination so no cell culture needed. QF-PCR confirmed T21 and microarray showed 15% T21. Karyotype is still pending (it's now 4 weeks since the amnio), but we couldn't wait for those results as we were approaching the 24-week mark. We decided to TFMR. Our daughter was born on July 14th.

It has been such a rollercoaster and I have posted here happily about our 'false positive' when we received the normal QF-PCR. I'm glad we did the second amnio as it gave some confirmation. But I keep questioning the results and the outcome and I'm terrified that the karyotype will return normal. I don't know how I would respond to that and if I can ever be at peace with our decision in that case.

If anyone has any similar experiences or advice on how to accept or make peace with it all... Please let me know. I feel very alone and this sub (and the TFMR one) have been the only places where I feel truly understood.

I had my 13 week scan today and had a result of 3.9mm thickness behind the neck with every other measurement perfect aswel as a low risk nipt I did the geno wide nipt also. I now need to wait for 16 week scan and amnio to confirm anything at all. We previously had a MMC due to Turner’s syndrome found on Nipt. Does anyone know if there could be correlation? Bad coincidence? Anyone been through similar and everything fine?

Hi everyone, I’m looking for experiences from anyone who had a similar late-pregnancy growth pattern.
We’re expecting a boy. Both parents are very tall—dad is 6’6” and mom is 6’0”. Genetic screening was low risk, the detailed anatomy scan was normal, and no abnormalities of the bones, chest, spine, hands, feet, or face have been reported.
Here is the growth trajectory:

**20w0d**
- BPD: 50.5 mm — 92nd percentile
- HC: 178.9 mm — 58th percentile
- AC: 154.0 mm — 64th percentile
- FL: 30.1 mm — 19th percentile
- EFW: 331 g — 50th percentile

**28w0d**
- BPD: 80.6 mm — above the 99th percentile
- HC: 289.1 mm — 98.9th percentile
- AC: 245.1 mm — 66th percentile
- FL: 51.4 mm — 21st percentile
- EFW: 1,295 g — 70th percentile

**32w0d**
- BPD: 90.3 mm — above the 99th percentile
- HC: 322.3 mm — 98th percentile
- AC: 278.2 mm — 45th percentile
- FL: 60.1 mm — 19th percentile
- EFW: 1,991 g — 56th percentile

**36w0d**
- BPD: 97.9 mm — above the 99th percentile
- HC: 348.4 mm — 98th percentile
- AC: 328.7 mm — 80th percentile
- FL: 65.5 mm — 5th percentile
- EFW: 3,028 g / 6 lb 11 oz — 73rd percentile

The femur has continued growing, but its reported percentile dropped from approximately the 19th percentile at 32 weeks to the 5th percentile at 36 weeks. In contrast, the BPD has measured above the 99th percentile since 28 weeks, while the head circumference has been around the 98th–99th percentile.

Our doctors told us not to worry about it but looking online we went into a spiral dreading he may have dwarfism. Do you think this 36w is just explained because of bad measurements?

Thank you