CVS inconclusive for T21 (Down's) only

[BelleJolie]

Hello

I had a CVS recently due to high risk for T13/18 (Edward's/Patau's) - risk was 1:38 - and T21 (Down's) - 1:89. Original risk was based on low Papp-a (.29 MoM), single umbilical artery, and reverse flow in the ductus venosus. However, NT was low, beta hcg was fine, and nasal bone was present, which I've been clinging on to as good signs.

When I had a 2nd scan just prior to the CVS, the found an ARSA (apparently it's a vein the heart which is going around the esophagus the wrong way), which increased my risk of Down's 4-fold, so I'm guessing that would make it around 1:20 but they didn't officially recalculate it.

Prof Nicolaides did my CVS and he gave me the impression that he seemed to think Down's was a distinct possibility during the procedure.

I was hoping to be put out of my misery yesterday with the rapid results. The results came back clear for T13/18 (which is a relief) but inconclusive for Down's. I have to wait until the full karyotype results come in (torture).

Has anyone ever had this? I asked if this was due to mosaicism but she said they just couldn't get the results. I don't understand how they could get results for two clearly but not Down's. Makes me worry they found something but not enough to be certain, so didn't want to risk a false positive. Not that I have any idea about how they interpret these tests!

I know the real answer is just simply to wait for the final results but in the meantime I would like to hear from any others who have had a similar strange CVS result.

[daluze]

No direct experience, but handholding. At least with prof. Nicolaides on board you are in the best possible hands. Really wish you get the results you wish for!

[forago]

this happened to my friend a couple of years ago and it was placental mosaicism. The baby did not have an extra chromosome but the cells of the placenta did. She had no further issues in the pregnancy and the baby has no health concerns - she had extra monitoring of the health of the placenta though.

She had to wait a few more weeks after the extended CVS results came back to have an amnio to confirm all this as apaprenlty CVS isn't able to distinguish between placental and foetal cells. Good luck, horrible wait, I know.

[SaggyAndLucy]

I post here a fair bit, and I always say the same thing.
I've been where you are. I understand the horror and worry and the massive emotional stress that going though this causes. its huge right now and nothing helps but time. Really soon the will be sorted, you'll know one way or another.
Downs isn't so bad. You've rules out the horrors. Edwards and Patau are the real big ones. Downs just means a slight change of direction really.
My DD has DS. she is amazing, brave and funny and by far the easiest of my 3.
Just try and stay calm. Keep busy and most importantly keep your brain busy.
If I can be of any use, please feel free to PM me. x

[BelleJolie]

Thanks for your posts. We got the full results in today, baby has Down's. I was preparing myself for this news but nothing can prepare you really, can it. An amnio has been recommended to confirm but the Dr told me not to expect a different result ??

[pizdets]

Hi bellejolie I'm really sorry to hear your news. You're right, there is no way to prepare yourself and there's always hope on your heart that your baby will be healthy.

I can highly recommend giving ARC (antenatal results and choices) a call for advice whatever you feel you might do, they support hundreds of women through this kind of thing and gave me excellent support when we see in a similar position a few years ago.

Sending lots of hugs and thinking of you.

Piz