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Please help - 3.5mm nt and normal bloods but v. high risk?

(26 Posts)
primarynoodle Tue 05-Jan-16 17:17:40

Hi, we had a tfmr at 13w due to a lethal diagnosis of complete hydrops and a cystic hygroma back in august. My nt was 5.5mm and had grown to 6.9mm within days. We had a post mortem which confirmed no chromosome problems but baby was too little to test for everything else.

Fast forward to now, just had risk result back as follows:

Chance t21 = 1:13
NT measurement = 3.48mm
Papp A= 0.55
HcG = 0.92

Midwife says bloods look ok but the nt will have made the risk higher - top consultant sonographer found no obvious structural problems but we're only 12 weeks.
Does anyone understand these blood measurements? Midwife said they were normal but ive just looked up the papp a which seems very low

Surely whatever happened last time is happening again and causing the same problems?!

primarynoodle Wed 06-Jan-16 17:25:12

Please anyone have any experience? However (ir)relevant?

Snoopysimaginaryfriend Wed 06-Jan-16 19:22:25

primarynoodle I'm sorry I don't have any experience of your situation but I have had three miscarriages ttc my first. I just didn't want your post to go unanswered.

Have you got any follow up scans or any further testing arranged? Did the consultant hve any advise about what happens next?

Footle Wed 06-Jan-16 19:27:23

I can't help, I know nothing , but I'm sorry you are having such an anxious time. Bumping in the hope some else will have something helpful to say.

Tollygunge Wed 06-Jan-16 19:29:40

3.5 is cut off point, so you're high end of normal. Why not have panorama test? Or cvs?

GoodStuffAnnie Wed 06-Jan-16 19:34:08

I didn't know what a lot of your post meant so I did some reading.

I found this thread

Your 0.55 doesn't seem that low according to that thread.

Also, I have and have had cystic hygromas. Is this something that is automatically tested for now? I'm fine btw.

primarynoodle Wed 06-Jan-16 20:16:30

Sorry its been such a rollercoaster i dont know where to begin.

My daughter was born still at 13 weeks in august after a cystic hygroma and hydrops were detected at 12 week scan, we had a postmortem that came back clear for chromosome problems but other organs werent tested because she was too small.

Now at the 12w scan for new pregnancy the baby showed a nt between 2.8-3.5, had a nasal bone and all other things looked good and sonographer seemed quite passive about the measurement but now the risk has come back 1:13 after (what seems to be) fairly ok bloods? Also am only 22 so my risk should be really low...

Basically i am asking if 1:13 risk in this situation is much more bleak than it sounds because of the previous problems and given my age?? Is it likely to be linked to whatever caused the hygroma last time?

I know its quite a specific issue but i dont know what to do or who to ask... everyone medical seems reluctant to answer my questions..

I have a 16w scan already booked and have added an amnio to that appointment now but its 3 weeks away.

I just dont know how im going to cope with 2 dead children in the space of 6 months and the prospect of never being able to have a healthy baby.

Mrspopper Fri 08-Jan-16 13:00:25

Hello. In my first pregnancy I had almost identical to you. NT 3.5 and 1:13 odds. I decided to have an amnio, all was clear. So hopefully that's a positive story for you. I know how tough it is. X

amysmummy12345 Mon 11-Jan-16 16:32:48

My nt was 3.7 and 1:5 risk, cvs came back clear and now waiting on 20 week anomaly scan and detailed heart scan, good luck op, keep us posted xxx

primarynoodle Tue 12-Jan-16 07:26:50

Thanks amy and mrs popper.. were your bloods off too? From everything ive read about downs my bloods dont seem to indicate it?

Am assuming the edwards/pataus risk is quite small as they didnt mention them? This waiting game is horrendous, i don't want to get my hopes up and then end up losing another baby sad

amysmummy12345 Tue 12-Jan-16 08:39:17

My hospital didn't actually give me the numerical blood results, just that bloods, nt and age combined gave me 1:5 risk... Fingers crossed for you xx

primarynoodle Thu 28-Jan-16 07:29:49

Have the amnio today absolutely terrified!!!! sad

KittyandTeal Fri 29-Jan-16 18:08:50

How was the amnio lovely? I remember it being a very strange sensation.

As far as I know high risk for T21 from bloods is usually not an automatic high risk for t13 or t18 as the hormone levels as a soft marker are different for them.

Will you get 48hour rapid results?

primarynoodle Fri 29-Jan-16 18:24:52

Cant avtually believe im writing this but they must have hugely prioritised my results as i got a call at 3pm earlier and its come back negative for t13/18/21.
I cant describe my relief!!

Also had a detailed 16 week scan with consultant and as far as she can tell everything looks great so far.

Still a part of me waiting for the next bit of bad news - im not used to good news! But i can now pass my daughters due date next week knowing things are looking good for her brother/sister.

How are you coping kitty? You are so kind to be supporting other ladies after everything you have been through, i have been thinking of you x

KittyandTeal Sat 30-Jan-16 08:31:13

That's great news! And really fast. Brilliant.

I'm ok thanks. Pregnant again so back in the testing system which is scary but generally ok atm thanks.

primarynoodle Sat 30-Jan-16 13:34:37

Oh wow kitty thats fantastic and so quick! Keeping absolutely everything crossed for you!! flowers

KittyandTeal Sat 30-Jan-16 17:15:42

Thanks, very early days but we're keeping everything crossed

primarynoodle Tue 01-Mar-16 20:22:05

Just a quick update for future mums with similar results... had 20 week scan 2 weeks ago and everything looked fine except baby is measuring a little small (but still well within normal range)

So so far so good... hope this provides reassurance for someone else in future. Hopefully i can come back in 18 weeks with a happy ending!

SirVixofVixHall Tue 01-Mar-16 20:26:40

Such good news, thanks for the update, really happy for you that all is going so well.

fermerswife Wed 02-Mar-16 19:25:45

Just catching your thread now but lovely to read the great news that everything is going well. All the best for the rest of your pregnancy!

KittyandTeal Thu 03-Mar-16 18:22:32

I'm really sorry you're going through this.

I also had a tfmr at 22 weeks after a T18 diagnosis.

In this pregnancy I have had the harmony done which as come back negative. I also had the combines bloods done and my Papp a is almost exactly the same as yours.

While dd2 was being diagnosed the consultant at Kings told us the tell tale sign for t13 and 18 is low hcg and low Papp a. He said t21 tends to be low Papp a and high hcg but that the hcg is generally double that of the Papp a.

Have they offers you a cvs? A less incasive route would be a nipty test which are generally about 99% accurate for t21. It depends on what you would do with the information or diagnosis

KittyandTeal Thu 03-Mar-16 18:23:35

That will show me to rtft!

Great news noodle grin

primarynoodle Fri 08-Jul-16 02:50:47

Updating again - healthy, happy baby girl delivered on 4th july. Passed all health checks so far no problems and nobody has any concerns.

Really hope this thread brings comfort to any other mums facing similar shit stats - there is hope!

Jodie242 Fri 08-Jul-16 13:28:32

Lovely update, congratulations xxx

KittyandTeal Sat 09-Jul-16 12:55:22

Congratulations noodle. I'm so pleased for you flowers

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