High risk for trisomy 21 advice

[margaritaville7]

Hi guys

I'm 13 weeks pregnant with 2nd baby. I had my 12 week scan last week at UCLH, and was told that I had a 1:108 risk of trisomy 21 (Down's Syndrome). The sonographers were adamant the scan looked perfect but it was a case of my age (33) and measurements that threw out the results. We were a bit baffled and didn't really take it in at the time.

We decided to go for a CVS, and went in last week but they weren't able to do it because of the placenta being too far back. I opted for the NIPT blood test and don't expect to hear back for 10 days.

I did ask the consultant if she could elaborate on what "measurements" had thrown out the result but she was very vague and said it could be a number of things. The paperwork says the risk is based on "background risk, ultrasound factors and maternal serum biochemistry".

I was just wondering, can anybody advise what a "normal" nuchal measurement should be? Our results say 2.5mm - is this larger than average? Everything under fetal anatomy has been marked as "normal".

Obviously I'm not looking for a diagnosis, but would be interested if any docs or experts out there were able to elaborate a bit please? Or anyone else who's been through this?

Thanks xxx

[Rachey2711]

Hi margaritaville, sorry to hear you are in this position. I am 35 andI had a CVS last Wed, due to a high NT reading at my scan, which I had at 13+6. My NT was 4.6, I was under the impression that anything under 3.5 was normal. My bloods gave a 1:23 for downs. If you feel up to it I would push to know exactly which measurements have flagged this for you? If it helps at all, I got a call this arvo with the all clear for Downs, Edwards and Pataus. Still got to wait for the full results, and then a full heart scan at 17 weeks, plus an additional scan at 16 weeks for a cervix length something-or-other, then 'normal' anomaly scan at 20 weeks. It's a bloody rollercoaster. I have done a bit of reading, (internetting) and it does seem that chances of something being really wrong if the initial testing comes back clear are far reduced. I'm not going to say "try to stay positive" as frankly that drove me bloody mad whilst waiting for the results of my CVS. (took a week). I coped by concentrating on the fact that I was in extremely good hands and nothing could change the outcome now. I really do wish you all the best and can tora6lly sympathise with your situation.xxx

[weasledee]

Rachy,

If you don't mind me asking were the doctors very doom and gloom in your initial scan with that NT measurement? I got a measurement of 6mm last week and my bloods aren't good either. I'm waiting on a cvs.... I don't feel at all hopeful but was just wondering what they said to you? Thanks

[Rachey2711]

Hi weasledee, I don't mind you asking at all.x It was extremely fast, and that was what freaked me out the most. Sonographer told me the NT was high, we were asked to wait, then a lady (senoor midwife?! Not too sure) found us and told us about the CVS, and that they would try and get it done that day, but if they couldnt could I pls go to Southampton (about 45 miles from me) or London (about 60 miles) within the next two days? It was the rushing I found worrying. However, I actually now think it was fast due to how long along I was (13+6). I think the first lady we saw was quite re-assuring. The lady I spoke with today however wasn't very!! I honestly think that the behaviour of the dr/midwife etc doesnt always indicate any result or prognosis. I think they can sometimes forget the impact that thier words or tone or demeanour can have on us.x I was expecting a much more positive response today, bit when I asked if I cpuld tone down my worrying, she said "I dont think you can ever stop worrying when you are pregnant" not exactly words of comfort!!!

[Rachey2711]

Also, I had convinced myself todays results wouldnbe bad. I think that was my copong mechanism; if I thought it would be bad then a good result would be even better. Only real advice O can offer is that afyer reading quite a bit on the NT measurement, it isnt always bad. It sometimes doesnt mean anything is wrong at all. Folks seem to habe had far higher reeading then me, or you, and gone on to have perfectly healthy babies.xxc

[Muddywellies10]

Sorry don't know what a typical measurement is but I went through this (high risk 1:18) and opted for Nipt. Came back clear and my dc is a very healthy little boy now. I found Arc information very helpful during the wait for results. www.arc-uk.org/
I was told to do things that relax you whilst waiting, whatever that is (long bath/walk/reading) and try not to google too much (I failed on that one). Best of luck op.

[margaritaville7]

Thank you so much Rachey2711 - I just read out your message to DH and it has given us comfort. I am due to go back in on Friday for a 2nd attempt at a CVS, and I will push for more of a explanation as to what has led to the results. I am resolved to the fact that it's out of my hands, but the vague lack of explanation from the consultant is driving me bonkers! I absolutely agree with you about the demeanour of the sonographer/midwife. I honestly don't blame them, they're often run ragged, but their efficiency in dolling out results is often such that you're left feeling a tad overwhelmed (and in my case, in one ear and out the other) or in the dark. Mine were all relatively upbeat but I wouldn't read too much into it either way. When I was expecting my first child the sonographer gave me the good news that the scans/bloods were all positive in the style of someone reading me my last rites!!! All the best of luck with the rest of your pregnancy. When that little mite is in your arms in 26 weeks you'll be beyond happy and relieved. Let the next stage of worrying commence! xxx

weasledee - I wish you all the best of luck. As the sonographers and the consultant reiterated to me, the measurements and blood tests can help determine odds, but it doesn't always mean that there will be something wrong. Good luck for you CVS results xxx

Muddywellies10 - thank you, I will have a look into Arc tomorrow. At least it will detract from looking at unhelpful Google articles! Congratulations on your little boy and thanks for your comments xxx

[weasledee]

This is my third baby I can can honestly say the worse sonographer! She never showed me the baby till the very end and never gave us a due date (which I have interpreted as a bad sign.)
Then just said "baby has a higher than normal amount of fluid, you'll need more tests, thanks, the midwife will see you outside!"
And as I stood up in shock said "oh do I want a picture!?!" Awful experience.

[Phoenix76]

I completely relate with what you're going through. My ultra sound at 12 weeks also had "normal" plastered all over it. Then I took the optional Harmony test. It came back 99% high risk of trisomy 13. I was in the next day having a cvs in an utter state of panic and Google was not my friend during this! All the staff were amazing throughout the process. I was fortunate that the results came back the next evening as all clear but the worry and heart ache I'd endured was off the scale, I just could not stop crying. She's now 17 months upstairs asleep with no complications. I was 39 btw she was my second baby. It's great that they do all these tests but they can lead to a lot of unnecessary worry, best wishes.

[weasledee]

Wow Phoenix I'm shocked at the harmony test being wrong! You must have really thought there was no hope!
Glad you had a happy ending

[margaritaville7]

I've just had a call from UCLH and they've shifted my appt time so I'm with their most senior doctor as he's more experienced in doing CVS/amnios. I'm not going to read too much into it, but hopefully he'll be able to explain things in a bit more detail come Friday!

[Katiep0tato]

Hi margarita just commenting as I had a similar-ish experience. I measured 14+3 at my first scan so they couldn't do the combined test but bloods came back with a 1:72 risk of T21. I went in to feto-maternal medicine the next day to chat everything through with a midwife, including asking for an explanation of how the risk factor had been determined. All she or the doctor could say was that they thought it would be down to my age (36) - they didn't have normal HCG or Papp-A ranges so couldn't tell me how my results compared, just said that various factors including age, weight, height etc go into an algorithm which produces the result. We decided to go for an amnio, got the fast results back in 24 hours and thankfully all normal; the full panel took about 3 weeks and showed no signs of chromosomal abnormalities.

Was a really scary few weeks but a happy ending. Do try to stay away from Google, and all the best for your appointment tomorrow.

[Phoenix76]

Yes weasledee you've summed it up! I completely thought there was no hope and Google very kindly kept confirming it (as I said, Google was not my friend!). Went I went for my CVS they led us past the expectant parents who were waiting for their scans in to a tiny room with two very stern faced experts waiting for us. I just sat there crying while they were explaining what they were going to do. The consultant turned out to be amazing and as he was doing a scan at the same time as the procedure, he said I can see no markers for t13 so as far as I'm concerned waiting for the lab results is just a formality, of course I couldn't relax until I had the confirmation. Good luck for tomorrow margarita, for the experts it's just a regular event, for us it is all consuming so try not to read anything into their decisions regarding who you'll see, I was told I was seeing the lead consultant and saw that as bad but it was a positive thing. We'll all be thinking of you and giving you a virtual hand hold.

[margaritaville7]

Hi all

I got the all clear this evening. Harmony came back clear, as did the CVS results. So very much relieved. Bloody awful couple of weeks worrying. Thank you for all of your helpful and supportive messages over the past week or so. Mumsnet never fails to surprise with kindness.

I wish you all the best of luck with your respective pregnancies.

Xxxx

[Phoenix76]

That's fantastic news! The thank you for taking the time to update us. Hopefully you can enjoy the rest of your pregnancy, I only say hopefully as going through that made me extremely anxious for the rest of my pregnancy so look out for those signs and ask for help if that happens but it most likely won't!

[Rachey2711]

That's fabulous news margaritaville, congratulations xxx now try to relax and enjoy!x

[weasledee]

Great news! All the best for the future