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1 in 25 risk of Down's Syndrome, should this actually have been higher given the evidence?

(5 Posts)
SarSc78 Fri 17-Jul-15 16:52:55

Hi everyone

This is my first post on this board and I'm feeling quite anxious at the moment as I'm waiting for my Panorama test results.

Last week I had the 12 week screening test and the midwife rang me two days later, saying my risk of Down's Syndrome was 1 in 25. This was based on:

my hcgb level - 2.97MoM (should be 1)
the NT - 2.9mm (higher end of 'normal')
my age (just turned 37)

Of course, I was in shock after that conversation. I have type one diabetes and have been working so hard to keep my sugar levels perfect, had been taking folic acid for months before we even started trying to conceive and, well, this was just a huge blow.

Rather than have CVS or wait weeks for amnio, my husband and I opted for the non-invasive Panorama test so we went to a private clinic last Saturday and I had the blood test while my husband did a mouth swab. I felt slightly more encouraged after the sonographer said "Everything looks fine" during the ultrasound. I asked about the nasal bone and he just said: "The Panorama test will give you an accurate result. Good luck!"

The baby seems to be growing OK but, having watched the DVD at 13 weeks, he/she does seem to have lower set ears that stick out, a small mouth and a squishy nose. You can't even see the nose on the ultrasound printouts. Nothing was said about the nose during the 12 week scan. I don't know. The more time goes on, the more convinced I am that our baby has Down's Syndrome.

I appreciate I should just sit tight and wait for the results (which should hopefully not be too far away - usually about nine calendar days so Monday) but I guess I just need a bit of reassurance, if possible. There have been a few threads on here where people have spoken about their 1 in 25 risk and things have turned out OK. This is hugely reassuring to read. I think the thing that concerns me most is my high hcgb level. I'm wondering if my diabetes could have had any effect on it?

Has anyone else had a similar hcgb reading and nuchal fold measurement? Could the lower set ears simply be a family trait (i.e my dad's ears!?!). My husband keeps saying everything will be fine and the odds are in our favour but the more Googling I do, the more anxious I become. Yes, I know, I will step away from Google now!

firsttimer08 Fri 17-Jul-15 18:03:21

Hi there

I wouldn't read too much into the scan photos. We couldn't see nasal bone at 12wk scan either but went privately and they seemed to think the bone was there. So it can all depend on the sonographer at this stage.

I would wait for the panorama test because that is nearly 99% accurate as I understand.

I know it is an anxious time and I am in a similar position (unfortunately my harmony test failed twice) - but hopefully it give you some clarity and good news soon!

SarSc78 Fri 17-Jul-15 19:05:46

Thanks for your reply. Yes, I'm sure something would have been said if there was definitely no nasal bone. The hospital sonographer who did the initial measurements was a trainee but she was supervised by a senior.

Aagh, sorry to hear your Harmony test failed twice - how frustrating! Let's hope you hear some good news soon too. I'm kind of hoping I hear something tomorrow but it's more likely to be Monday.

SaggyAndLucy Sat 18-Jul-15 02:13:24

My DD has DS and has a nasal bone and perfectly "normal" ears and jaw.
Please don't put any store by what you think you see.
We were told that anything below 3.6mm was normal for nuchal measurements.
I can totally relate to how you must be feeling right now though. It's a total roller coaster of emotion. You'll know soon, for better or worse, just hang in there.

SaggyAndLucy Sat 18-Jul-15 02:14:36

oh and FWIW, the "worse" should actually read "bloody marvellous"! wink

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