Hullo,

Massive hugs to you. This is a very scary time. I've been there - it is not fun. My story has a happy ending...

At 12 weeks my daughter had a thickened nuchal fold. Her nuchal fold measured 7mm. "Normal" is less than 1mm. When combined with my blood test results, our DS risk was 1:20. We were told that there was only a one in ten chance that she would be born at term, healthy, normal and even alive. Until recently, I had never cried as much as when I found out we might have a problem. If we made it to term, she would have some sort of massive complication - no measurement that big ever means nothing, it always (well 9 times out of 10) means something is massively wrong.

We opted for immediate CVS (similar to amnio but the sample is taken from the placenta, not the amniotic fluid) and within 48 hours we had ruled out DS as well as two other major chromosomal abnormalities.

We then had to wait 2 weeks for the full genetic screening, which was all clear. We then had to wait two weeks for a full morphology scan (16 weeks was the earliest the sonographer was willing to try) when we were cleared for any major organ issues. We then had to wait another 4 weeks for a full scan at 20 weeks to double triple check.

And then we were allowed to believe it was ok. She was the one in ten that is fine. Our Obs and our sonographer could not believe it.

It was 8 weeks of hell... every week things got a little better, looked a little brighter, and she is now an extremely bubbly, larger than life almost 3 year old. There is nothing wrong with her at all. She's our little miracle.

They eventually diagnosed a cystic hygroma, which is basically where the head develops out of sync with the rest of the body and takes a bit of time to catch up, but if you scan at the wrong time where head and body are not in proportion, there can be a hygroma present, where a bunch of fluid is pooling at the back of the neck where the spinal cord is trying to catch up to the rest of the growth, or something like that. At every subsequent scan, the measurement went down.

There are lots of other reasons why your baby's measurement might be high. Please take it easy on yourself - stay away from Google, Google is not your friend. Do not overwhelm yourself with questions of what might be - take each day as it comes, each test as it comes and work your way through. Deal with each result as you receive it and then look to the next test.

Can I ask, what happened at your 12 week scan? Did you have a scan at 12 weeks?

It is great that there we no other "soft" markers for DS.

One step at a time. We're here with you all the way.