Down syndrome

[DianaXXX]

Hi mums to be, I just need a bit of advise please. I had my dating scan yesterday and it took them at uchl over two hours to do the external and internal scan. initially everything seemed fine, but the baby was too active and wouldn't position in the right way to be examined properly. In the last half an hour of the scan they told me that the nasal bone is absent and it's a possible sign of a down syndrome.
However upon entering all the data on the screen, considering all the tests and my age, the current chances are 1/6552 ( apparently it's a low risk) and that it may still grow but they can't tell me nothing
More until I'm 16 weeks.!
I wonder if there is anything else that I could test prior to the next scan at 16 weeks apart from the dangerous invasive test for the baby. And have any if you been told of chances of having a down syndrome baby?

Just read this, sorry no advice, but hope it's all ok for you. My son and partner had an 'iffy' scan on Monday, so I'm feeling for you.

Thank u

Did you have the nuchal test?

Was the statistical result also based on blood tests?

iirc the lack of nasal bone is a soft marker, but not so meaningful by itself. Your baby may just have a tiny nose right now!

I know it's a worrying time. The best person to ask is your MW. The cvs is a possibility at 12wks (soz my memory of pregnancy is aqll blurred 2 yrs on) and less invasive I think than amnio.
best of luck.

Little update 7 years later

My little boy turned out just okay ))

@Diana what a lovely update. Must’ve been very worrying at the time though!

Have you considered paying privately for the NIPT (harmony, panorama, IONA). It's a non invasive test where they look at the baby's DNA by extracting it from a blood sample taken from you.

It's not diagnostic in the way that an amnio or CVS is but it's about 99.9% effective at detecting Downs.

It's fairly widely available now. Best of luck.

It was the most scary pregnancy ever

However not without its problems as it turns out as the hole in his heart still hasnt closed up and he is suspected to have adhd now but these are nothing in comparison to what could of been !