Is Down syndrome seen at 12 week scan before confirmation?

[rufos]

Or do I have to wait until my analysis come back? (Sorry, not sure what this is called - the letter they send you in the post with 1 in 14 chance for example). My 12 weeks scan is due in 2 weeks and I have no idea what to expect

If there is any slight chance/sign of Down syndrome, is this normally picked up and seen by the sonographer?

They can often see thatbthe nuchal fold measurement is out of normal parameters which is often an indication but they won’t give you a 1 in whatever figure until the blood test has been anaylysed in conjunction with that scan measurement.

Other possible markers such as nasal bone, cardiac abnormalities, etc generally wouldn’t be able to be seen at the 12 week scan but are sometimes picked up at the anomaly scan.

The higher the NT measurement (fluid at the back of the baby's neck) the higher the chance of DS. I think anything less than 3.5cm is meant to mean there is less of a chance, but it's called the combined test because they work it out based on the NT result plus the mother's blood sample. Do you know what your NT measurement was? It should be on your notes from that scan 😊

@JacobReesMogadishu that's great help, thank you. I'll try to stop stressing. Do you know how long the blood test results normally take?

@MilsCookie thank you for coming back to me! I'm due to have my scan in 2 weeks so no results yet but I can't help but stress . That's just who I am I guess

From my experience (not in UK), at 12w scan they did a thorough check on markers like heart, blood flow, nasal bone, nuchal translucency etc...
It was all written down in a report. So if one of these is abnormal you would know straight away.
However, the actual risk calculation requires to blood results as well so you will need to wait for the letter.
But then again, this letter is simply calculating a risk with different variables. No definite diagnosis. Only an invasive test would tell you for sure if your baby has a chromosomal abnormality.

Ok so the 12 week scan shows the nuchal fold measurement and from there you can either pay for the blood test or have the amino.

These are the main things I'd like to tell you from experience after going through it with a large nuchal fold. Baby had a cystic hygroma measuring 4.4 suggesting a 1/5 chance of downs instead of the usual 1/150000

You can have the blood test or amino (which comes with risk of losing the baby) but you have to think about why you would want to have that. The only real reason they actually want parents to know is to pressure them to terminate if baby is downs. If you know you would make that choice then finding out makes sense. But if you would want to keep the baby anyway, then why go through it.

So we chose not to find out. We didn't want to know as we knew we wanted to keep the baby anyway. We decided it didn't matter to us and carried on the pregnancy in hope. We were heavily pressured to terminate.

Our perfectly healthy nearly 2 year old is walking around talking. Yes there was a chance she would have problems but there was also a chance she would be fine. We were pressured to terminate a child with no problems at all.
We wanted her Down's syndrome or not, we loved her to pieces but I still can't believe she's here and we were put through all that for there to be nothing.

I am 19 weeks pregnant and based on my experience, the sonographer takes a measurement of the neck (although she was really quiet when taking measurements and so I'd be surprised if a sonographer would say anything). At the same appointment you have a blood test. You get the results within a week of a high risk and up to two weeks later if a low risk (although from experience the results actually come through quicker). The results would be sent in the post and likely a phone call if high risk.

Just to let you know, it is totally your choice whether or not to have the combined test and the midwife taking blood will ask you this.

@ktsc89 we were high risk but we're taken into a side room immediately at the 12 week scan and it was all explained. We were seen by consultant the next day.