21 Week Ultrasound Revealed 3 Soft Down Syndrome Markers

[TheTutor]

Yesterday I went for an ultrasound to find out the gender of my baby. It's a girl! However, they also found 3 soft markers for Down syndrome: 1)thick nuchal fold (I don't remember the exact thickness, but it was 6 something mm) 2)short extremities 3)small nasal bone. I will be 24 when I have the baby, so initially, the risk of Down syndrome was very low. With these markers, the doctor said there's a 95% chance the baby will have DS. We will love this baby no matter what, but it's difficult news to accept right now. I would love to hear if anyone else has been through something similar or just have words of wisdom or advice.

 

[RubyRainbows]

They will probably send you for more advanced level 2 ultrasounds now -- to monitor more closely. My son had a 1:17 chance of having DS because my quad screen came back positive (but there is a high rate of false positives with the test). He didn't have any "markers" though. I opted to not have the amnio to find out for sure due to the slight risk of miscarriage. So I did not know until birth if he had DS or not. He does not. It's an emotional rollercoaster!! Hang in there. It just takes time to process any big news! Maybe look for a local moms group in your area. I know near me there is a group for families of special needs children. I bet they can offer you a great deal of advice and support!

Check out the poem: Welcome to Holland -- It's beautiful!

Congrats on your baby girl!!! Do you have a name picked out?

 

[MoBaby]

We were told we had a 1:18 chance of DS. We did the harmony test and all clear. Our ultrasound didn't see any markers at 18 weeks and Nuchal thickness was normal (vs 12 wk scan it was borderline). I recommend getting the harmony test. In your case since markers were found you may consider an amino. Hopefully all will be fine!

 

[laura_2010]

Hi I had high risk 1 in 126 last year.. normal nulcul fold.. and I had the harmony test which I paid for through the hospital... it came back clear for all they where resting for.... then I had my 20 weeks scan which shown markers on her bowel and small legs and arms and restricted growth... we found out later she had tri 16 which normally the baby does not get past 12 weeks which is very very rare.. but the harmony is a good test as there no risk of mc but they will keep an eye on you and baby... xxxxx

 

[bumble b]

I had 1:155 chance then at 20 week scan he had a soft marker (short long bones) so we were sent for a level 2 ultrasound in london. We went with the amnio. Results showed clear for 3 main trisomy's after 2 days then a few weeks later (xmas eve actually) we got the all clear for the other genetic screening. Have they offered you a level 2 u/s?

 

[TheTutor]

We're going in for an echo in a few weeks, and they drew blood for the harmony test after we saw the ultrasound.

 

[Mrs W 11]

Just wanted to send hugs tutor. I had a 1 in 110 risk of Down's at my combined testing but we refused any invasive testing and our harmony failed due to vanishing twin syndrome. It's a really difficult situation to deal with and I can imagine you must be really shocked. Take all of the support available to you and you and your beautiful girl will be just fine either way xx

 

[TheTutor]

We just got confirmation today that there is an extra 21st chromosome.

 

[MoBaby]

So sorry

 

[Boo44]

We just got confirmation today that there is an extra 21st chromosome.

Thinking of you as you take in the news, be kind to yourself xx

 

[MoBaby]

Just wanted to send hugs tutor. I had a 1 in 110 risk of Down's at my combined testing but we refused any invasive testing and our harmony failed due to vanishing twin syndrome. It's a really difficult situation to deal with and I can imagine you must be really shocked. Take all of the support available to you and you and your beautiful girl will be just fine either way xx

Mrs w just courious how they knew it was from vanished twin syndrome? Did you see a second baby at one point?

 

[Mrs W 11]

Tutor - she will still be your gorgeous little girl and it's good that no serious markers were seen with her heart or major organs. Down syndrome can just involve mild disabilities such as learning difficulties so I hope this will be the case for your daughter. Look after yourselves and take all of the support you can xx

 

[Mrs W 11]

Just wanted to send hugs tutor. I had a 1 in 110 risk of Down's at my combined testing but we refused any invasive testing and our harmony failed due to vanishing twin syndrome. It's a really difficult situation to deal with and I can imagine you must be really shocked. Take all of the support available to you and you and your beautiful girl will be just fine either way xx

Mrs w just courious how they knew it was from vanished twin syndrome? Did you see a second baby at one point?

The lab technician said there was another set of dna that wasn't mine or the babies. I did have 2 embryos put back and I had a big bleed at 4+6 and saw an empty second sac at my 6 week scan so it all seemed to make sense.

 

[MoBaby]

Oh wow! I love how these test are so advanced!

 

[Larkspur]

We just got confirmation today that there is an extra 21st chromosome.

It's a big piece of news to take in.

You might find this blog makes for reassuring reading. It's by a mother who found out at birth that her second daughter has Down Syndrome.

https://kellehampton.com/

 

[twinkletots]

Congratulations on your baby girl.
I have a little girl with Down's syndrome and she is awesome, sure your girl will be too x x