How can I confirm DS on USG at 34 weeks with CPC?

Question

Hi doctor,

I am 34 weeks pregnant and my baby's choroid plexus cysts did not clear. We did the genetic testing in the early stage of pregnancy and it was negative for trisomy 18 and 21. We had four growth ultrasounds, but no one reported anything else wrong with the baby. I am scared that they did not look well enough.

Now we are moving to a different state and the doctor there said that they would have done additional screenings (amniocentesis, talk to a specialist for cysts), but that it is too late now to change anything. She said two cysts (one on each side) are more characteristic of Down syndrome. I have pictures that they gave me from the ultrasounds.

Is there anything specific that I can look for on those ultrasound pictures that would indicate trisomy 18 and 21?

Please suggest.

Answer 1

Hello,

Welcome to icliniq.com.

I was able to see the images and reports. (attachment removed to protect patient identity).

Apart from the cysts they have not reported any frank worrying features. The nasal bone and face profile images are not very clear. In Down's, the nasal bone may be absent or hypoplastic.

The other direct features associated with Down’s are hypertelorism or widely spaced eyes which is not seen in your scans. There is no neck fold thickening. Therefore at this stage of pregnancy, I would ask you not to stress out.

Just make sure that on your next scan the sonographer is aware of the choroid plexus cysts finding and includes cardiac evaluation and facial evaluation in detail.

I hope this has helped you.

Please feel free to reach out to me again if you have further queries.

Thank you.

Answer 2

Hi,

Welcome back to icliniq.com.

With the recent advancements the tests have become quite accurate. So, it might be a rarity that the child would have some genetic disorder. Just that we should be following up the scans to see if the cysts resolve or not. And, only one soft marker is again less likely to be causing a genetic defect. Please take care and keep me posted of the further developments if possible.

I hope this has helped you.

Please feel free to reach out to me again if you have further queries.

Thank you.