Potential chromosomal abnormality at 20 week scan

[Mumtobe2021]

We are first time parents, and our 12 week scan showed no worries. We had the down syndrome test at 12 weeks and it came back as a 1:20000 chance.
We have now been for our 20 week scan last week and were asked to attend another a few days later as the baby showed an echogenic bowel. Following the second scan, the consultant explained to us that the baby indeed has a echogenic bowel, but also has a small cyst on the brain, and baby is 'smaller' than expected. I've had some blood taken to see if the cyst maybe virus related and we were told about the consequences that might come with an echogenic bowel, (but i was also showing an internal bleed). We were offered the Amniocentesis test, which was explained to us to see if the baby has down syndrome, but it sounded as if it came with a risk which we didn't want to take. We are also being referred for 4 weekly growth scans from 28wks.

Just wondering if anyone else has gone through something similar and if you went for a harmony test privately?

Thanks

Sorry to hear this, I'm not sure how much value a harmony test would be at this point unless they've told you the bowel issue is due to suspected downs? I think I'd probably go with the amnio because they can use that to diagnose other chromosonal disorders whereas the harmony is just a screening test so still won't provide you with 'proof' so to speak. Hope you are ok, it must have been a shock for you x

I had echogenic bowel found and very small measurements. This was eight years ago and I didn't know about a harmony test or if it was even an option then. I do remember that if the baby swallows blood that can show as echogenic bowel so that might be connected with the internal bleeding. We didn't get the amniocentesis. God, how I lived in fear for 20 weeks. In the end I was stronger than I have ever been mentally. Drug free labor and as soon as he came out I checked his hands and feet (there's some visual indicators of downs there) and I just couldn't believe he was a perfectly healthy (small) baby. Echogenic bowel can be something and it can be nothing. Stay strong, have hope. I would get the harmony test if you can.

My baby has been measuring small since 20w, particular concern made for his head measurements. I went for nipt privately as was advised amnio at that stage was too risky. Nipt came back low risk for all major genetic conditions. Skip forward to this week (27w) babys hc and ac both still at or below 5th %tile so advised to go for amnio as baby could survive if I went into early labour. Nipt did make me feel better but when I was reminded that it isn't diagnostic just risk based I felt I needed more reassurance. I decided the risk with amnio was worth it, as the results would have influenced if I continued with the pregnancy or not, luckily my baby doesn't have any trisomies which has made feel a lot better! So I'd advise thinking about whether more tests will make you feel more reassured or not and go from there. Best of luck to you and your baby. X

I went for a harmony test last year and it came back 1 in 10,000 so we was obv very happy - at my 12 week scan the NT was 4.8 - It turned out our daughter had mosaic Down syndrome and heart problems which was confirmed with a CVS as they thought it may of been the placenta and then an amino to confirm 100% - I didn’t go through with the pregnancy and she was born at 18 weeks - we called her Violet - I thought after the harmony everything was good but it wasn’t and I was that 1 in 10,000 😢 I wish you all the best xx

@Ruthsoph I feel your pain. We were the 'one in 4000' and one of our twins came back positive after amnio for Edwards syndrome. I no longer have any faith in odds or screening :-( Hope you're ok xx

I had an echogenic bowel picked up at 20 week scan in this pregnancy and when we went back for a repeat scan in a weeks time it had reduced and the. After a further 2 weeks it had gone. A lot of echogenic bowel results come from the baby ingesting old blood abs then they can pass it and the echogenic bowel can then go. Xx