2 soft markers at 20 week scan - echogenic bowel and short long bones

[Wmoejg]

Hi, I had my 20 week scan yesterday and was feeling optimistic. However at the end of the scan the sonographer told me she would have to refer us on for our baby had a mild echogenic bowel and slightly shorter long bones measurements (humerus and femur). They asked if we have a history of Cystic Fibrosis which we don’t, and sent us on our way with strict instructions not to Google it. Don’t get me wrong, I tried my hardest to resist but I was so concerned and shocked by the results that I couldn’t help but research - this is when I realised these were both soft markers for Downs Syndrome.
My initial screening came back okay ( I think) with a Nuchal Translucency of 1.90mm at my 12 week scan. I will attach images of my outcomes of the scan because I’m petrified, we have been referred to fetal medicine for another scan on a Thursday and I am not sure I’ll sleep right until then. Anyone had similar or can offer their own experience.
As I’m 20 weeks and 24 years old and was considered low risk I’d not had much downs screening, but now starting to think is it too late to find out more? I’m so scared.

I can’t comment on the details of your scan. but highly recommend ARC (Antenatal Results and Choices) which are a brilliant helpline. They were wonderful when I had difficult scan news and talked us through everything explaining what the different elements could mean and the statistics etc, in a very empathetic and clear way:
www.arc-uk.org

Thank you so much for your reply! I will give them a call today - I'm so glad charities like that exist. :)

Really hope they are helpful for you, and that Thursday’s scan is reassuring - I know how stressful the waiting can be.

We had these two results too (short femurs and echogenic bowel). It was a very stressful time, but our son arrived perfectly healthy (albeit small). Hang in there, it doesn't have to mean anything.

Thank you so much for your response and I am so glad you have a healthy baby boy. It's a scary time isn't it - did you have further tests/scans etc to rule out the scary things? Although they had to refer me regardless, the midwife did say that the things that scans can see now is often a cause for unnecessary worry where there wouldn't have been any previously. Again thank you so much for your reply x

Could you afford the NIPT? It will give you a pretty definitive result re Down syndrome 💐

@Wouldloveanother hello! Do they offer this after 20 weeks of pregnancy? I will see what the doctor says at my rescan on Thursday and if it's not offered to me through the NHS I will see if I can book it. Thank you for letting me know :)

yes as far as I’m aware, as it’s just a blood test. Good luck! If it helps, DD’s long bones were also on the shorter side and kept dropping through scans - I think they were on the 40th centile at 20 weeks, 20th by 28 weeks, and 9th by 34 weeks. Nobody ever really said anything because they didn’t go under the 5th but I remember noticing it and feeling a bit concerned especially as her 20 week nuchal was on the very high end of normal (4.6 if I remember rightly). She doesn’t have DS and is a healthy 3 year old. It’s easy to start joining dots and getting scared, but please try not to worry.

@Hottytotty I just spoke to that charity and my goodness they were amazing. She went over all my results and clearly explained what they meant, as well as talking through how to have these discussions with medics and what the next steps will likely be. She was incredible and I am so grateful you recommended them to me. After spending the past 24 hours googling and crying I feel like I may be able to rest a bit. Thank you!

@Wouldloveanother I would always do screening tests and scans etc for piece of mind and to ensure they're okay, but I do think that sometimes they can be really anxiety provoking, particularly when they're measuring with the percentiles which just make you feel like you're doing a terrible job growing them properly. I'm so glad your little girl is a lovely 3 year old now and the numbers meant nothing for who she was going to be ❤️

They’re great - completely guided me through a horrible time (and we also had a healthy baby in the end). I actually raised some money for them afterwards as I felt their service was so important. Best of luck for Thursday.

Sorry, that was replying to your ARC post but hope you realise that!

We had echogenic bowel and all was fine. We had some extra scans and it disappeared after a few weeks; my understanding is that this happens quite often, especially if it’s mild. It was incredibly stressful at the time. Did you have any first trimester bleeding? I believe that can be a cause. Our nuchal scan etc had come back low risk - we were offered amnio but not nipt. We declined amnio but had gene testing for CF and bloods for certain infections.

We had a torch test (checks for infections that can cause harm to the foetus), which came back clear. The results tend to come back within a week. We also were offered an amnio to rule out genetic issues, but before we could take it (it was scheduled a few weeks later), baby arrived (unrelated early labour). Later genetic testing (after birth) showed he was perfectly fine.

Please don't freak out. As the FMU consultant/professor told us: 'These scans are so detailed nowadays that a lot of these things just show up, where we would have had no idea and no worries in the past. Often it is nothing'.

And yes, ARC are freaking amazing. Talk to them and hang in there. It is scary to hear things about baby, but it can all turn out fine. Our baby's femurs in the scans were measuring below 1st centile. He is small (growth restricted, his whole birth weight was below 0.4th centile), but has been doing well after birth.

Also, scans have a certain margin of error in measurements. They can be quite a bit off, both measuring larger or smaller than the actual baby.

@Wmoejg how did you get on ?

@NatGee she's now 5 months old and is perfectly fine with no genetic abnormalities whatsoever. They continued to measure her throughout my pregnancy with growth scans and I was met by a fetal medicine consultant . But she was absolutely perfect. I hope you're okay. If you're just going through this, the ARC charity are unbelievable!

@Wmoejg oh wow that is so good to hear, congratulations on your healthy amazing girl xx thank you so much for responding. Yeah my 20 week scan revealed moderate/grade 2 bowel echogenicity (bright as bone) with everything else being within the normal ranges. Did the bowel clear up eventually for you? I will definitely contact arc, will be good to talk as the wait is torture

@NatGee I remember just how scary it was, the only way I could sleep at night was after I spoke to the ARC charity as they could explain exactly what could be happening and what the next steps were likely to be. Her bowel was echogenic due to a bleed I had (this wasn't an external one I was aware of), she had then ingested some of it from the fluid and this was showing up on the scan. There was no further testing or concerns after she was born, but we were monitored throughout x

@NatGee a fetal medicine doctor will be able to clear up precisely what's going on for you, or at least give you a really really good guess!